WormBase Tree Display for Variation: WBVar00089937

WBVar00089937 Evidence: Paper_evidence: WBPaper00024442
  Name: Public_name: n1069
    Other_name: CE27762:p.Gly565Glu
      F55B12.3a.1:c.1700G>A
      F55B12.3b.1:c.1694G>A
      CE25007:p.Gly567Glu
    HGVSg: CHROMOSOME_V:g.13822314G>A
  Sequence_details: SMap: S_parent: Sequence: F55B12
    Flanking_sequences: TTTGTTCTACTTCTACGATGCTAGCGTGTGCAGTCG ATCTCGTAACAACACCGAGGAGACCAAAGTTATCCTTCTCGACTTTGATG
    Mapping_target: F55B12
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00004767
    Transcript: F55B12.3b.1 (12)
      F55B12.3a.1 (12)
    Interactor: WBInteraction000052277
  Genetics: Interpolated_map_position: V 5.62166
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00024442
          WBPaper00001133
        Curator_confirmed: WBPerson48
          WBPerson2021
        Remark: The penetrance of the egg-laying defect in n1069 heterozygotes is cold-sensitive. See Table 7 Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: complete penetrance at 15 or 20 deg C Paper_evidence: WBPaper00024442
              Curator_confirmed: WBPerson48
            As shown in Table 5, 78 percent of heterozygotes are Egl. Under homozygous conditions, 99 percent of hermaphrodites are Egl Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25 Paper_evidence: WBPaper00024442
              Curator_confirmed: WBPerson48
            20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: Mutants show a 57 percent drop in brood size (compared to wild-type) Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000683 Paper_evidence: WBPaper00024442
        Curator_confirmed: WBPerson48
        Remark: Causes significant masculinization of hermaphrodites. Paper_evidence: WBPaper00024442
            Curator_confirmed: WBPerson48
        Semi_dominant: Paper_evidence: WBPaper00024442
          Curator_confirmed: WBPerson48
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00024442
            Curator_confirmed: WBPerson48
      WBPhenotype:0001024 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: At least one of the ventral hypodermal cells P3.p-P8.p, inappropriately divides once in all egl-41 males during the L4 stage. (P3.p-P8.p normally divide only in hermaphrodites to form the vulva) Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 100 100 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001220 Paper_evidence: WBPaper00001133
          WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: Authors comment mutations in egl-41 cause HSNs (which normally undergo apoptosis only in males) to die in hermaphrodites. Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
          HSNs undergo embryonic apoptosis in hermaphrodites Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
            WBPaper00001105
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001133
                  WBPaper00001105
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Cold_sensitive: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001275 Paper_evidence: WBPaper00024442
        Curator_confirmed: WBPerson48
        Remark: Causes increased lin-12 signaling. Paper_evidence: WBPaper00024442
            Curator_confirmed: WBPerson48
      WBPhenotype:0001340 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Remark: See Table 1 Paper_evidence: WBPaper00001133
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Range: 83 83 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001068 Paper_evidence: WBPaper00001133
        Curator_confirmed: WBPerson2021
        Dominant: Paper_evidence: WBPaper00001133
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001133
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 7.5 mg/ml serotonin Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
          Temperature: 24 Paper_evidence: WBPaper00001133
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00016320
    WBPaper00016216
    WBPaper00001105
    WBPaper00001133
    WBPaper00024442
    WBPaper00019447
    WBPaper00010313
    WBPaper00016717
  Method: Substitution_allele