WormBase Tree Display for Variation: WBVar00143952

WBVar00143952 Evidence: Paper_evidence: WBPaper00003347
  Name: Public_name: e1375
    Other_name: CE26385:p.Met564CysfsTer7
      T07A9.6.1:c.1690_1691delinsTGCGTTGACTCAATGCGTTGACTCGTTGAC
    HGVSg: CHROMOSOME_IV:g.422294_422295delinsGTCAACGAGTCAACGCATTGAGTCAACGCA
  Sequence_details: SMap: S_parent: Sequence: T07A9
    Flanking_sequences: tcgacacggaggcttcaagcgttgactcaa gaatccaaaatggcgacctgaaccgtgtgc
    Mapping_target: T07A9
    Type_of_mutation (2)
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004234
      WBStrain00004311
      WBStrain00030724
      WBStrain00030758
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000913
    Transcript: T07A9.6.1 VEP_consequence: stop_gained,frameshift_variant
        VEP_impact: HIGH
        HGVSc: T07A9.6.1:c.1690_1691delinsTGCGTTGACTCAATGCGTTGACTCGTTGAC
        HGVSp: CE26385:p.Met564CysfsTer7
        cDNA_position: 1719-1720
        CDS_position: 1690-1691
        Protein_position: 564
        Exon_number: 5/9
        Codon_change: ATg/TGCGTTGACTCAATGCGTTGACTCGTTGACg
        Amino_acid_change: M/CVDSMR*LVDX
    Interactor (13)
  Genetics: Interpolated_map_position: IV -26.0122
    Mapping_data: In_2_point: 443
        5713
      In_multi_point: 337
  Description: Phenotype (9)
    Phenotype_not_observed: WBPhenotype:0000013 Paper_evidence: WBPaper00058674
        Curator_confirmed: WBPerson712
        Image: WBPicture0000014933 Paper_evidence: WBPaper00058674
            Curator_confirmed: WBPerson712
      WBPhenotype:0000966 Paper_evidence: WBPaper00028759
        Curator_confirmed: WBPerson557
        Remark: germline is immortal at 20 and 25 degrees Celsius Paper_evidence: WBPaper00028759
            Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Strains propagated for many generations and checked for sterility Paper_evidence: WBPaper00028759
              Curator_confirmed: WBPerson557
          Genotype: daf-18(e1375) Paper_evidence: WBPaper00028759
              Curator_confirmed: WBPerson557
      WBPhenotype:0001182 Paper_evidence: WBPaper00003347
        Curator_confirmed: WBPerson712
        Remark: daf-18(e1375) mutant animals in an age-1(+) background accumulate wild-type amounts of fat. Paper_evidence: WBPaper00003347
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00003347
            Curator_confirmed: WBPerson712
      WBPhenotype:0001653 Paper_evidence: WBPaper00026674
        Curator_confirmed: WBPerson2987
        Remark: Table 3 Paper_evidence: WBPaper00026674
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00003022 Paper_evidence: WBPaper00026674
              Curator_confirmed: WBPerson2987
      WBPhenotype:0002535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: FITC uptake is normal. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:162
    Models_disease_in_annotation: WBDOannot00000548
      WBDOannot00000563
  Reference (24)
  Remark: [190925 pad] Modified the RH flank to remove the deleted sequence "at" as this was causing an off by one error on the Mol details display and a context issue. Curator_confirmed: WBPerson1983
  Method: Deletion_and_insertion_allele