WormBase Tree Display for Variation: WBVar00142924

WBVar00142924 Evidence: Paper_evidence: WBPaper00025184
  Name: Public_name: e30
    Other_name (12)
    HGVSg: CHROMOSOME_V:g.11908351G>A
  Sequence_details: SMap: S_parent: Sequence: R31
    Flanking_sequences: caagaagcaggaagcactcagaaccgcatg aacacactgtgtgaatacatcgaagcacgt
    Mapping_target: R31
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00025184
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (14)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00004855
    Transcript: R31.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1e.1:c.5889G>A
        HGVSp: CE52987:p.Trp1963Ter
        cDNA_position: 5889
        CDS_position: 5889
        Protein_position: 1963
        Exon_number: 8/17
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      R31.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1a.1:c.5889G>A
        HGVSp: CE41581:p.Trp1963Ter
        cDNA_position: 6004
        CDS_position: 5889
        Protein_position: 1963
        Exon_number: 9/20
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      R31.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1c.1:c.5331G>A
        HGVSp: CE46009:p.Trp1777Ter
        cDNA_position: 5331
        CDS_position: 5331
        Protein_position: 1777
        Exon_number: 5/15
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      R31.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1b.1:c.5580G>A
        HGVSp: CE27773:p.Trp1860Ter
        cDNA_position: 5580
        CDS_position: 5580
        Protein_position: 1860
        Exon_number: 7/17
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      R31.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1d.1:c.5580G>A
        HGVSp: CE46252:p.Trp1860Ter
        cDNA_position: 5822
        CDS_position: 5580
        Protein_position: 1860
        Exon_number: 8/18
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      R31.1f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R31.1f.1:c.5331G>A
        HGVSp: CE53064:p.Trp1777Ter
        cDNA_position: 5331
        CDS_position: 5331
        Protein_position: 1777
        Exon_number: 5/14
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000500863
  Genetics: Interpolated_map_position: V 3.53978
    Mapping_data: In_2_point (12)
      In_multi_point (74)
      In_pos_neg_data: 296
        852
        867
        1742
        1754
        1815
        2130
        3408
        6770
        6869
  Description: Phenotype: WBPhenotype:0000071 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
        Remark: larvae have shortened, round heads Paper_evidence: WBPaper00000031
            Curator_confirmed: WBPerson48
      WBPhenotype:0000229 Paper_evidence: WBPaper00000031
          WBPaper00038069
          WBPaper00003094
        Curator_confirmed: WBPerson48
          WBPerson712
          WBPerson415
        Remark: Double mutants of show additive effects. Paper_evidence: WBPaper00038069
            Curator_confirmed: WBPerson712
      WBPhenotype:0000322 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: round-headed, especially in early larvae Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: short, especially in early larvae Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000469 Paper_evidence: WBPaper00061063
        Curator_confirmed: WBPerson172
        Remark: Fig 2B Paper_evidence: WBPaper00061063
            Curator_confirmed: WBPerson172
      WBPhenotype:0000645 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adults have slight rolling tendency Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000901 Paper_evidence: WBPaper00040002
        Curator_confirmed: WBPerson712
        Remark: animals exhibited the same defects observed in iv38 homozygotes Paper_evidence: WBPaper00040002
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005788 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00040002
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference (15)
  Method: Substitution_allele