WormBase Tree Display for Variation: WBVar00142812

WBVar00142812 Evidence: Paper_evidence: WBPaper00024331
  Name: Public_name: de5
    Other_name: C54D1.6.1:c.668+2_668+4delinsAAC
    HGVSg: CHROMOSOME_X:g.7169030_7169032delinsGTT
  Sequence_details: SMap: S_parent: Sequence: C54D1
    Flanking_sequences: ataattccaaatcttattaggcatattggg gaaagttaaatttcagaaaaaaatcattca
    Mapping_target: C54D1
    Type_of_mutation: Substitution: taa aac Paper_evidence: WBPaper00024331
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: EW
    Status: Live
  Affects: Gene: WBGene00000238
    Transcript: C54D1.6.1 VEP_consequence: splice_donor_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C54D1.6.1:c.668+2_668+4delinsAAC
        Intron_number: 7/18
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: X -1.80982
  Description: Phenotype: WBPhenotype:0000006 Person_evidence: WBPerson156
        Curator_confirmed: WBPerson48
        Remark: Egl/Pvl due to defects in vulval precursor cell induction. Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson156
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
      WBPhenotype:0000216 Paper_evidence: WBPaper00024331
        Curator_confirmed: WBPerson2987
        Remark: Table 3 Paper_evidence: WBPaper00024331
            Curator_confirmed: WBPerson2987
        Penetrance: Low: 10 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004409 PATO:0000460 Paper_evidence: WBPaper00024331
                Curator_confirmed: WBPerson2987
          GO_term: GO:0001708 PATO:0000460 Paper_evidence: WBPaper00024331
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
          Genotype: muIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp] Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000414 Person_evidence: WBPerson156
        Curator_confirmed: WBPerson48
        Remark: P12 to P11 cell fate transformation. Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson156
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
      WBPhenotype:0000469 Paper_evidence: WBPaper00024331
        Person_evidence: WBPerson156
        Curator_confirmed: WBPerson48
          WBPerson2987
        Remark: Defects in migration of the QL progeny. Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
          Table 3 Paper_evidence: WBPaper00024331
            Curator_confirmed: WBPerson2987
        Penetrance: High: 94 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
        Recessive: Person_evidence: WBPerson156
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
        EQ_annotations: Anatomy_term: WBbt:0004056 PATO:0000460 Paper_evidence: WBPaper00024331
                Curator_confirmed: WBPerson2987
          GO_term: GO:0097402 PATO:0000460 Paper_evidence: WBPaper00024331
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
          Genotype: muIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp] Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000697 Person_evidence: WBPerson156
        Curator_confirmed: WBPerson48
        Remark: Egl/Pvl due to defects in vulval precursor cell induction. Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson156
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
      WBPhenotype:0000886 Paper_evidence: WBPaper00024331
        Curator_confirmed: WBPerson2987
        Remark: Authors scored for animals on plate that showed Egl (egg laying defective), Pvl (protruding vulva), Bag (bag of worms), or Spew (burst through vulva) phenotypes (Table 3) Paper_evidence: WBPaper00024331
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: 11 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
          Genotype: muIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp] Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001272 Paper_evidence: WBPaper00024331
        Person_evidence: WBPerson156
        Curator_confirmed: WBPerson48
          WBPerson2987
        Remark: Table 3 Paper_evidence: WBPaper00024331
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: 16 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
        Recessive: Person_evidence: WBPerson156
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson156
            Curator_confirmed: WBPerson48
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00024331
                Curator_confirmed: WBPerson2987
          GO_term: GO:0040025 PATO:0000460 Paper_evidence: WBPaper00024331
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
          Genotype: muIs35 [mec-7::GFP]; ccIs9753 [myo-2::GFP, pes-10::gfp, F22B7.9::gfp] Paper_evidence: WBPaper00024331
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00024331
  Remark: de5 is a double mutation Paper_evidence: WBPaper00024331
  Method: Substitution_allele