WormBase Tree Display for Variation: WBVar00248994

WBVar00248994 Evidence: Paper_evidence: WBPaper00024662
  Name: Public_name: sy441
    Other_name: Y53C10A.12.1:c.1754G>A
      CE22380:p.Trp585Ter
      Y53C10A.12.2:c.1754G>A
    HGVSg: CHROMOSOME_I:g.11955492C>T
  Sequence_details: SMap: S_parent: Sequence: Y53C10A
    Flanking_sequences: gtttcagagatttagtcagtaatcataatt ggatgattttgggaataatgtaccgttgga
    Mapping_target: Y53C10A
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00024662
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (18)
    Laboratory: PS
      DCD
    Status: Live
  Affects: Gene: WBGene00002004
    Transcript: Y53C10A.12.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y53C10A.12.2:c.1754G>A
        HGVSp: CE22380:p.Trp585Ter
        cDNA_position: 1926
        CDS_position: 1754
        Protein_position: 585
        Exon_number: 9/11
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      Y53C10A.12.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y53C10A.12.1:c.1754G>A
        HGVSp: CE22380:p.Trp585Ter
        cDNA_position: 1776
        CDS_position: 1754
        Protein_position: 585
        Exon_number: 8/10
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor (17)
  Genetics: Interpolated_map_position: I 13.0128
  Description: Phenotype (11)
    Phenotype_not_observed: WBPhenotype:0000054 Paper_evidence: WBPaper00038449
        Curator_confirmed: WBPerson3779
      WBPhenotype:0001838 Paper_evidence: WBPaper00040863
        Curator_confirmed: WBPerson2987
        Remark: hsf-1(sy441) mutant animals displayed an induction of ftn-1 mRNA expression in response to 25 millimolar iron (ferric ammonium citrate) similar to that of wild type animals (Figure S1A). Paper_evidence: WBPaper00040863
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00003020 Paper_evidence: WBPaper00040863
              Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: Animals were treated with iron (25 millimolar ferric ammonium citrate, FAC) and ftn-1 transcript levels measured by qRT-PCR Paper_evidence: WBPaper00040863
              Curator_confirmed: WBPerson2987
      WBPhenotype:0002423 Paper_evidence: WBPaper00049307
        Curator_confirmed: WBPerson2987
        Remark: "skn-1, hsf-1, trx-1 mutants did not suppress Neuro-Nmnat1(gcIs30[Neuro-m-nonN-Nmnat1]) increased hypoxic survival." (Figure S3a) Paper_evidence: WBPaper00049307
            Curator_confirmed: WBPerson2987
        EQ_annotations: GO_term: GO:0001666 PATO:0000460 Paper_evidence: WBPaper00049307
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: gcIs30 [Neuro-m-nonN-Nmnat1] Paper_evidence: WBPaper00049307
              Curator_confirmed: WBPerson2987
  Reference (18)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele