WormBase Tree Display for Variation: WBVar00000575

WBVar00000575 Evidence: Paper_evidence: WBPaper00027716
    Person_evidence: WBPerson178
  Name: Public_name: bx37
    Other_name: C12C8.3a.2:c.100G>A
      CE27062:p.Gly34Arg
      CE27063:p.Gly34Arg
      C12C8.3a.1:c.100G>A
      C12C8.3b.2:c.100G>A
      C12C8.3b.1:c.100G>A
    HGVSg: CHROMOSOME_I:g.9341798C>T
  Sequence_details: SMap: S_parent: Sequence: C12C8
    Flanking_sequences: tgctgcttccgcccatcgacagctcgtttc gctgtcgttggcgtccacgtcgatctcagt
    Mapping_target: C12C8
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007159
    Laboratory: EM
    Status: Live
  Affects: Gene: WBGene00003026
    Transcript: C12C8.3b.1 (12)
      C12C8.3a.1 (12)
      C12C8.3b.2 (12)
      C12C8.3a.2 (12)
    Interactor: WBInteraction000503677
      WBInteraction000541130
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I 3.75274
    Mapping_data: In_multi_point: 3194
        3197
        3199
  Description: Phenotype: WBPhenotype:0000306 Paper_evidence: WBPaper00031953
        Curator_confirmed: WBPerson712
        Remark: dmd-3::YFP expression was frequently absent from hyp10 in 33% mid-L4 males (n=35). Paper_evidence: WBPaper00031953
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031953
              Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031953
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004378 PATO:0000460 Paper_evidence: WBPaper00031953
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000073 PATO:0000460 Paper_evidence: WBPaper00031953
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: fsEx154[DMD-3::YFP,cc::GFP] Paper_evidence: WBPaper00031953
              Curator_confirmed: WBPerson712
      WBPhenotype:0001431 Paper_evidence: WBPaper00027716
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Male tail tip is pointy and protrudes beyond the posterior edge of the fan, 100% penetrant. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00027716
              Curator_confirmed: WBPerson48
          Complete: 100% Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
          Range: 95 95 Paper_evidence: WBPaper00027716
                Curator_confirmed: WBPerson48
        Semi_dominant: Paper_evidence: WBPaper00027716
          Person_evidence: WBPerson261
          Curator_confirmed: WBPerson48
            WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00027716
            Curator_confirmed: WBPerson48
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00027716
              Curator_confirmed: WBPerson48
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00027716
              Curator_confirmed: WBPerson48
          Genotype: bx37; him-5(e1490) Paper_evidence: WBPaper00027716
              Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0000638 Paper_evidence: WBPaper00027716
        Curator_confirmed: WBPerson48
      WBPhenotype:0000648 Paper_evidence: WBPaper00027716
        Curator_confirmed: WBPerson48
      WBPhenotype:0000695 Paper_evidence: WBPaper00027716
        Curator_confirmed: WBPerson48
      WBPhenotype:0001025 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: No hermaphrodite phenotype. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001412 Paper_evidence: WBPaper00027716
        Curator_confirmed: WBPerson48
  Reference: WBPaper00027716
    WBPaper00031953
    WBPaper00020761
    WBPaper00014318
    WBPaper00019588
    WBPaper00015631
    WBPaper00010152
    WBPaper00026492
    WBPaper00023811
  Remark: Variation flanks and nucleotide change automatically updated to be on the positive strand to fix mapping and gff dumping issues.
    [200224 mh6] reverse complemented/swapped the change and flanks to move the variation onto the plus strand Curator_confirmed: WBPerson4055
    Variation information submitted by on 2021-09-21_13:16:36 via the Allele submission form. Submitted data G/A refers to the negative strand sequence Paper_evidence: WBPaper00027716
      Person_evidence: WBPerson178
      Curator_confirmed: WBPerson51134
    Verified also by Julia Burnett (Hubbard lab), 9/21/2021. Person_evidence: WBPerson178
  Method: Substitution_allele