WormBase Tree Display for Variation: WBVar00146336

WBVar00146336 Name: Public_name: gm104
    Other_name: Y50D4C.1c.1:c.71G>A
      Y50D4C.1b.1:c.29G>A
      CE43197:p.Trp24Ter
      CE33232:p.Trp10Ter
      Y50D4C.1a.1:c.71G>A
      CE50871:p.Trp24Ter
      Y50D4C.1d.1:c.41G>A
      CE50774:p.Trp14Ter
    HGVSg: CHROMOSOME_V:g.985161G>A
  Sequence_details: SMap: S_parent: Sequence: Y50D4C
    Flanking_sequences: tgatgacctacaacgaatcgacaaaaggat ggtactactcggcggaaatgatgattcaat
    Mapping_target: Y50D4C
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00036239
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00047814
      WBStrain00051845
    Laboratory: NG
    Status: Live
  Affects: Gene: WBGene00006770
    Transcript: Y50D4C.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50D4C.1d.1:c.41G>A
        HGVSp: CE50774:p.Trp14Ter
        cDNA_position: 41
        CDS_position: 41
        Protein_position: 14
        Exon_number: 1/6
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      Y50D4C.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50D4C.1a.1:c.71G>A
        HGVSp: CE43197:p.Trp24Ter
        cDNA_position: 71
        CDS_position: 71
        Protein_position: 24
        Exon_number: 2/8
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      Y50D4C.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50D4C.1b.1:c.29G>A
        HGVSp: CE33232:p.Trp10Ter
        cDNA_position: 29
        CDS_position: 29
        Protein_position: 10
        Exon_number: 1/3
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      Y50D4C.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50D4C.1c.1:c.71G>A
        HGVSp: CE50871:p.Trp24Ter
        cDNA_position: 71
        CDS_position: 71
        Protein_position: 24
        Exon_number: 2/4
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000521267
      WBInteraction000521268
  Genetics: Interpolated_map_position: V -19.8831
  Description: Phenotype: WBPhenotype:0000230 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Low: 4 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000406 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Low: 1 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000633 Paper_evidence: WBPaper00045955
        Curator_confirmed: WBPerson557
        Remark: Branch defects scored in PLM neuron. Paper_evidence: WBPaper00045955
            Curator_confirmed: WBPerson557
        Penetrance: Incomplete: Paper_evidence: WBPaper00045955
              Curator_confirmed: WBPerson557
      WBPhenotype:0000643 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Complete: 100 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000882 Paper_evidence: WBPaper00056964
        Curator_confirmed: WBPerson48777
        Remark: Primary dendrite outgrowth reduced. Fig S2A (Not cell autonomous) Paper_evidence: WBPaper00056964
            Curator_confirmed: WBPerson48777
          3° dendrites that fail to self-avoid and overgrow one another. Fig 3C. (Cell autonomous) Paper_evidence: WBPaper00056964
            Curator_confirmed: WBPerson48777
        Penetrance: Incomplete: Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
        EQ_annotations: Anatomy_term: WBbt:0006831 PATO:0000460 Paper_evidence: WBPaper00056964
                Curator_confirmed: WBPerson48777
        Phenotype_assay: Strain: WBStrain00047814 Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
          Control_strain: WBStrain00047813 Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
          Genotype: wdIs52 (pF49H12.4::GFP) Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
        Remark: unc-34 mutants had perturbations in AC invasion Paper_evidence: WBPaper00032446
            Curator_confirmed: WBPerson2021
      WBPhenotype:0002259 Paper_evidence: WBPaper00056964
        Curator_confirmed: WBPerson48777
        Remark: Reduced number of secondary dendrites. Fig S2B. (Not cell-autonomous) Paper_evidence: WBPaper00056964
            Curator_confirmed: WBPerson48777
        Penetrance: Incomplete: Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
        EQ_annotations: Anatomy_term: WBbt:0006831 PATO:0000460 Paper_evidence: WBPaper00056964
                Curator_confirmed: WBPerson48777
        Phenotype_assay: Strain: WBStrain00047814 Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
          Control_strain: WBStrain00047813 Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
          Genotype: wdIs52 (pF49H12.4::GFP) Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
    Phenotype_not_observed: WBPhenotype:0000006 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
      WBPhenotype:0000163 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
      WBPhenotype:0000700 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
  Reference: WBPaper00032446
    WBPaper00002978
    WBPaper00036239
    WBPaper00045955
    WBPaper00056964
  Method: Substitution_allele