WormBase Tree Display for Variation: WBVar00144303

WBVar00144303 Evidence: Paper_evidence: WBPaper00027140
  Name: Public_name: e1787
    Other_name: Y34D9B.1b.1:c.841C>T
      Y34D9B.1a.1:c.829C>T
      CE24204:p.Gln281Ter
      CE24203:p.Gln277Ter
    HGVSg: CHROMOSOME_I:g.949947G>A
  Sequence_details: SMap: S_parent: Sequence: Y34D9B
    Flanking_sequences: ttgagccattcaaaaagaattttgaagttc aaatctcgtgcaccgactacacccatcacc
    Mapping_target: Y34D9B
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00027140
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004471
      WBStrain00008499
      WBStrain00008500
      WBStrain00008502
      WBStrain00008506
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003238
    Transcript: Y34D9B.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y34D9B.1a.1:c.829C>T
        HGVSp: CE24203:p.Gln277Ter
        cDNA_position: 883
        CDS_position: 829
        Protein_position: 277
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      Y34D9B.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y34D9B.1b.1:c.841C>T
        HGVSp: CE24204:p.Gln281Ter
        cDNA_position: 978
        CDS_position: 841
        Protein_position: 281
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000000780
      WBInteraction000500064
      WBInteraction000500065
      WBInteraction000500486
      WBInteraction000500490
      WBInteraction000500491
      WBInteraction000524025
      WBInteraction000524200
      WBInteraction000524382
      WBInteraction000538637
      WBInteraction000538646
      WBInteraction000538651
      WBInteraction000538655
      WBInteraction000538662
  Genetics: Interpolated_map_position: I -17.492
    Mapping_data: In_multi_point: 1241
        3434
        3435
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 20 20 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000070 Paper_evidence: WBPaper00002582
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit defects in the formation of the hook and in the organization of the spicules. Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00002582
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00002582
                Curator_confirmed: WBPerson712
      WBPhenotype:0000120 Paper_evidence: WBPaper00002582
        Curator_confirmed: WBPerson712
        Remark: QL daughters showed decrease MAB-5 antibody staining. Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 95% Paper_evidence: WBPaper00002582
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
      WBPhenotype:0000199 Paper_evidence: WBPaper00002582
        Curator_confirmed: WBPerson712
        Remark: Male tails have few rays, rays that are present have abnormal morphology; unlike mab-5 mutants, these rays are not replaced with alae (data not shown). Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00002582
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00002582
                Curator_confirmed: WBPerson712
      WBPhenotype:0000296 Paper_evidence: WBPaper00002582
        Curator_confirmed: WBPerson712
        Remark: Spicules were often crumpled. Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00002582
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00002582
                Curator_confirmed: WBPerson712
      WBPhenotype:0000393 Paper_evidence: WBPaper00065184
        Curator_confirmed: WBPerson41726
      WBPhenotype:0000425 Paper_evidence: WBPaper00003383
        Curator_confirmed: WBPerson2987
        Remark: mig-1(e1787) results in a loss of mab-5 expression in 72% of QL neuroblasts, as determined by anti-MAB-5 antibody staining (Table 1). Paper_evidence: WBPaper00003383
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004056 PATO:0000460 Paper_evidence: WBPaper00003383
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00003383
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000469 Paper_evidence: WBPaper00002582
          WBPaper00003383
          WBPaper00024898
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: Although the migration of QL is posterior, QL descendants reverse direction during migration and migrate anteriorly. The final position of QL.pa daughters were displaced anteriorly compared to controls. Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
          abnormal migration of Q neuroblasts (both QL and QR migrate anteriorly) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          mig-1(e1787) results in only 15% of descendants of the QL neuroblast in the posterior of the animal, where the cell migrates in wild type (Table 1). Paper_evidence: WBPaper00003383
            Curator_confirmed: WBPerson2987
          Table 1 Paper_evidence: WBPaper00024898
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: 58 Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
          High: 95% Paper_evidence: WBPaper00002582
