WormBase Tree Display for Variation: WBVar00093798

WBVar00093798 Name: Public_name: ok2694
    Other_name: Y42A5A.4b.1:c.848-17_1341del
      Y42A5A.4a.1:c.455-17_948del
      Y42A5A.4c.1:c.545-17_1038del
    HGVSg: CHROMOSOME_V:g.11106516_11107162del
  Sequence_details: SMap: S_parent: Sequence: Y42A5A
    Flanking_sequences: catactagttcataccagtcaaattgaaat ggaaattcgaacaatttggtttcaaaaaat
    Mapping_target: Y42A5A
    Type_of_mutation: Deletion
    PCR_product: ok2694_external
      ok2694_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00032720
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00012779
    Transcript: Y42A5A.4c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y42A5A.4c.1:c.545-17_1038del
        cDNA_position: ?-1038
        CDS_position: ?-1038
        Protein_position: ?-346
        Intron_number: 4-7/7
        Exon_number: 5-8/8
      Y42A5A.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y42A5A.4a.1:c.455-17_948del
        cDNA_position: ?-948
        CDS_position: ?-948
        Protein_position: ?-316
        Intron_number: 3-6/7
        Exon_number: 4-7/8
      Y42A5A.4b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y42A5A.4b.1:c.848-17_1341del
        cDNA_position: ?-1423
        CDS_position: ?-1341
        Protein_position: ?-447
        Intron_number: 7-10/11
        Exon_number: 8-11/12
    Interactor: WBInteraction000579024
      WBInteraction000579026
  Isolation: Mutagen: EMS
  Description: Phenotype: WBPhenotype:0000615 Paper_evidence: WBPaper00064313
        Curator_confirmed: WBPerson712
        Remark: "While a subset of rod-like cilia containing well-defined ciliary middle segments is markedly elongated in cdkl-1 mutants (Canning et al., 2018; Park et al., 2021), the overall lengths of the rod-like cilia of the ASH neurons are more weakly affected in this mutant background with a broader distribution of cilia lengths as reported previously (Park et al., 2021) (Figure 1A-B)." "The morphology of the AWA cilia that lack clearly demarcated middle and distal ciliary segments was also only weakly affected in cdkl-1 mutants (Figure 1C-D)..." Paper_evidence: WBPaper00064313
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005665 PATO:0000460 Paper_evidence: WBPaper00064313
                Curator_confirmed: WBPerson712
            WBbt:0005670 PATO:0000460 Paper_evidence: WBPaper00064313
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: cdkl-1(ok2694); Ex[sra-6p::myr-gfp; unc-122p::mCherry] and oyIs87[gpa-46p::myr-gfp]; cdkl-1(ok2694) Paper_evidence: WBPaper00064313
              Curator_confirmed: WBPerson712
  Reference: WBPaper00064313
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele