WormBase Tree Display for Variation: WBVar00093616

WBVar00093616 Name: Public_name: ok2471
    Other_name: K11D12.10b.1:c.309-302_1652-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
      K11D12.10d.1:c.309-302_1652-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
      K11D12.10c.1:c.309-302_1895-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
      K11D12.10a.1:c.309-302_1895-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
    HGVSg: CHROMOSOME_V:g.5060218_5063188delinsCATGATCTTTATGCGGGAAGTGGTGATATAAATCGAAAAAATCGGCATTCCATCGCGCCGGAAACCAAAGCAAGACGGTTAAAGCATCATAAACCAAAAAAAGCCGACATAACGGGTCCGACAGAAGTGAAACATATATTGTCTGTGCAAAAGGATGATAAAAATTTTAGAGTTAAAAGTAAGTTATATGGTTTAATATTCAATAAAATTGAAAGTTTTTTTGCATGCGTCATTTGGTATAGTAGAAACAATAATTTGAAATAAATATTAAACGTAAAATCAAGATTGCATGCTAGGGTTTCCATGGTAGGCAGGCGTGACCTAGTGCCTGCCTGAAAACTGCCGACCACATGCCTCTTTTCTACATTTTGGCAGAAATTTCAGGCAGGCGTTTTGGCGCCTACATGGAAGCCCAATAGCATGCAATTGTTCGTTCCGTTTACTTCTCATATGAAACTTATCTGCTAAATTAATATTAACATAGGATATTTTTGAGTCGAAAACAC
  Sequence_details: SMap: S_parent: Sequence: Y58A7A
    Flanking_sequences: ctcatcggcattgtcgactgaaagtttatt attagctcaattttttgcaaaactaacttg
    Mapping_target: Y58A7A
    Type_of_mutation: Insertion: CATGATCTTTATGCGGGAAGTGGTGATATAAATCGAAAAAATCGGCATTCCATCGCGCCGGAAACCAAAGCAAGACGGTTAAAGCATCATAAACCAAAAAAAGCCGACATAACGGGTCCGACAGAAGTGAAACATATATTGTCTGTGCAAAAGGATGATAAAAATTTTAGAGTTAAAAGTAAGTTATATGGTTTAATATTCAATAAAATTGAAAGTTTTTTTGCATGCGTCATTTGGTATAGTAGAAACAATAATTTGAAATAAATATTAAACGTAAAATCAAGATTGCATGCTAGGGTTTCCATGGTAGGCAGGCGTGACCTAGTGCCTGCCTGAAAACTGCCGACCACATGCCTCTTTTCTACATTTTGGCAGAAATTTCAGGCAGGCGTTTTGGCGCCTACATGGAAGCCCAATAGCATGCAATTGTTCGTTCCGTTTACTTCTCATATGAAACTTATCTGCTAAATTAATATTAACATAGGATATTTTTGAGTCGAAAACAC
      Deletion
    PCR_product: ok2471_external
      ok2471_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00032593
      WBStrain00047852
      WBStrain00055934
      WBStrain00055935
    Laboratory: RB
      JN
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00197301
      WBGene00003374
    Transcript: K11D12.10d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K11D12.10d.1:c.309-302_1652-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
        Intron_number: 3-10/15
        Exon_number: 4-10/16
      K11D12.10b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K11D12.10b.1:c.309-302_1652-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
        Intron_number: 4-11/17
        Exon_number: 5-11/18
      K11D12.10c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K11D12.10c.1:c.309-302_1895-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
        Intron_number: 4-12/18
        Exon_number: 5-12/19
      Y58A7A.9 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Exon_number: 1/1
      K11D12.10a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K11D12.10a.1:c.309-302_1895-14delinsGTGTTTTCGACTCAAAAATATCCTATGTTAATATTAATTTAGCAGATAAGTTTCATATGAGAAGTAAACGGAACGAACAATTGCATGCTATTGGGCTTCCATGTAGGCGCCAAAACGCCTGCCTGAAATTTCTGCCAAAATGTAGAAAAGAGGCATGTGGTCGGCAGTTTTCAGGCAGGCACTAGGTCACGCCTGCCTACCATGGAAACCCTAGCATGCAATCTTGATTTTACGTTTAATATTTATTTCAAATTATTGTTTCTACTATACCAAATGACGCATGCAAAAAAACTTTCAATTTTATTGAATATTAAACCATATAACTTACTTTTAACTCTAAAATTTTTATCATCCTTTTGCACAGACAATATATGTTTCACTTCTGTCGGACCCGTTATGTCGGCTTTTTTTGGTTTATGATGCTTTAACCGTCTTGCTTTGGTTTCCGGCGCGATGGAATGCCGATTTTTTCGATTTATATCACCACTTCCCGCATAAAGATCATG
        Intron_number: 4-12/17
        Exon_number: 5-12/18
    Interactor: WBInteraction000534880
      WBInteraction000537421
      WBInteraction000537514
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0001013 Paper_evidence: WBPaper00045829
        Curator_confirmed: WBPerson2987
        Remark: Figure 4d Paper_evidence: WBPaper00045829
            Curator_confirmed: WBPerson2987
        EQ_annotations: GO_term: GO:0045087 PATO:0000460 Paper_evidence: WBPaper00045829
                Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0002212 Paper_evidence: WBPaper00048972
        Curator_confirmed: WBPerson2987
        Remark: Figure 1A,B Paper_evidence: WBPaper00048972
            Curator_confirmed: WBPerson2987
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00048972
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0005391 PATO:0000460 Paper_evidence: WBPaper00048972
                Curator_confirmed: WBPerson2987
      WBPhenotype:0002423 Paper_evidence: WBPaper00049307
        Curator_confirmed: WBPerson2987
        Remark: "Multiple MAP kinase pathways were not required for Neuro-Nmnat1(gcIs30[Neuro-m-nonN-Nmnat1]) hypoxic survival." (Figure S3c) 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: WBPaper00045829
    WBPaper00048972
    WBPaper00049307
    WBPaper00066032
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele