WormBase Tree Display for Variation: WBVar00092006

WBVar00092006 Evidence: Paper_evidence: WBPaper00033412
  Name: Public_name: ok724
    Other_name: R10E4.5d.1:c.193-153_482del
      R10E4.5a.1:c.178-153_467del
    HGVSg: CHROMOSOME_III:g.4292192_4292984del
  Sequence_details: SMap: S_parent: Sequence: R10E4
    Flanking_sequences: cattctccccaagcaatttgcatgacgaga ctgtaatgtcaaactgtcgttgatgcggga
    Mapping_target: R10E4
    Type_of_mutation: Deletion
    PCR_product: ok724_external
      ok724_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031590
    Component_of_genotype: WBGenotype00000107
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00305560
      WBGene00011201
    Transcript: R10E4.5b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-260
        CDS_position: ?-260
        Protein_position: ?-87
        Intron_number: 1-2/4
        Exon_number: 1-3/5
      R10E4.13
      R10E4.5a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10E4.5a.1:c.178-153_467del
        cDNA_position: ?-468
        CDS_position: ?-467
        Protein_position: ?-156
        Intron_number: 2-4/7
        Exon_number: 3-5/8
      R10E4.5d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R10E4.5d.1:c.193-153_482del
        cDNA_position: ?-1322
        CDS_position: ?-482
        Protein_position: ?-161
        Intron_number: 2-4/7
        Exon_number: 3-5/8
      R10E4.5c.1 VEP_consequence: coding_sequence_variant,5_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-8
        CDS_position: ?-8
        Protein_position: ?-3
        Exon_number: 1/3
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0001016 Paper_evidence: WBPaper00041521
        Curator_confirmed: WBPerson3701
        Remark: normal rate of growth (compared to N2) to adulthood after exposure to hydrogen peroxide or methylmethanesulfonate. Paper_evidence: WBPaper00041521
            Curator_confirmed: WBPerson3701
      WBPhenotype:0001938 Paper_evidence: WBPaper00041521
        Curator_confirmed: WBPerson3701
        Remark: same DNA repair rate in nuclear and mitochondrial genomes, after exposure to hydrogen peroxide or methylmethanesulfonate. Paper_evidence: WBPaper00041521
            Curator_confirmed: WBPerson3701
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00033412
        Curator_confirmed: WBPerson2021
        Remark: nth-1mutants had a lifespan similar to N2 Paper_evidence: WBPaper00033412
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000114 Paper_evidence: WBPaper00044630
        Curator_confirmed: WBPerson2987
        Remark: The nth-1(ok724) mutation did not significantly affect pmk-1 mRNA expression levels, compared to wild type controls, as determined by qRT-PCR (Figure S2) Paper_evidence: WBPaper00044630
            Curator_confirmed: WBPerson2987
      WBPhenotype:0000460 Paper_evidence: WBPaper00033412
        Curator_confirmed: WBPerson2021
        Remark: nth-1mutants were not more sensitive to methyl viologen (compared to N2). Paper_evidence: WBPaper00033412
            Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00002747 Paper_evidence: WBPaper00033412
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001620 Paper_evidence: WBPaper00033412
        Curator_confirmed: WBPerson2021
        Remark: nth-1mutants were not more sensitive to H2O2 (compared to N2). Paper_evidence: WBPaper00033412
            Curator_confirmed: WBPerson2021
  Disease_info: Modifies_disease: DOID:14330
    Modifies_disease_in_annotation: WBDOannot00001159
  Reference: WBPaper00041521
    WBPaper00033412
    WBPaper00044630
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele