WormBase Tree Display for Variation: WBVar00145684

WBVar00145684 Name: Public_name: gk277
    Other_name: F22E12.4b.2:c.91_205-421del
      F22E12.4b.1:c.91_205-421del
      F22E12.4a.1:c.91_205-421del
      F22E12.4d.1:c.91_205-421del
      F22E12.4b.3:c.91_205-421del
    HGVSg: CHROMOSOME_V:g.10468959_10469979del
  Sequence_details: SMap: S_parent: Sequence: F22E12
    Flanking_sequences: tgaataattattcagatgctcagtcaacca cttttctagacacgtccatcaacaacatgc
    Mapping_target: F22E12
    Type_of_mutation: Deletion
    PCR_product: gk277_external
      gk277_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035885
      WBStrain00040830
    Laboratory: VC
    Person: WBPerson427
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00001178
    Transcript: F22E12.4b.3 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.3:c.91_205-421del
        cDNA_position: 91-?
        CDS_position: 91-?
        Protein_position: 31-?
        Intron_number: 2/10
        Exon_number: 2/11
      F22E12.4b.2 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.2:c.91_205-421del
        cDNA_position: 97-?
        CDS_position: 91-?
        Protein_position: 31-?
        Intron_number: 3/8
        Exon_number: 3/9
      F22E12.4a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4a.1:c.91_205-421del
        cDNA_position: 99-?
        CDS_position: 91-?
        Protein_position: 31-?
        Intron_number: 3/11
        Exon_number: 3/12
      F22E12.4b.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4b.1:c.91_205-421del
        cDNA_position: 99-?
        CDS_position: 91-?
        Protein_position: 31-?
        Intron_number: 3/10
        Exon_number: 3/11
      F22E12.4d.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F22E12.4d.1:c.91_205-421del
        cDNA_position: 99-?
        CDS_position: 91-?
        Protein_position: 31-?
        Intron_number: 3/10
        Exon_number: 3/11
  Isolation: Mutagen: TMP/UV
  Description: Phenotype: 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
    Phenotype_not_observed: WBPhenotype:0000135 Paper_evidence: WBPaper00035158
        Curator_confirmed: WBPerson2021
        Remark: Deletion of the MYND domain in egl-9(gk277) animals had no significant effect on the ability of EGL-9 to inhibit HIF-1 transcriptional activity Paper_evidence: WBPaper00035158
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Real time PCR for K10H10.2 mRNA Paper_evidence: WBPaper00035158
              Curator_confirmed: WBPerson2021
          Genotype: nhr-57p::GFP Paper_evidence: WBPaper00035158
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001645 Paper_evidence: WBPaper00035158
        Curator_confirmed: WBPerson2021
        Remark: HIF-1 protein levels were not significantly higher in egl-9(gk277), relative to animals containing the wild-type egl-9 gene 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