WormBase Tree Display for Variation: WBVar00000499

WBVar00000499 Evidence: Person_evidence: WBPerson616
  Name: Public_name: bn121
    Other_name: CE49430:p.Met201IlefsTer2
      Y65B4BL.2a.1:c.737_921del
      Y65B4BL.2b.1:c.602_786del
      CE25536:p.Met246IlefsTer2
    HGVSg: CHROMOSOME_I:g.507464_507648del
  Sequence_details: SMap: S_parent: Sequence: Y65B4BL
    Flanking_sequences: TTGACAATTTGATTTTGCAGGTCATCAAGA TATGAGCTTCAGCCAGTTCCACTTCTCAGAC
    Mapping_target: Y65B4BL
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034459
    Laboratory: SS
    Status: Live
  Affects: Gene: WBGene00022034
    Transcript: Y65B4BL.2a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y65B4BL.2a.1:c.737_921del
        HGVSp: CE25536:p.Met246IlefsTer2
        cDNA_position: 741-925
        CDS_position: 737-921
        Protein_position: 246-307
        Exon_number: 7/14
        Codon_change: aTGCAGCTTGGCCTGTATGTCGGCGAACGCCTACTGATTTGCAAAGAACTCTCGCAGTTCGACTTTATTATCCCACTGCAGAAGCCATTTTCCCGAGGAACGGACAAGACTTTGATCTACCCAGCCGTCGGAGAATACTTTCATTTCAGTGCTATTTGGTCGATGCAGCACAACGGTTTTCTGATC/a
        Amino_acid_change: MQLGLYVGERLLICKELSQFDFIIPLQKPFSRGTDKTLIYPAVGEYFHFSAIWSMQHNGFLI/X
      Y65B4BL.2b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: Y65B4BL.2b.1:c.602_786del
        HGVSp: CE49430:p.Met201IlefsTer2
        cDNA_position: 602-786
        CDS_position: 602-786
        Protein_position: 201-262
        Exon_number: 5/11
        Codon_change: aTGCAGCTTGGCCTGTATGTCGGCGAACGCCTACTGATTTGCAAAGAACTCTCGCAGTTCGACTTTATTATCCCACTGCAGAAGCCATTTTCCCGAGGAACGGACAAGACTTTGATCTACCCAGCCGTCGGAGAATACTTTCATTTCAGTGCTATTTGGTCGATGCAGCACAACGGTTTTCTGATC/a
        Amino_acid_change: MQLGLYVGERLLICKELSQFDFIIPLQKPFSRGTDKTLIYPAVGEYFHFSAIWSMQHNGFLI/X
    Interactor: WBInteraction000503464
      WBInteraction000503465
      WBInteraction000503466
      WBInteraction000503467
      WBInteraction000503468
      WBInteraction000503469
      WBInteraction000503470
  Isolation: Mutagen: EMS Person_evidence: WBPerson616
  Genetics: Interpolated_map_position: I -18.9835
  Description: Phenotype: WBPhenotype:0000154 Person_evidence: WBPerson616
        Curator_confirmed: WBPerson557
        Remark: reduced brood sizes and many dead eggs at 15-20C Person_evidence: WBPerson616
            Curator_confirmed: WBPerson557
        Phenotype_assay: Temperature: 20 Person_evidence: WBPerson616
              Curator_confirmed: WBPerson557
      WBPhenotype:0001408 Person_evidence: WBPerson616
        Curator_confirmed: WBPerson557
        Remark: mislocalized GFP::PGL-1 Person_evidence: WBPerson616
            Curator_confirmed: WBPerson557
        Phenotype_assay: Temperature: 25 Person_evidence: WBPerson616
              Curator_confirmed: WBPerson557
          Genotype: pie-1::gfp::pgl-1 Person_evidence: WBPerson616
              Curator_confirmed: WBPerson557
      WBPhenotype:0001504 Person_evidence: WBPerson616
        Curator_confirmed: WBPerson557
        Remark: approximately 92% sterile at 24.5 C Person_evidence: WBPerson616
            Curator_confirmed: WBPerson557
        Penetrance: Incomplete: Person_evidence: WBPerson616
              Curator_confirmed: WBPerson557
        Recessive: Person_evidence: WBPerson616
          Curator_confirmed: WBPerson557
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson616
              Curator_confirmed: WBPerson557
        Maternal
        Phenotype_assay: Temperature: 25 Person_evidence: WBPerson616
              Curator_confirmed: WBPerson557
      WBPhenotype:0001776 Paper_evidence: WBPaper00035324
        Curator_confirmed: WBPerson2021
        Remark: The expression of a 26G RNA (26G-S4) is dramatically reduced when its target deps-1 is mutated Paper_evidence: WBPaper00035324
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00035324
  Method: Deletion_allele