WormBase Tree Display for Variation: WBVar00089926

WBVar00089926 Evidence: Paper_evidence: WBPaper00004442
  Name: Public_name: n1053
    Other_name: CE12098:p.Trp57Ter
      K10G6.1.1:c.170G>A
    HGVSg: CHROMOSOME_II:g.3983457G>A
  Sequence_details: SMap: S_parent: Sequence: K10G6
    Flanking_sequences: aaatcagctcaaaatgtaatgttttcaggt gcaaaactccctgcgacacaacttgtcatt
    Mapping_target: K10G6
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026935
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00003017
    Transcript: K10G6.1.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: K10G6.1.1:c.170G>A
        HGVSp: CE12098:p.Trp57Ter
        cDNA_position: 275
        CDS_position: 170
        Protein_position: 57
        Exon_number: 3/6
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000502310
      WBInteraction000502390
      WBInteraction000520759
      WBInteraction000521357
      WBInteraction000521360
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: II -5.88222
  Description: Phenotype: WBPhenotype:0000218 Paper_evidence: WBPaper00026707
        Curator_confirmed: WBPerson712
        Remark: 4.3 (n=31) Paper_evidence: WBPaper00026707
            Curator_confirmed: WBPerson712
      WBPhenotype:0000220 Paper_evidence: WBPaper00003200
        Curator_confirmed: WBPerson2987
        Remark: Vulval precursor cells are defective in the specification of the primary, secondary and tertiary cell fates during the L3 stage (Table 1). Paper_evidence: WBPaper00003200
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0007809 PATO:0000460 Paper_evidence: WBPaper00003200
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00003200
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000640 Paper_evidence: WBPaper00026707
        Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 30% (n=230) Paper_evidence: WBPaper00026707
              Curator_confirmed: WBPerson712
      WBPhenotype:0000700 Paper_evidence: WBPaper00000762
          WBPaper00026707
          WBPaper00003200
        Curator_confirmed: WBPerson2021
          WBPerson712
          WBPerson2987
        Remark: Vulva is non-functional in some lin-31 hermaphrodites, which results in a bag of worms phenotype. Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
          Table 1 Paper_evidence: WBPaper00003200
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: 76% (n=329) Paper_evidence: WBPaper00026707
              Curator_confirmed: WBPerson712
          High: 88% penetrance Paper_evidence: WBPaper00003200
              Curator_confirmed: WBPerson2987
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00003200
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
            WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00003200
                Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00027035
        Curator_confirmed: WBPerson2987
        Remark: "We introduced deIs1 and deIs4 into a lin-31(n1053) null mutant background and analyzed GFP expression. Surprisingly, we found that GFP expression increased in P6.p from both reporters after vulval induction in lin-31(n1053) animals (Fig. 9C and data not shown)." Paper_evidence: WBPaper00027035
            Curator_confirmed: WBPerson2987
        Variation_effect: Null: Paper_evidence: WBPaper00027035
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: lin-39::GFP Paper_evidence: WBPaper00027035
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000363 Paper_evidence: WBPaper00026707
        Curator_confirmed: WBPerson712
        Remark: lin-31(lf) does not cause a delay in vulval cell division. Paper_evidence: WBPaper00026707
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00026707
                Curator_confirmed: WBPerson712
  Reference: WBPaper00003200
    WBPaper00027035
    WBPaper00026707
    WBPaper00000762
    WBPaper00014517
  Method: Substitution_allele