WormBase Tree Display for Variation: WBVar00088208

WBVar00088208 Evidence: Paper_evidence: WBPaper00004897
  Name: Public_name: k149
    Other_name: CE20409:p.Arg45Ter
      Y106G6E.5a.1:c.112C>T
      Y106G6E.5b.1:c.133C>T
      CE27228:p.Arg38Ter
    HGVSg: CHROMOSOME_I:g.10226272G>A
  Sequence_details: SMap: S_parent: Sequence: Y106G6E
    Flanking_sequences: attgacaaagaatttacaatatggaatcat gagctgtaattccatcaaatgctcttcaca
    Mapping_target: Y106G6E
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028699
    Laboratory: MJ
    Status: Live
  Affects: Gene: WBGene00000426
    Transcript: Y106G6E.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y106G6E.5a.1:c.112C>T
        HGVSp: CE27228:p.Arg38Ter
        cDNA_position: 112
        CDS_position: 112
        Protein_position: 38
        Exon_number: 2/9
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      Y106G6E.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y106G6E.5b.1:c.133C>T
        HGVSp: CE20409:p.Arg45Ter
        cDNA_position: 149
        CDS_position: 133
        Protein_position: 45
        Exon_number: 3/9
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000517324
      WBInteraction000517325
      WBInteraction000517347
      WBInteraction000517348
  Genetics: Interpolated_map_position: I 4.76162
  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:0000188 Paper_evidence: WBPaper00004897
        Curator_confirmed: WBPerson2021
        Remark: Gonad arms are misshapened 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:0000243 Paper_evidence: WBPaper00031805
        Curator_confirmed: WBPerson2021
        Remark: No enrichment of DYN-1 adjacent to the apoptotic cell in mutant worms deficient for corpse internalization, suggesting that DYN-1 is recruited at a stage following corpse recognition and internalization Paper_evidence: WBPaper00031805
            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
    Phenotype_not_observed: WBPhenotype:0000047 Paper_evidence: WBPaper00040757
        Curator_confirmed: WBPerson712
        Remark: 0/4 gastrulation defect/total embryos Paper_evidence: WBPaper00040757
            Curator_confirmed: WBPerson712
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference: WBPaper00038317
    WBPaper00040757
    WBPaper00031805
    WBPaper00032446
    WBPaper00004897
  Method: Substitution_allele