WormBase Tree Display for Variation: WBVar00091766

WBVar00091766 Name: Public_name: ok478
    Other_name: F22E12.4e.1:c.649-179_951-88delinsCATTG
      F22E12.4c.1:c.102+63_405-88delinsCATTG
      F22E12.4b.1:c.877-179_1084-88delinsCATTG
      F22E12.4a.1:c.877-179_1179-88delinsCATTG
      F22E12.4b.2:c.877-179_1084-88delinsCATTG
      F22E12.4d.1:c.877-179_1179-88delinsCATTG
      F22E12.4b.3:c.877-179_1084-88delinsCATTG
    HGVSg: CHROMOSOME_V:g.10473501_10474724delinsCATTG
  Sequence_details: SMap: S_parent: Sequence: Y32F6B
    Flanking_sequences: ctgtgccaacgattcaaagaccacaatttt taattttaatgcgatataaattttttgaac
    Mapping_target: Y32F6B
    Type_of_mutation: Insertion: CATTGG
      Deletion
    PCR_product: ok478_external
      ok478_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035737
      WBStrain00040833
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00001178
      WBGene00220138
    Transcript: F22E12.4b.3 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.3:c.877-179_1084-88delinsCATTG
        Intron_number: 4-6/10
        Exon_number: 5-6/11
      F22E12.4c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4c.1:c.102+63_405-88delinsCATTG
        Intron_number: 2-5/8
        Exon_number: 3-5/9
      F22E12.4e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4e.1:c.649-179_951-88delinsCATTG
        Intron_number: 2-5/7
        Exon_number: 3-5/8
      F22E12.4b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.2:c.877-179_1084-88delinsCATTG
        Intron_number: 5-7/8
        Exon_number: 6-7/9
      F22E12.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4a.1:c.877-179_1179-88delinsCATTG
        Intron_number: 5-8/11
        Exon_number: 6-8/12
      F22E12.4b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.1:c.877-179_1084-88delinsCATTG
        Intron_number: 5-7/10
        Exon_number: 6-7/11
      Y32F6B.8 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Exon_number: 1/1
      F22E12.4d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4d.1:c.877-179_1179-88delinsCATTG
        Intron_number: 5-8/10
        Exon_number: 6-8/11
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0000135 Paper_evidence: WBPaper00035158
        Curator_confirmed: WBPerson2021
        Remark: egl-9 mutation caused over-expression of Pnhr-57::GFP Paper_evidence: WBPaper00035158
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: nhr-57p::GFP Paper_evidence: WBPaper00035158
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000384 Paper_evidence: WBPaper00031981
        Curator_confirmed: WBPerson712
        Remark: Animals showed axon-pathfinding defects along the ventral midline. Paper_evidence: WBPaper00031981
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031981
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006976 PATO:0000460 Paper_evidence: WBPaper00031981
                Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00035158
        Curator_confirmed: WBPerson2021
        Remark: egl-9 allele severely disabled oxygen-dependent degradation of HIF-1 Paper_evidence: WBPaper00035158
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Western blots Paper_evidence: WBPaper00035158
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00031981
    WBPaper00035158
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele