WormBase Tree Display for Variation: WBVar00091816

WBVar00091816 Name: Public_name: ok529
    Other_name: F21H11.3.1:c.531+161_678+301del
    HGVSg: CHROMOSOME_III:g.5132260_5133341del
  Sequence_details: SMap: S_parent: Sequence: F21H11
    Flanking_sequences: ttccagtttttgctttaaaaaacttccaaa tgaaatgattggtggccaaaaggattactg
    Mapping_target: F21H11
    Type_of_mutation: Deletion
    PCR_product: ok529_external
      ok529_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035675
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00006543
    Transcript: F21H11.3.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F21H11.3.1:c.531+161_678+301del
        Intron_number: 4-5/6
        Exon_number: 5/7
    Interactor: WBInteraction000502644
      WBInteraction000502645
      WBInteraction000502646
      WBInteraction000502647
      WBInteraction000520057
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 4725
  Description: Phenotype: WBPhenotype:0000081 Paper_evidence: WBPaper00031910
        Curator_confirmed: WBPerson712
        Remark: Predicted null. Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00031910
                Curator_confirmed: WBPerson712
      WBPhenotype:0000816 Paper_evidence: WBPaper00031910
        Curator_confirmed: WBPerson712
        Remark: Predicted null. Animals had similar HSN and PHB defects to tbx-2( gm111) animals. Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00031910
                Curator_confirmed: WBPerson712
            WBbt:0007808 PATO:0000460 Paper_evidence: WBPaper00031910
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: gmIs13(srb-6Tgfp) Paper_evidence: WBPaper00031910
              Curator_confirmed: WBPerson712
      WBPhenotype:0001140 Paper_evidence: WBPaper00031910
        Curator_confirmed: WBPerson712
        Remark: HSNs were observed to migrate prematurely and were displaced posteriorly. Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00031910
              Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00031910
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: kyIs179[Punc-86::gfp] Paper_evidence: WBPaper00031910
              Curator_confirmed: WBPerson712
      WBPhenotype:0001333 Paper_evidence: WBPaper00031910
        Curator_confirmed: WBPerson712
        Remark: Animals are missing PHB phasmid neurons as assayed by quantifiying the number of gmIs13 reporter expressing phasmids. This phenotype is rescued by mutations in cell death promoting genes, ced-3, ced-4 or egl-1. Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031910
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007808 PATO:0000460 Paper_evidence: WBPaper00031910
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: gmIs13 Paper_evidence: WBPaper00031910
              Curator_confirmed: WBPerson712
  Reference: WBPaper00025775
    WBPaper00031910
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele