WormBase Tree Display for Variation: WBVar00143286

WBVar00143286 Evidence: Person_evidence: WBPerson298
  Name: Public_name: e540
    Other_name (16)
    HGVSg: CHROMOSOME_V:g.6912855C>T
  Sequence_details: SMap: S_parent: Sequence: K11C4
    Flanking_sequences: tgagcatctctccttgtagaatgatttttc tgaaaaaaaaaagaaaattgttgttaacat
    Mapping_target: K11C4
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000489
      WBStrain00004179
      WBStrain00008434
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006801
    Transcript (16)
    Interactor: WBInteraction000501717
      WBInteraction000502865
      WBInteraction000504811
      WBInteraction000520126
      WBInteraction000524783
      WBInteraction000556209
      WBInteraction000556212
  Genetics: Interpolated_map_position: V 0.473391
    Mapping_data: In_2_point: 310
        3136
      In_multi_point (11)
      In_pos_neg_data: 847
        1743
        1749
        1775
        3073
        3082
        3432
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weak kinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000561 Paper_evidence: WBPaper00000484
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: head region but not body resistant to 1 mM levamisole Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00000484
              Person_evidence: WBPerson261
              Curator_confirmed: WBPerson2021
                WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005739 PATO:0000460 Paper_evidence: WBPaper00000484
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson2021
                  WBPerson712
        Phenotype_assay: Treatment: 1mM levamisole Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000563 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slight shrinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
          WBPaper00000484
          WBPaper00001474
        Curator_confirmed: WBPerson48
          WBPerson2021
          WBPerson712
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0001599 Paper_evidence: WBPaper00000484
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Head is resistant to ouabain treatment Paper_evidence: WBPaper00000484
            Curator_confirmed: WBPerson2021
          head region but not body resistant to ouabain Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00001924 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005739 PATO:0000460 Paper_evidence: WBPaper00000484
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson2021
                  WBPerson712
        Phenotype_assay: Treatment: 1mM ouabain Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Reference (20)
  Remark: We sequenced e540 for Mueller, et al (eLife, in revision). e540 is a splice acceptor mutation. alt_det = V: 6912855C>T mut_det = G>A in splice acceptor upstream of exon 23 in unc-68 Person_evidence: WBPerson298
      Curator_confirmed: WBPerson51134
    Variation information submitted by WBPerson298 on 2022-10-25_12:05:38 via the Allele submission form. Curator_confirmed: WBPerson51134
  Method: Substitution_allele