WormBase Tree Display for Variation: WBVar00143988

WBVar00143988 Evidence: Paper_evidence: WBPaper00002436
  Name: Public_name: e1413
    Other_name: Y54G11A.10b.1:c.40C>T
      Y54G11A.10a.1:c.40C>T
      CE43616:p.Gln14Ter
      CE43589:p.Gln14Ter
    HGVSg: CHROMOSOME_II:g.14348753G>A
  Sequence_details: SMap: S_parent: Sequence: Y54G11A
    Flanking_sequences: ccggatggtccgaatttggagcgggacgtt agcgtattctagagctcatggagcacgttc
    Mapping_target: Y54G11A
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002436
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004327
      WBStrain00004774
      WBStrain00005495
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00002996
    Transcript: Y54G11A.10b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y54G11A.10b.1:c.40C>T
        HGVSp: CE43616:p.Gln14Ter
        cDNA_position: 364
        CDS_position: 40
        Protein_position: 14
        Exon_number: 3/6
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      Y54G11A.10a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y54G11A.10a.1:c.40C>T
        HGVSp: CE43589:p.Gln14Ter
        cDNA_position: 40
        CDS_position: 40
        Protein_position: 14
        Exon_number: 1/5
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000000344
      WBInteraction000501565
  Genetics: Interpolated_map_position: II 22.9071
    Mapping_data: In_2_point: 493
        4226
        4227
        5206
        5209
        5210
      In_multi_point: 413
        1396
        1675
        1833
        1834
  Description: Phenotype: WBPhenotype:0000698 Paper_evidence: WBPaper00000762
          WBPaper00002375
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: 28 percent of the Vul hermaphrodites have 1 or more ventral protrusions. The penetrance of the Vul phenotype decreases in e1413 hermaphrodites that do not pass through dauer stage but have been starved before reaching adulthood Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
          On average only one VPC adopts a vulval fate. Paper_evidence: WBPaper00002375
            Curator_confirmed: WBPerson712
          Adult hermaphrodite vulvaless (penetrance 98%). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
            98% Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
          Range: 98 98 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000784 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Adult male wildtype. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001987 Paper_evidence: WBPaper00001039
        Curator_confirmed: WBPerson712
        Remark: Animals contained normal levels of AChE activity. Paper_evidence: WBPaper00001039
            Curator_confirmed: WBPerson712
  Reference: WBPaper00001039
    WBPaper00014218
    WBPaper00000762
    WBPaper00002375
    WBPaper00011626
    WBPaper00013667
    WBPaper00015978
    WBPaper00014517
    WBPaper00023121
    WBPaper00013920
  Method: Substitution_allele