WormBase Tree Display for Variation: WBVar00146337

WBVar00146337 Evidence: Paper_evidence: WBPaper00003653
  Name: Public_name: gm105
    Other_name: C01G6.8c.2:c.1216C>T
      CE39126:p.Gln406Ter
      C01G6.8c.1:c.1216C>T
      CE32563:p.Gln565Ter
      C01G6.8a.1:c.1693C>T
      CE24774:p.Gln539Ter
      C01G6.8b.1:c.1615C>T
    HGVSg: CHROMOSOME_II:g.9297602G>A
  Sequence_details: SMap: S_parent: Sequence: C01G6
    Flanking_sequences: ccaccatatccaatggatcaacatctccaa aagctcgtcgttttccatctcaagagccaa
    Mapping_target: C01G6
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003653
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00040346
    Laboratory: NG
    Status: Live
  Affects: Gene: WBGene00000289
    Transcript: C01G6.8c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C01G6.8c.1:c.1216C>T
        HGVSp: CE39126:p.Gln406Ter
        cDNA_position: 1319
        CDS_position: 1216
        Protein_position: 406
        Exon_number: 5/8
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C01G6.8b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C01G6.8b.1:c.1615C>T
        HGVSp: CE24774:p.Gln539Ter
        cDNA_position: 1647
        CDS_position: 1615
        Protein_position: 539
        Exon_number: 7/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C01G6.8c.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C01G6.8c.2:c.1216C>T
        HGVSp: CE39126:p.Gln406Ter
        cDNA_position: 1221
        CDS_position: 1216
        Protein_position: 406
        Exon_number: 4/7
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C01G6.8a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C01G6.8a.1:c.1693C>T
        HGVSp: CE32563:p.Gln565Ter
        cDNA_position: 1696
        CDS_position: 1693
        Protein_position: 565
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: II 1.10207
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Incomplete: 70 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000230 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Low: 9 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000308 Paper_evidence: WBPaper00003653
        Curator_confirmed: WBPerson712
        Remark: Dauer development is disrupted. Paper_evidence: WBPaper00003653
            Curator_confirmed: WBPerson712
      WBPhenotype:0000406 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
        Penetrance: Low: 6 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0000594 Paper_evidence: WBPaper00003653
        Curator_confirmed: WBPerson712
        Remark: This mutation only has subtle effects on cell migrations. Paper_evidence: WBPaper00003653
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00003653
          WBPaper00002978
        Curator_confirmed: WBPerson712
          WBPerson557
        Remark: Locomotion is disrupted. Paper_evidence: WBPaper00003653
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 87 percent Paper_evidence: WBPaper00002978
              Curator_confirmed: WBPerson557
      WBPhenotype:0001224 Paper_evidence: WBPaper00003653
        Curator_confirmed: WBPerson712
        Remark: CP axon outgrowth is disrupted. Paper_evidence: WBPaper00003653
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000163 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
      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
      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
      WBPhenotype:0000700 Paper_evidence: WBPaper00002978
        Curator_confirmed: WBPerson557
      WBPhenotype:0001585 Paper_evidence: WBPaper00003653
        Curator_confirmed: WBPerson712
        Remark: V1 division is not affected as in gm122 mutants. Paper_evidence: WBPaper00003653
            Curator_confirmed: WBPerson712
  Reference: WBPaper00031110
    WBPaper00003653
    WBPaper00002978
    WBPaper00018944
  Method: Substitution_allele