WormBase Tree Display for Variation: WBVar00000466

WBVar00000466 Evidence: Paper_evidence: WBPaper00004323
  Name: Public_name: bn24
    Other_name: F54F7.5.1:c.1043_1044delinsAA
      CE28237:p.Trp348Ter
    HGVSg: CHROMOSOME_X:g.11859038_11859039delinsAA
  Sequence_details: SMap: S_parent: Sequence: F54F7
    Flanking_sequences: cgccgcctgtctcatcactaagttacaatt aacttatctcctactagtgaatatgagctt
    Mapping_target: F54F7
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: SS
    Status: Live
  Affects: Gene: WBGene00003219
    Transcript: F54F7.5.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54F7.5.1:c.1043_1044delinsAA
        HGVSp: CE28237:p.Trp348Ter
        cDNA_position: 1066-1067
        CDS_position: 1043-1044
        Protein_position: 348
        Exon_number: 8/14
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: X 6.7383
    Mapping_data: In_2_point: 6103
      In_multi_point: 2171
  Description: Phenotype: WBPhenotype:0001504 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: At 16 C, 8 percent of mutant progeny are sterile. At 25 C, 34 percent of mutant progeny are sterile Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
        Maternal
        Phenotype_assay: Temperature: 16 C , 25 C Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
          Genotype: lon-2(e678) Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000052 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00001477
    WBPaper00013902
  Remark: bn24 is either a W(348) to opal or W(348) to amber nonsense mutation. Paper_evidence: WBPaper00004323
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003219 Amber_UAG_or_Opal_UGA W(348) to stop Paper_evidence: WBPaper00004323
  Method: Substitution_allele