WormBase Tree Display for Variation: WBVar00090575

WBVar00090575 Evidence: Paper_evidence: WBPaper00005540
  Name: Public_name: n2820
    Other_name: D2096.4b.1:c.866C>T
      D2096.4a.1:c.1031C>T
      CE49667:p.Thr289Met
      CE04302:p.Thr344Met
    HGVSg: CHROMOSOME_IV:g.8362632C>T
  Sequence_details: SMap: S_parent: Sequence: D2096
    Flanking_sequences: cattgtagatctacgggaacggaactcaaa gcgatcattccaatatgtgacagatcttgt
    Mapping_target: D2096
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00005540
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00005019
    Transcript: D2096.4b.1 (12)
      D2096.4a.1 (12)
  Genetics: Interpolated_map_position: IV 3.7142
    Mapping_data: In_multi_point: 3133
        3134
        3135
  Description: Phenotype: WBPhenotype:0000040 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Remark: Some eggs fail to undergo cytokinesis Paper_evidence: WBPaper00003405
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000059 Paper_evidence: WBPaper00031153
        Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00031153
                Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00031153
            Curator_confirmed: WBPerson712
      WBPhenotype:0000367 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000406 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Remark: Hatched larvae are lumpy and poorly elongated Paper_evidence: WBPaper00003405
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000510 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: morphology of L4 vulva abnormal (invagination considerably reduced) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000707 Paper_evidence: WBPaper00031153
        Curator_confirmed: WBPerson712
        Remark: Homozygous animals (5/14) from maternally depleted sqv-1 hermaphrodites exhibited short, thick isthmuses. Homozygous animals from heterozygous hermaphrodites do not exhibit pharyngeal development defects. Paper_evidence: WBPaper00031153
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031153
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003734 PATO:0000460 Paper_evidence: WBPaper00031153
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00031153
                Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00031153
            Curator_confirmed: WBPerson712
      WBPhenotype:0001360 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: hermaphrodites almost self-sterile Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0006001 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00003405
    WBPaper00031153
  Method: Substitution_allele