WormBase Tree Display for Variation: WBVar00089468

WBVar00089468 Evidence: Paper_evidence: WBPaper00001306
  Name: Public_name: n379
    Other_name: R107.8.1:c.2665G>A
      CE00274:p.Glu889Lys
    HGVSg: CHROMOSOME_III:g.9062724C>T
  Sequence_details: SMap: S_parent: Sequence: R107
    Flanking_sequences: ggaatcgattcttttggtattccaatctca aagctcttgtcgcagagccaagaaaatctg
    Mapping_target: R107
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00001306
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00003001
    Transcript: R107.8.1 (12)
    Interactor: WBInteraction000009207
      WBInteraction000052128
      WBInteraction000052176
      WBInteraction000052474
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: III 0.132758
    Mapping_data: In_multi_point: 888
        889
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00001306
        Curator_confirmed: WBPerson48
        Remark: Egg-laying defect is a direct consequence of the trasnformation of the presumptive AC into a VU. Paper_evidence: WBPaper00001306
            Curator_confirmed: WBPerson48
        Penetrance: Incomplete: For heterozygote; penetrance for heterozygote is higher at 20 deg. Paper_evidence: WBPaper00001306
              Curator_confirmed: WBPerson48
          Range: 11 11 Paper_evidence: WBPaper00001306
                Curator_confirmed: WBPerson48
        Semi_dominant: Paper_evidence: WBPaper00001306
          Curator_confirmed: WBPerson48
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001306
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: Visual inspection at 25 degrees. Paper_evidence: WBPaper00001306
              Curator_confirmed: WBPerson48
          Temperature: 25 Paper_evidence: WBPaper00001306
              Curator_confirmed: WBPerson48
          Genotype: n379/+ Paper_evidence: WBPaper00001306
              Curator_confirmed: WBPerson48
      WBPhenotype:0000414 Paper_evidence: WBPaper00001306
        Curator_confirmed: WBPerson48
        Remark: Both Z1.ppp and Z1.aaa adopt a VU fate; in WT one of these cells becomes an anchor cell (adopts the AC fate) and signal from the AC signals the other cell to adopt a VU fate. Paper_evidence: WBPaper00001306
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Paper_evidence: WBPaper00001306
              Curator_confirmed: WBPerson48
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001306
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: Ablation of all other somatic gonadal cells to isolate Z1.ppp or Z4.aaa. Paper_evidence: WBPaper00001306
              Curator_confirmed: WBPerson48
          Genotype: lin-12(n379); him-5(e1467) Paper_evidence: WBPaper00001306
              Curator_confirmed: WBPerson48
      WBPhenotype:0000698 Paper_evidence: WBPaper00028987
          WBPaper00000762
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: semidominant Vul phenotype Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: High: 9 percent penetrance under heterozygous conditions, 97 percent penetrance under homozygous conditions Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
        Semi_dominant: Paper_evidence: WBPaper00000762
          Person_evidence: WBPerson261
          Curator_confirmed: WBPerson2021
            WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
            WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson2021
                  WBPerson712
        Phenotype_assay: Genotype: dpy-17(e164) Paper_evidence: WBPaper00028987
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000700 Paper_evidence: WBPaper00028987
          WBPaper00001576
          WBPaper00032182
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: 25/448 (5.6%) animals are Muv. Paper_evidence: WBPaper00001576
            Curator_confirmed: WBPerson712
          A low percentage of animals exhibited psuedovulvae. Paper_evidence: WBPaper00032182
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00028987
                WBPaper00001576
                WBPaper00032182
              Curator_confirmed: WBPerson2021
                WBPerson712
          Range: 14 14 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001576
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00032182
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: dpy-17(e164) Paper_evidence: WBPaper00028987
              Curator_confirmed: WBPerson2021
            him-5(e1490) Paper_evidence: WBPaper00001576
              Curator_confirmed: WBPerson712
  Reference: WBPaper00016092
    WBPaper00032182
    WBPaper00000762
    WBPaper00014700
    WBPaper00001576
    WBPaper00016174
    WBPaper00001306
    WBPaper00028987
    WBPaper00014999
  Method: Substitution_allele