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004056 PATO:0000460 Paper_evidence: WBPaper00003383
                Curator_confirmed: WBPerson2987
            WBbt:0004993 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
            WBbt:0004086 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00003383
                  WBPaper00024898
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: From Table 1 legend: "Because QL descendants sometimes were misplaced anteriorly and at other times were misplaced posteriorly, we present the data for both phenotypes. A QL cell descendant was scored as misplaced anteriorly if its nucleus was anterior to V4.p and misplaced posteriorly if its nucleus was posterior to V5.p. Because they occupy positions near each other, the data for SDQL and PVM were combined." Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000470 Paper_evidence: WBPaper00001105
          WBPaper00024898
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
          WBPerson2987
        Remark: HSNs fail to arrive at their final destination (between P5/6 and V4) Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
          HSN migration abnormal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          "Mutations in mig-1 and lin-17 disrupt HSN cell migration, although the effects of lin-17 mutations are weak (Figure 4; Desai et al. 1988; Hedgecock et al. 1987; Harris et al. 1996)." (Table 1) Paper_evidence: WBPaper00024898
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: 63 Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                  WBPaper00024898
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson2021
                  WBPerson712
                  WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00001105
                  WBPaper00024898
                Curator_confirmed: WBPerson2021
                  WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: From Table 1 legend: "Because the HSNs were sometimes misplaced anteriorly and at other times were misplaced posteriorly, we present the data for both phenotypes. An HSN was scored as misplaced anteriorly if its nucleus was anterior to the P5/6 nucleus and as misplaced posteriorly if its nucleus was posterior to the V4 nucleus." Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000594 Paper_evidence: WBPaper00065184
        Curator_confirmed: WBPerson41726
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000882 Paper_evidence: WBPaper00040245
        Curator_confirmed: WBPerson10153
        Remark: migration defects and dendrite development defects in the PQR neuron Paper_evidence: WBPaper00040245
            Curator_confirmed: WBPerson10153
        EQ_annotations: Anatomy_term: WBbt:0004096 PATO:0000460 Paper_evidence: WBPaper00040245
                Curator_confirmed: WBPerson10153
      WBPhenotype:0001278 Paper_evidence: WBPaper00024898
        Curator_confirmed: WBPerson2987
        Remark: mig-1(e1787) mutants exhibit a nearly complete loss of expression of the mab-5::GFP transgene in QL descendants (Table 2) Paper_evidence: WBPaper00024898
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004993 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
            WBbt:0004086 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: muIs16 [mab-5::GFP] Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001798 Paper_evidence: WBPaper00044349
        Curator_confirmed: WBPerson3718
        Penetrance: Complete: Paper_evidence: WBPaper00044349
              Curator_confirmed: WBPerson3718
        Recessive: Paper_evidence: WBPaper00044349
          Curator_confirmed: WBPerson3718
        Variation_effect: Null: Paper_evidence: WBPaper00044349
            Curator_confirmed: WBPerson3718
      WBPhenotype:0001911 Paper_evidence: WBPaper00061837
        Curator_confirmed: WBPerson1068
    Phenotype_not_observed: WBPhenotype:0000070 Paper_evidence: WBPaper00002582
        Curator_confirmed: WBPerson712
        Remark: No defects were reported in the morphology of the male tail hook and rays 1-6. Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00002582
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00002582
                Curator_confirmed: WBPerson712
      WBPhenotype:0000104 Paper_evidence: WBPaper00044679
        Curator_confirmed: WBPerson2987
        Remark: The mig-1(e1787) mutation does not affect anteroposterior polarity in the AVG interneuron Paper_evidence: WBPaper00044679
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0003850 PATO:0000460 Paper_evidence: WBPaper00044679
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000232 Paper_evidence: WBPaper00024898
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00024898
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006827 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: From Table 1 legend: "A CAN was scored as defective if its nucleus was anterior to the V3 nucleus." Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000384 Paper_evidence: WBPaper00035405
