WormBase Tree Display for Variation: WBVar00000504

WBVar00000504 Evidence: Person_evidence: WBPerson616
  Name: Public_name: bn128
    Other_name: Y65B4BL.2b.1:c.1087C>T
      CE25536:p.Gln408Ter
      Y65B4BL.2a.1:c.1222C>T
      CE49430:p.Gln363Ter
    HGVSg: CHROMOSOME_I:g.508046C>T
  Sequence_details: SMap: S_parent: Sequence: Y65B4BL
    Flanking_sequences: TCCATTTTTGAAAACTGGCTTCGTGATACT AGGTCTCTAAAGTTAAATTAAACTCGTCCTT
    Mapping_target: Y65B4BL
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson616
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: SS
    Status: Live
  Affects: Gene: WBGene00022034
    Transcript: Y65B4BL.2a.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: Y65B4BL.2a.1:c.1222C>T
        HGVSp: CE25536:p.Gln408Ter
        cDNA_position: 1226
        CDS_position: 1222
        Protein_position: 408
        Exon_number: 9/14
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      Y65B4BL.2b.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: Y65B4BL.2b.1:c.1087C>T
        HGVSp: CE49430:p.Gln363Ter
        cDNA_position: 1087
        CDS_position: 1087
        Protein_position: 363
        Exon_number: 7/11
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
  Isolation: Mutagen: EMS Person_evidence: WBPerson616
  Genetics: Interpolated_map_position: I -18.9828
  Description: Phenotype: WBPhenotype:0000154 Person_evidence: WBPerson616
        Curator_confirmed: WBPerson557
        Remark: Reduced brood sizes and many dead eggs at 15-20C. More embryonic lethality at low temps than other deps-1 alleles. 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 82% 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
  Method: Substitution_allele