WormBase Tree Display for Variation: WBVar00091969

WBVar00091969 Name: Public_name: ok685
    Other_name: Y32F6B.3.1:c.57-273_186+256delinsTTCTT
    HGVSg: CHROMOSOME_V:g.10479248_10479906delinsTTCTT
  Sequence_details: SMap: S_parent: Sequence: Y32F6B
    Flanking_sequences: tgagattatcccacagaatgtttcttattt acattgaagaacaaacgctaaaaaaaccat
    Mapping_target: Y32F6B
    Type_of_mutation: Insertion: TTCTT
      Deletion
    PCR_product: ok685_external
      ok685_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031568
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00012532
      WBGene00196118
    Transcript: Y32F6B.5 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Exon_number: 1/1
      Y32F6B.3.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y32F6B.3.1:c.57-273_186+256delinsTTCTT
        Intron_number: 2-3/5
        Exon_number: 3/6
    Interactor: WBInteraction000502102
      WBInteraction000542206
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 5081
  Description: Phenotype: WBPhenotype:0001370 Paper_evidence: WBPaper00031857
        Curator_confirmed: WBPerson2021
        Remark: The functional complex between P97/VCP/CDC-48 and CRP-1 was absent in CPR-1mutant worm lysates Paper_evidence: WBPaper00031857
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Lysates containing GST-CRP-1 were mixed with His6-P97/VCP/CDC-48-containing lysate, followed by GST pull-down assays. Paper_evidence: WBPaper00031857
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001719 Paper_evidence: WBPaper00031857
        Curator_confirmed: WBPerson2021
        Remark: Attenuated expression of xbp-1 and ckb-2 and increased expression of hsp-4 and F22E5.6 in crp-1mutants compared to wild-type. xbp-1 mRNA splicing was slightly attenuated upon TM treatment in crp-1 mutants Paper_evidence: WBPaper00031857
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: tunicamycin treatment followed by RT-PCR of UPR target genes Paper_evidence: WBPaper00031857
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001724 Paper_evidence: WBPaper00031857
        Curator_confirmed: WBPerson2021
        Remark: crp-1 mutants were more sensitive to Tunicamycin than N2 worms. At 2 ug/ml of TM, more than 60% of all the crp-1mutants were arrested at the L1 stage Paper_evidence: WBPaper00031857
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 0-10 ug/ml tunicamycin Paper_evidence: WBPaper00031857
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001833 Paper_evidence: WBPaper00025137
        Curator_confirmed: WBPerson2021
        Remark: CHE-14 trafficking appeared to be altered significantly in crp-1(ok685) animals in both vulval and rectal epithelia. The distribution of C6-NBD ceramide was also altered. However, myotactin, IFB-2 and AJM-1 distribution was unaffected in crp-1(ok685) mutants Paper_evidence: WBPaper00025137
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00025137
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005800 PATO:0000460 Paper_evidence: WBPaper00025137
                Curator_confirmed: WBPerson2021
            WBbt:0007831 PATO:0000460 Paper_evidence: WBPaper00025137
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: MH46, MH33 and MH27antibody staining. C6-NBD-ceramide distribution was observed by direct fluorescence microscopy after ingestion of exogenous C6-NBD-ceramide/bovine serum albumin complex by young adults for 2 h, followed by a 2-h washing with M9 buffer Paper_evidence: WBPaper00025137
              Curator_confirmed: WBPerson2021
          Genotype: Ex[CHE-14::GFP] Paper_evidence: WBPaper00025137
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000520 Paper_evidence: WBPaper00025137
        Curator_confirmed: WBPerson2021
        Remark: No obvious morphological abnormality Paper_evidence: WBPaper00025137
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00025137
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00025137
                Curator_confirmed: WBPerson2021
            WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00025137
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00025137
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00025137
    WBPaper00031857
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele