WormBase Tree Display for Variation: WBVar00089208

WBVar00089208 Evidence: Person_evidence: WBPerson554
  Name: Public_name: mu74
    Other_name (15)
    HGVSg: CHROMOSOME_X:g.2718795_2718869del
  Sequence_details: SMap: S_parent: Sequence: T02C5
    Flanking_sequences: ttgttttatgaagaaattttgaggcttttc tttcagatttcagaaagctgtacagcagta
    Mapping_target: T02C5
    Type_of_mutation: Deletion: aataccgcattaacggccgtgtttacagtggagagtatattgaagattttggcattcggtgttagagtaagttaa Person_evidence: WBPerson554
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CF
    Status: Live
  Affects: Gene: WBGene00006742
    Transcript (15)
  Genetics: Interpolated_map_position: X -13.8049
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000005 Person_evidence: WBPerson554
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson554
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson554
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Person_evidence: WBPerson554
            Curator_confirmed: WBPerson48
      WBPhenotype:0000023 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000556 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004583 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Person_evidence: WBPerson554
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson554
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson554
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Person_evidence: WBPerson554
            Curator_confirmed: WBPerson48
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles e55 Person_evidence: WBPerson261
            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
  Reference: WBPaper00006052
  Remark: mu74 deletes the exon/intron boundary so it is likely that 3' protein synthesis would cease at the next stop codon within the intron. Person_evidence: WBPerson554
  Method: Deletion_allele