WormBase Tree Display for Variation: WBVar00090175

WBVar00090175 Evidence: Paper_evidence: WBPaper00006107
  Name: Public_name: n1456
    Other_name (21)
    HGVSg: CHROMOSOME_X:g.11018283C>T
  Sequence_details: SMap: S_parent: Sequence: F58A3
    Flanking_sequences: gaagacgaagaagaagactatagtgtttca aaccggttgctccagatgcggggctcactg
    Mapping_target: F58A3
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028774
      WBStrain00028775
      WBStrain00029366
      WBStrain00029367
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00001184
    Transcript (13)
    Interactor: WBInteraction000500167
      WBInteraction000504727
  Genetics: Interpolated_map_position: X 2.8543
  Description: Phenotype: WBPhenotype:0000054 Paper_evidence: WBPaper00006107
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Lethality is rescued by the expression of EGL-15(5B) but not EGL-15(5A). Paper_evidence: WBPaper00006107
            Curator_confirmed: WBPerson712
          Class II, stronger allele than n484, putative null. :n1454, n1456, n1478 ( all larval lethal, L1 arrest). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Null: Paper_evidence: WBPaper00006107
            Curator_confirmed: WBPerson712
      WBPhenotype:0000059 Paper_evidence: WBPaper00036021
        Curator_confirmed: WBPerson712
        Remark: Rescued by wild-type EGL-15 sequence and EGL-15 sequence with truncated CTD site (SEM-5 binding sites), which corresponds to the mutation in egl-15(n1457). Paper_evidence: WBPaper00036021
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00036021
            Curator_confirmed: WBPerson712
      WBPhenotype:0000081 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000245 Paper_evidence: WBPaper00036021
        Curator_confirmed: WBPerson712
        Remark: Rescued by wild-type EGL-15 sequence but not by EGL-15 sequence with a truncated CTD site (with SEM-5 binding sites), which corresponds to the mutation in egl-15(n1457). Paper_evidence: WBPaper00036021
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00036021
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:0080001
    Models_disease_in_annotation: WBDOannot00000565
      WBDOannot00000604
  Reference: WBPaper00006052
    WBPaper00006107
    WBPaper00018940
    WBPaper00036021
  Method: Substitution_allele