WormBase Tree Display for Variation: WBVar00144039

WBVar00144039 Evidence: Person_evidence: WBPerson25803
  Name: Public_name: e1490
    Other_name: D1086.4a.1:c.277-1G>A
    HGVSg: CHROMOSOME_V:g.14091472G>A
  Sequence_details: SMap: S_parent: Sequence: D1086
    Flanking_sequences: aaaacatggaattttactgattattttcca gcaaagctccggaaagctaactccaagtat
    Mapping_target: D1086
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (516)
    Laboratory: CB
      HZ
      OH
      AD
      DR
      SL
      ARK
      CHB
    Status: Live
  Affects: Gene: WBGene00001864
    Transcript: D1086.4a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: D1086.4a.1:c.277-1G>A
        Intron_number: 4/8
    Interactor: WBInteraction000501188
  Genetics: Interpolated_map_position: V 6.09222
    Mapping_data: In_2_point: 6177
      In_multi_point (16)
      In_pos_neg_data (2)
  Description: Phenotype: WBPhenotype:0000044 Paper_evidence: WBPaper00049555
        Curator_confirmed: WBPerson137
      WBPhenotype:0000050 Paper_evidence: WBPaper00000179
        Curator_confirmed: WBPerson712
        Remark: 14.1% eggs never hatch, yet are refractile; wild type animals produce 0.8% inviable zygotes. Paper_evidence: WBPaper00000179
            Curator_confirmed: WBPerson712
      WBPhenotype:0000057 Paper_evidence: WBPaper00049555
        Curator_confirmed: WBPerson137
      WBPhenotype:0000154 Paper_evidence: WBPaper00000179
        Curator_confirmed: WBPerson712
        Remark: Animals segregate a small percentage (0.8%) of short animals shown to be 3X hermaphrodites (wild type segregates 0.04% 3X herm.). Paper_evidence: WBPaper00000179
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000179
                Curator_confirmed: WBPerson712
      WBPhenotype:0000351 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Remark: X-aneuploid progeny fail to hatch (see Hodgkin et. al. 1979). Paper_evidence: WBPaper00003719
            Curator_confirmed: WBPerson48
        Penetrance: Low: Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
          Range: 5 5 Paper_evidence: WBPaper00003719
                Curator_confirmed: WBPerson48
      WBPhenotype:0000863 Paper_evidence: WBPaper00000179
        Curator_confirmed: WBPerson712
        Remark: Males exhibit 55.2% wild type fertility. Paper_evidence: WBPaper00000179
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00000179
                Curator_confirmed: WBPerson712
      WBPhenotype:0001175 Paper_evidence: WBPaper00000179
          WBPaper00048917
          WBPaper00049555
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson721
          WBPerson137
        Remark: Animals segregate 32.9% males compared to 0.3% segregated by wild type animals. Paper_evidence: WBPaper00000179
            Curator_confirmed: WBPerson712
          stronger allele : 33% Him at 20C Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001583 Paper_evidence: WBPaper00000179
        Curator_confirmed: WBPerson712
        Remark: Animals segregate a small percentage (6.7%) of short animals shown to be 3X hermaphrodites (wild type segregates 0.04% 3X herm.). Paper_evidence: WBPaper00000179
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000179
                Curator_confirmed: WBPerson712
    Phenotype_not_observed (10)
  Reference (58)
  Remark: alt_det = g to a mut_det = ag to aa Person_evidence: WBPerson25803
      Curator_confirmed: WBPerson51134
    Variation information submitted by WBPerson25803 on 2023-10-13_08:12:53 via the Allele submission form. Curator_confirmed: WBPerson51134
  Method: Substitution_allele