WormBase Tree Display for Variation: WBVar00143806

WBVar00143806 Evidence: Paper_evidence: WBPaper00005177
  Name: Public_name: e1180
    Other_name: CE20819:p.Pro20ThrfsTer12
      F46E10.9.2:c.54dup
      F46E10.9.1:c.54dup
    HGVSg: CHROMOSOME_V:g.6513291dup
  Sequence_details: SMap: S_parent: Sequence: F46E10
    Flanking_sequences: ctcggacttttcgccgttggagtctcgggg ggacctaccagatcttccaagctcgtcttt
    Mapping_target: F46E10
    Type_of_mutation: Insertion: g
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004263
      WBStrain00007270
      WBStrain00007454
      WBStrain00007455
      WBStrain00007456
      WBStrain00007457
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00001073
    Transcript: F46E10.9.2 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F46E10.9.2:c.54dup
        HGVSp: CE20819:p.Pro20ThrfsTer12
        cDNA_position: 208-209
        CDS_position: 54-55
        Protein_position: 18-19
        Exon_number: 3/9
        Codon_change: -/G
        Amino_acid_change: -/X
      F46E10.9.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F46E10.9.1:c.54dup
        HGVSp: CE20819:p.Pro20ThrfsTer12
        cDNA_position: 55-56
        CDS_position: 54-55
        Protein_position: 18-19
        Exon_number: 2/8
        Codon_change: -/G
        Amino_acid_change: -/X
    Interactor: WBInteraction000537327
  Genetics: Interpolated_map_position: V -0.00140555
  Description: Phenotype: WBPhenotype:0000070 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Variation_effect: Null: Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000505 Paper_evidence: WBPaper00005177
        Curator_confirmed: WBPerson2987
        Remark: "Strong Dpy and Ram phenotypes were found in e33, e207, e504, e752, e794, e1180 and s261 alleles (Fig. 1 B, J)." Paper_evidence: WBPaper00005177
            Curator_confirmed: WBPerson2987
        EQ_annotations: GO_term: GO:0048666 PATO:0000460 Paper_evidence: WBPaper00005177
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000583 Paper_evidence: WBPaper00005747
          WBPaper00005177
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: stronger dumpy than e224, or 'piggy' phenotype Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Authors report "medium dpy" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
          "Strong Dpy and Ram phenotypes were found in e33, e207, e504, e752, e794, e1180 and s261 alleles (Fig. 1 B, J)." Paper_evidence: WBPaper00005177
            Curator_confirmed: WBPerson2987
        Variation_effect: Null: Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000961 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001412 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "abnormal branched ala" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Variation_effect: Null: Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001517 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "missing or amorphous annuli" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Variation_effect: Null: Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00005747
    WBPaper00005177
    WBPaper00015216
  Method: Insertion_allele