WormBase Tree Display for Variation: WBVar00143070

WBVar00143070 Evidence: Paper_evidence: WBPaper00004453
  Name: Public_name: e261
    Other_name: W09C5.2.1:c.85G>A
      CE20165:p.Gly29Arg
    HGVSg: CHROMOSOME_I:g.13629317G>A
  Sequence_details: SMap: S_parent: Sequence: W09C5
    Flanking_sequences: gggcagcacaaagaaaatccgaattactgg gattcgccaacttcccgaatcaagtcttcc
    Mapping_target: W09C5
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004137
      WBStrain00005472
      WBStrain00008449
      WBStrain00023968
      WBStrain00027078
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006793
    Transcript: W09C5.2.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: W09C5.2.1:c.85G>A
        HGVSp: CE20165:p.Gly29Arg
        cDNA_position: 91
        CDS_position: 85
        Protein_position: 29
        Exon_number: 2/7
        Codon_change: Gga/Aga
        Amino_acid_change: G/R
    Interactor: WBInteraction000501463
  Genetics: Interpolated_map_position: I 21.6133
    Mapping_data: In_2_point: 24
      In_multi_point: 44
        249
        1227
        1449
        1696
        1697
        1703
        2769
    Marked_rearrangement: hT2[dpy-18(h662) unc-59(e261)]
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: all phenotypes similar to or slightly stronger than those of unc-85(e1414) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000070 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: males have very abnormal tail anatomy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: thin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000604 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: variable defects in neuroanatomy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000695 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: vulva variably abnormal, often protrusive, sometimes ruptured Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000746 Paper_evidence: WBPaper00057125
        Curator_confirmed: WBPerson7492
        Remark: delayed abscission Paper_evidence: WBPaper00057125
            Curator_confirmed: WBPerson7492
        EQ_annotations: GO_term: GO:0061952 PATO:0000502 Paper_evidence: WBPaper00057125
                Curator_confirmed: WBPerson7492
      WBPhenotype:0000825 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: many postembryonic lineage abnormalities resulting from variable failures in cytokinesis; gonad lineages sometimes defective Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          all phenotypes similar to or slightly stronger than those of unc-85(e1414) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000885 Paper_evidence: WBPaper00050047
        Curator_confirmed: WBPerson7492
        Remark: phagocytosis of midbodies delayed Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
        Phenotype_assay: Genotype: unc-59(RNAi) Paper_evidence: WBPaper00050047
              Curator_confirmed: WBPerson7492
      WBPhenotype:0001005 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor backward movement, forward better; thin; vulva variably abnormal, often protrusive, sometimes ruptured; many postembryonic lineage abnormalities resulting from variable failures in cytokinesis; gonad lineages sometimes defective; variable defects in neuroanatomy; males have very abnormal tail anatomy. ES2 ME0 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          all phenotypes similar to or slightly stronger than those of unc-85(e1414) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001018 Paper_evidence: WBPaper00050047
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson7492
        Remark: all phenotypes similar to or slightly stronger than those of unc-85(e1414) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          abscission delayed Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
        Phenotype_assay: Genotype: unc-59(RNAi) Paper_evidence: WBPaper00050047
              Curator_confirmed: WBPerson7492
  Reference: WBPaper00014470
    WBPaper00029020
    WBPaper00000031
    WBPaper00022590
    WBPaper00012627
    WBPaper00050047
    WBPaper00057125
  Method: Substitution_allele