WormBase Tree Display for Variation: WBVar00091724

WBVar00091724 Evidence: Paper_evidence: WBPaper00028382
  Name: Public_name: ok430
    Other_name: CE25042:p.Tyr454_Ter796delinsTer
      K04G7.3b.1:c.828_1853delinsAGGGGGATCTAAAGTCTCTAGGGAGTCTAGGGAGGTCTATTTTGCCAAACATTTCCAGTCACTGTTTGAATTCTTTCTAAATTATTCCTCATTCAATAAAACAAAATTTATTGCATTTTATTTTTTCGAGATCTAAATTGT
      K04G7.3a.1:c.1362_2387delinsAGGGGGATCTAAAGTCTCTAGGGAGTCTAGGGAGGTCTATTTTGCCAAACATTTCCAGTCACTGTTTGAATTCTTTCTAAATTATTCCTCATTCAATAAAACAAAATTTATTGCATTTTATTTTTTCGAGATCTAAATTGT
      CE39588:p.Tyr276_Ter618delinsTer
    HGVSg: CHROMOSOME_III:g.7148323_7149416delinsACAATTTAGATCTCGAAAAAATAAAATGCAATAAATTTTGTTTTATTGAATGAGGAATAATTTAGAAAGAATTCAAACAGTGACTGGAAATGTTTGGCAAAATAGACCTCCCTAGACTCCCTAGAGACTTTAGATCCCCCT
  Sequence_details: SMap: S_parent: Sequence: K04G7
    Flanking_sequences: ATATATGCGAGCTTCTCTGTAAATGCATTT TATAGTCGAGTGGCATCTTCGATCTTTCCT
    Mapping_target: K04G7
    Type_of_mutation: Insertion: acaatttagatctcgaaaaaataaaatgcaataaattttgttttattgaatgaggaataatttagaaagaattcaaacagtgactggaaatgtttggcaaaatagacctccctagactccctagagactttagatccccct
      Deletion
    PCR_product: OK430_external
      OK430_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031394
      WBStrain00055877
    Laboratory: RB
      JH
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00003858
    Transcript: K04G7.3a.1 (11)
      K04G7.3b.1 (11)
    Interactor: WBInteraction000504353
      WBInteraction000518026
      WBInteraction000518027
      WBInteraction000518031
      WBInteraction000518543
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 4557
  Description: Phenotype (14)
    Phenotype_not_observed: WBPhenotype:0000070 Paper_evidence: WBPaper00064694
        Curator_confirmed: WBPerson60111
        Remark: Fig S3, male tail rays normal Paper_evidence: WBPaper00064694
            Curator_confirmed: WBPerson60111
        Phenotype_assay: Genotype: him-5(e1490) V Paper_evidence: WBPaper00064694
              Curator_confirmed: WBPerson60111
      WBPhenotype:0000673 Paper_evidence: WBPaper00036090
        Curator_confirmed: WBPerson2987
        Remark: "In addition to lifespan regulation and dauer formation, the DAF-2 insulin-like receptor also regulates fertility: daf-2(e1370) mutations reduce fertility in a DAF-16 and temperature-dependent manner (31) (Fig 4D). However, although mutations in oga-1 and ogt-1 modulate dauer formation and lifespan in a daf-2(e1370) mutant, there was no statistical difference in brood size among the three strains (Fig 4D). These findings suggest that O-GlcNAc cycling is important for control of dauer formation and lifespan regulation, but not hermaphrodite self-fertilization and reproduction." Paper_evidence: WBPaper00036090
            Curator_confirmed: WBPerson2987
  Disease_info: Models_disease: DOID:9351
      DOID:9352
    Models_disease_in_annotation: WBDOannot00000733
      WBDOannot00000734
      WBDOannot00000915
      WBDOannot00000916
  Reference: WBPaper00038233
    WBPaper00035502
    WBPaper00036090
    WBPaper00045080
    WBPaper00065742
    WBPaper00064694
  Remark: Deletion allele generates a truncated protein of 465 aa that lacks catalytic activity Paper_evidence: WBPaper00028382
    Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele