WormBase Tree Display for Variation: WBVar00095091

WBVar00095091 Evidence: Paper_evidence: WBPaper00004897
  Name: Public_name: oz167
    Other_name: Y106G6E.5b.1:c.1111C>T
      CE27228:p.Gln364Ter
      Y106G6E.5a.1:c.1090C>T
      CE20409:p.Gln371Ter
    HGVSg: CHROMOSOME_I:g.10224300G>A
  Sequence_details: SMap: S_parent: Sequence: Y106G6E
    Flanking_sequences: tccgaggagatcagagaaatgtggaaatca aaattggggaacaccgatgtggacggttgg
    Mapping_target: Y106G6E
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: BS
    Status: Live
  Affects: Gene: WBGene00000426
    Transcript: Y106G6E.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y106G6E.5a.1:c.1090C>T
        HGVSp: CE27228:p.Gln364Ter
        cDNA_position: 1090
        CDS_position: 1090
        Protein_position: 364
        Exon_number: 4/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      Y106G6E.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y106G6E.5b.1:c.1111C>T
        HGVSp: CE20409:p.Gln371Ter
        cDNA_position: 1127
        CDS_position: 1111
        Protein_position: 371
        Exon_number: 5/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000517334
  Genetics: Interpolated_map_position: I 4.75749
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Partially penetrant embryonic lethality Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00004897
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000188 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Gonad arms are misshapened. Gonad arms often had an uneven diameter, with a distended proximal end and/or small branches or extrusions at bends Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000195 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Migration of the distal tip cells was frequently misdirected Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00004897
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000241 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Both somatic and germ cell corpses persist in ced-12 mutants, leading to an accumulation of dead cell corpses Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00004897
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000699 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00004897
              Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000885 Paper_evidence: WBPaper00004897
          WBPaper00038317
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Mutants are deficient in the removal of apoptotic cell corpses Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
          Persistent cell corpses accumulate. Paper_evidence: WBPaper00038317
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00004897
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00038317
    WBPaper00010999
    WBPaper00010395
    WBPaper00012463
    WBPaper00022326
    WBPaper00004897
  Method: Substitution_allele