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 (14)
  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 (12)
  Reference (16)
  Method: Substitution_allele