WormBase Tree Display for Variation: WBVar00091832

WBVar00091832 Evidence: Paper_evidence: WBPaper00038207
  Name: Public_name: ok545
    Other_name: R08B4.2.1:c.441-123_487-71del
    HGVSg: CHROMOSOME_X:g.11123347_11124140del
  Sequence_details: SMap: S_parent: Sequence: R08B4
    Flanking_sequences: cactacgcaagaatatttaaattgtaagct ctgaattgagaccggaccttggtacttctt
    Mapping_target: R08B4
    Type_of_mutation: Deletion
    PCR_product: OK545_external
      OK545_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031476
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00044330
      WBGene00197137
    Transcript: R08B4.2.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R08B4.2.1:c.441-123_487-71del
        Intron_number: 4-5/7
        Exon_number: 5/8
      R08B4.7 VEP_consequence: non_coding_transcript_exon_variant
        VEP_impact: MODIFIER
        cDNA_position: 78-?
        Exon_number: 1/1
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0000456 Paper_evidence: WBPaper00038207
        Curator_confirmed: WBPerson712
        Remark: The touch insensitivity of alr-1(oy42) mutants could be rescued with a genomic fragment of alr-1 using a mec-3 promoter. Paper_evidence: WBPaper00038207
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001524 Paper_evidence: WBPaper00036308
        Curator_confirmed: WBPerson2987
        Remark: "We investigated a potential redundancy between ceh-17 and the most closely related Prd-like gene in the C_elegans genome, alr-1 (Wormbase WS210). However, the deletion mutation alr-1(ok545) has no effect on ALA-dependent sleep (Table 3)." Paper_evidence: WBPaper00036308
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0003955 PATO:0000460 Paper_evidence: WBPaper00036308
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: hs:LIN-3 Paper_evidence: WBPaper00036308
              Curator_confirmed: WBPerson2987
  Disease_info: Models_disease: DOID:0112038
    Models_disease_in_annotation: WBDOannot00000896
  Reference: WBPaper00038207
    WBPaper00036308
  Remark: Last updated on 29 Nov 2002
    Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele