WormBase Tree Display for Variation: WBVar00089251

WBVar00089251 Evidence: Paper_evidence: WBPaper00032446
  Name: Public_name: mu342
    Other_name: CE28273:p.Glu223Lys
      ZC504.4b.1:c.667G>A
      ZC504.4a.1:c.667G>A
      ZC504.4c.1:c.667G>A
      CE25672:p.Glu223Lys
      CE25673:p.Glu223Lys
      ZC504.4d.1:c.667G>A
      CE32767:p.Glu223Lys
    HGVSg: CHROMOSOME_X:g.10426568C>T
  Sequence_details: SMap: S_parent: Sequence: ZC504
    Flanking_sequences: ttgttatccaatttaggaatcacggcatta aaatggcggaaggtcatccaccgttgtgcg
    Mapping_target: ZC504
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00032247
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004869
    Laboratory: CF
    Status: Live
  Affects: Gene: WBGene00003247
    Transcript: ZC504.4d.1 (12)
      ZC504.4a.1 (12)
      ZC504.4c.1 (12)
      ZC504.4b.1 (12)
    Interactor: WBInteraction000558203
  Genetics: Interpolated_map_position: X 2.19072
  Description: Phenotype: WBPhenotype:0000134 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Remark: mab-5::LacZ expression in the QL daughters (Table 5) is reduced compared to Wild type. Paper_evidence: WBPaper00006110
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 47% (N=60) Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004056 PATO:0000460 Paper_evidence: WBPaper00006110
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: muIs3 or muIs4 Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
      WBPhenotype:0000296 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Remark: mutants exhibit a low level of crumpled spicules Paper_evidence: WBPaper00006110
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 64% (N=22) Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005312 PATO:0000460 Paper_evidence: WBPaper00006110
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
      WBPhenotype:0000469 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Remark: Isolated in a sceen for viable mutant lines that exhibited migration defects in the QR and/or QR lineage. Paper_evidence: WBPaper00006110
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008598 PATO:0000460 Paper_evidence: WBPaper00006110
                Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Remark: weak Dumpy Paper_evidence: WBPaper00006110
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
      WBPhenotype:0001305 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Remark: mutants exhibit a low level of missing or displaced hooks in the male tail. Paper_evidence: WBPaper00006110
            Curator_confirmed: WBPerson712
        Penetrance: High: 95% (N=22) Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008425 PATO:0000460 Paper_evidence: WBPaper00006110
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
      WBPhenotype:0001509 Paper_evidence: WBPaper00006110
        Curator_confirmed: WBPerson712
        Penetrance: Complete: 100% (N=22) Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00006110
          Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00006110
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00006110
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference: WBPaper00006110
    WBPaper00032446
    WBPaper00032247
  Method: Substitution_allele