        Curator_confirmed: WBPerson2021
        Remark: No axon guidance defects in SIA/SIB/SMD neurons Paper_evidence: WBPaper00035405
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000469 Paper_evidence: WBPaper00024898
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00024898
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004991 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
            WBbt:0003832 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: From Table 1 legend: "Because they occupy positions near each other, the data for SDQR and AVM were combined and are presented in the QR column. SDQR and AVM were scored as defective if their nuclei were posterior to the V2.a nucleus. The position of AQR, a third QR descendant, was not included because it migrates to a location near other nuclei with similar morphology." Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000471 Paper_evidence: WBPaper00024898
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00024898
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: From the Table 1 legend: "An ALM was scored as defective if its nucleus was anterior to the V2 nucleus." Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000594 Paper_evidence: WBPaper00024898
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00024898
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006826 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00024898
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: From Table 1 legend: "Because BDUs sometimes were misplaced anteriorly and at other times were misplaced posteriorly, we present the data for both phenotypes. A BDU was scored as misplaced anteriorly if its nucleus was anterior to its normal position immediately anterior to V1 and misplaced posteriorly if its nucleus was posterior to the V1 nucleus." Paper_evidence: WBPaper00024898
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000852 Paper_evidence: WBPaper00002582
        Curator_confirmed: WBPerson712
        Remark: Coelomocytes were produced. Paper_evidence: WBPaper00002582
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00002582
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002582
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00002582
                Curator_confirmed: WBPerson712
      WBPhenotype:0000883 Paper_evidence: WBPaper00035405
        Curator_confirmed: WBPerson2021
        Remark: Nerve ring development is normal Paper_evidence: WBPaper00035405
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001224 Paper_evidence: WBPaper00060654
        Curator_confirmed: WBPerson712
        Remark: There are six Wnt receptors encoded in the C. elegans genome: four Frizzled receptors (LIN-17, CFZ-2, MIG-1 and MOM-5,), one Ror receptor (CAM-1) and one Ryk receptor (LIN-18) (Sawa and Korswagen, 2013). We analyzed the effect of loss-of-function mutations for each receptor and found that loss of cam-1, but not the other receptors, caused defective SMDD axonal development (Figure 1D). Paper_evidence: WBPaper00060654
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004972 PATO:0000460 Paper_evidence: WBPaper00060654
                Curator_confirmed: WBPerson712
            WBbt:0004971 PATO:0000460 Paper_evidence: WBPaper00060654
                Curator_confirmed: WBPerson712
      WBPhenotype:0001235 Paper_evidence: WBPaper00004436
        Curator_confirmed: WBPerson2987
        Remark: Animals exhibited wild type V5 cell division polarity (Table 2) Paper_evidence: WBPaper00004436
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004890 PATO:0000460 Paper_evidence: WBPaper00004436
                Curator_confirmed: WBPerson2987
            WBbt:0004876 PATO:0000460 Paper_evidence: WBPaper00004436
                Curator_confirmed: WBPerson2987
            WBbt:0004250 PATO:0000460 Paper_evidence: WBPaper00004436
                Curator_confirmed: WBPerson2987
            WBbt:0007446 PATO:0000460 Paper_evidence: WBPaper00004436
                Curator_confirmed: WBPerson2987
            WBbt:0004246 PATO:0000460 Paper_evidence: WBPaper00004436
                Curator_confirmed: WBPerson2987
            WBbt:0007463 PATO:0000460 Paper_evidence: WBPaper00004436
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00004436
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 25 Paper_evidence: WBPaper00004436
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference: WBPaper00040245
    WBPaper00024898
    WBPaper00003383
    WBPaper00004436
    WBPaper00032446
    WBPaper00035405
    WBPaper00001105
    WBPaper00002582
    WBPaper00014212
    WBPaper00018943
    WBPaper00022891
    WBPaper00044349
    WBPaper00044679
    WBPaper00060654
    WBPaper00061837
    WBPaper00065184
  Method: Substitution_allele