WormBase Tree Display for Variation: WBVar00142982

WBVar00142982 Evidence: Paper_evidence: WBPaper00001792
  Name: Public_name: e128
    Other_name: T14B4.7.1:c.205-1G>A
      T14B4.19.1:c.*101-1G>A
    HGVSg: CHROMOSOME_II:g.6711280C>T
  Sequence_details: SMap: S_parent: Sequence: T14B4
    Flanking_sequences: ctattgtataaaatttttttcaactcttca agatcaaacgacgaggctgcacttgaactt
    Mapping_target: T14B4
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00001792
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (660)
    Laboratory: CB
      VC
      BN
    Status: Live
  Affects: Gene: WBGene00001072
      WBGene00302993
    Transcript: T14B4.7.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: T14B4.7.1:c.205-1G>A
        Intron_number: 4/6
      T14B4.19.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: T14B4.19.1:c.*101-1G>A
        Intron_number: 6/6
    Interactor (23)
  Genetics: Interpolated_map_position: II 0.000998201
    Mapping_data: In_2_point (40)
      In_multi_point (151)
      In_pos_neg_data (26)
    Marked_rearrangement: mIn1[dpy-10(e128) let-?(m727)]
      mIn1[dpy-10(e128) mIs14(myo-2::GFP)]
      mIn1[dpy-10(e128)]
      mIn1[rol-1(e91) dpy-10(e128)]
      mIn1[unc-4(e120) dpy-10(e128)]
  Description: Phenotype (20)
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Males are not Ram. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000645 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: non-roller Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001678 Paper_evidence: WBPaper00003994
        Curator_confirmed: WBPerson557
        Remark: There was no change in the hydroxyproline content of cuticle collagen from dpy-10 (e128) animals compared with wild-type cuticle extracts. This is in contrast to the reduction of hydroxyproline content found in dpy-18 (e1096) and dpy-18 (e364) animals. Paper_evidence: WBPaper00003994
            Curator_confirmed: WBPerson557
  Disease_info: Models_disease: DOID:37
    Models_disease_in_annotation: WBDOannot00001178
  Reference (45)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele