WormBase Tree Display for Variation: WBVar00092073

WBVar00092073 Name: Public_name: ok793
    Other_name: C16C10.7a.1:c.315+1_316-50delinsACCAC
      C16C10.7b.1:c.315+1_316-50delinsACCAC
    HGVSg: CHROMOSOME_III:g.4165410_4165917delinsGTGGT
  Sequence_details: SMap: S_parent: Sequence: C16C10
    Flanking_sequences: attttgttagtttttgggtgtgtgtgtgtt cggtggtggttcacttcgttgtccttttgg
    Mapping_target: C16C10
    Type_of_mutation: Insertion: GTGGT
      Deletion
    PCR_product: ok793_external
      ok793_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031634
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00004381
    Transcript: C16C10.7a.1 VEP_consequence: splice_donor_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C16C10.7a.1:c.315+1_316-50delinsACCAC
        Intron_number: 3/5
      C16C10.7b.1 VEP_consequence: splice_donor_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C16C10.7b.1:c.315+1_316-50delinsACCAC
        Intron_number: 3/6
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 4785
  Description: Phenotype: WBPhenotype:0001806 Paper_evidence: WBPaper00041076
        Curator_confirmed: WBPerson2987
        Remark: "Functional inhibition of other ERAD regulators, including the ER chaperone calreticulin, and the RING finger E3 ubiquitin ligase rnf-5, also weakly stabilized PGP-3(ΔF508) (Table 1; supplementary material Table S2)." Paper_evidence: WBPaper00041076
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: drSi5 [Cbr-unc-119(+); vha-6p::3XFLAG-pgp-3(CFTR deletion F508)-mCherry::unc-54] Paper_evidence: WBPaper00041076
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00041076
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele