WormBase Tree Display for Variation: WBVar00143343

WBVar00143343 Name: Public_name: e620
    Other_name: C16B8.1.1:c.313C>T
      CE44782:p.Gln105Ter
    HGVSg: CHROMOSOME_X:g.3959108C>T
  Sequence_details: SMap: S_parent: Sequence: C16B8
    Flanking_sequences: ccattgaaaggaacggtgccagaatctttg agggtattcatttcgcgaaacatttttcaa
    Mapping_target: C16B8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00024383
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004187
      WBStrain00008502
      WBStrain00008506
      WBStrain00026854
      WBStrain00026896
      WBStrain00027230
      WBStrain00030926
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003007
    Transcript: C16B8.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C16B8.1.1:c.313C>T
        HGVSp: CE44782:p.Gln105Ter
        cDNA_position: 321
        CDS_position: 313
        Protein_position: 105
        Exon_number: 4/14
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor (43)
  Genetics: Interpolated_map_position: X -8.86883
    Mapping_data: In_multi_point (15)
      In_pos_neg_data: 5833
  Description: Phenotype (11)
    Phenotype_not_observed: WBPhenotype:0000104 Paper_evidence: WBPaper00044679
        Curator_confirmed: WBPerson2987
        Remark: The lin-18(e620) 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:0000218 Paper_evidence: WBPaper00031110
        Curator_confirmed: WBPerson712
        Remark: No significant number of overinduced animals (worms with greater than three VPCs induced) were detected. Paper_evidence: WBPaper00031110
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031110
            Curator_confirmed: WBPerson712
      WBPhenotype:0000219 Paper_evidence: WBPaper00031110
        Curator_confirmed: WBPerson712
        Remark: No underinduced animals (worms with fewer than 22 vulval cells or fewer than three VPCs induced) were detected. Paper_evidence: WBPaper00031110
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031110
            Curator_confirmed: WBPerson712
      WBPhenotype:0000648 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000883 Paper_evidence: WBPaper00035405
        Curator_confirmed: WBPerson2021
        Remark: Nerve ring development is normal Paper_evidence: WBPaper00035405
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001024 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Males phenotypically wildtype. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      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:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference (15)
  Method: Substitution_allele