WormBase Tree Display for Variation: WBVar00091984

WBVar00091984 Evidence: Paper_evidence: WBPaper00025094
  Name: Public_name: ok700
    Other_name: T19E7.3a.1:c.500+222_943-242delinsAAAAAAAAGTTTG
    HGVSg: CHROMOSOME_IV:g.5661767_5663143delinsCAAACTTTTTTTT
  Sequence_details: SMap: S_parent: Sequence: T19E7
    Flanking_sequences: ttcacccaattatttaaataaaatttatta cacaaactttttgagaaagcttcagagcat
    Mapping_target: T19E7
    Type_of_mutation: Insertion: CAAACTTTTTTTT
      Deletion
    PCR_product: ok700_external
      ok700_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035759
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00197238
      WBGene00000247
    Transcript: T19E7.24 VEP_consequence: transcript_ablation
        VEP_impact: HIGH
        Exon_number: 1/1
      T19E7.3b.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/1
        Exon_number: 1/2
      T19E7.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T19E7.3a.1:c.500+222_943-242delinsAAAAAAAAGTTTG
        Intron_number: 4-7/8
        Exon_number: 5-7/9
    Interactor: WBInteraction000504612
      WBInteraction000525221
      WBInteraction000525247
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0000679 Paper_evidence: WBPaper00044390
        Curator_confirmed: WBPerson2987
        Remark: Authors found that phagosomal association of GFP-RAB-5, which is recruited at early phagosome maturation stages, decreased significantly in bec-1(ok700) mutants (Figure 1G). Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
          Authors found that phagosomal association of GFP-RAB-7, which is recruited at late phagosome maturation stages, decreased significantly in bec-1(ok700) mutants (Figure 1H). Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
          Phagosomal labeling by the lysosomal membrane protein LAAT-1 was reduced in bec-1(ok700) mutants (Figure 1I). Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: GFP-RAB-5 Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
            GFP-RAB-7 Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
            LAAT-1-mCHERRY Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001181 Paper_evidence: WBPaper00044390
        Curator_confirmed: WBPerson2987
        Remark: The bec-1(ok700) mutation resulted in a significant increase in the number of cell corpses observed in embryos (Table 1, Figure S1A,B) Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001846 Paper_evidence: WBPaper00044390
        Curator_confirmed: WBPerson2987
        Remark: Authors found that phagosomal association of GFP-RAB-5, which is recruited at early phagosome maturation stages, decreased significantly in bec-1(ok700) mutants (Figure 1G). Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
          Authors found that phagosomal association of GFP-RAB-7, which is recruited at late phagosome maturation stages, decreased significantly in bec-1(ok700) mutants (Figure 1H). Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
          Phagosomal labeling by the lysosomal membrane protein LAAT-1 was reduced in bec-1(ok700) mutants (Figure 1I). Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: GFP-RAB-5 Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
            GFP-RAB-7 Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
            LAAT-1-mCHERRY Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
      WBPhenotype:0002059 Paper_evidence: WBPaper00050468
        Curator_confirmed: WBPerson11549
        Remark: Hypersensitive to Cry5B in life span (Fig. 2A) Paper_evidence: WBPaper00050468
            Curator_confirmed: WBPerson11549
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00050468
              Curator_confirmed: WBPerson11549
      WBPhenotype:0002349 Paper_evidence: WBPaper00044390
        Curator_confirmed: WBPerson2987
        Remark: Authors found significantly reduced YFP-2xFYVE labeling of cell corpses in bec-1(ok700) mutants, suggesting that phosphatidylinositol 3-phosphate (PtdIns3P) generation and/or accumulation on phagosomes is affected (Figure 2A, B). Paper_evidence: WBPaper00044390
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: YFP-2xFYVE, a marker for phosphatidylinositol 3-phosphate Paper_evidence: WBPaper00044390
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000706 Paper_evidence: WBPaper00025094
        Curator_confirmed: WBPerson2021
        Remark: Mutations did not result in Glo phenotypes Paper_evidence: WBPaper00025094
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00025094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Staining with LysoTracker Red and acridine orange Paper_evidence: WBPaper00025094
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00025094
    WBPaper00044390
    WBPaper00050468
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele