WormBase Tree Display for Variation: WBVar00092734

WBVar00092734 Evidence: Paper_evidence: WBPaper00041203
  Name: Public_name: ok1523
    Other_name: F41G4.2a.1:c.-22_2469del
      F41G4.2b.1:c.118+1598_369del
    HGVSg: CHROMOSOME_X:g.16809210_16811938del
  Sequence_details: SMap: S_parent: Sequence: F41G4
    Flanking_sequences: cgtgtccttgaaattgttgatttcaccaag gagaaataaaattgcaatgcaaaaaaaaaa
    Mapping_target: F41G4
    Type_of_mutation: Deletion
    PCR_product: ok1523_external
      ok1523_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00036361
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00000294
    Transcript: F41G4.2b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F41G4.2b.1:c.118+1598_369del
        cDNA_position: ?-372
        CDS_position: ?-369
        Protein_position: ?-123
        Intron_number: 2-3/8
        Exon_number: 3-4/9
      F41G4.2a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,start_lost,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F41G4.2a.1:c.-22_2469del
        cDNA_position: 771-3261
        CDS_position: ?-2469
        Protein_position: ?-823
        Intron_number: 2-3/8
        Exon_number: 1-4/9
    Interactor: WBInteraction000518632
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0000059 Paper_evidence: WBPaper00041203
        Curator_confirmed: WBPerson712
        Remark: Most homozygotes were arrested at variable larval stages and became immobile. Heterozygotes were indistinguishable from wild-type. Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00041203
          Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
      WBPhenotype:0000436 Paper_evidence: WBPaper00041203
        Curator_confirmed: WBPerson712
        Remark: UNC-60B subcellular localization was significantly altered in muscle; diffuse localization of UNC-60B was diminished, and UNC-60B was concentrated into aggregates where actin was also accumulated. Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00041203
          Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00041203
                Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00041203
        Curator_confirmed: WBPerson712
        Remark: The few escapers became adults but failed to reproduce. Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00041203
          Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
      WBPhenotype:0001587 Paper_evidence: WBPaper00041203
        Curator_confirmed: WBPerson712
        Remark: Phalloidin staining showed that sarcomeric actin filaments in the body wall muscle of arrested larvae and escaper adults were severely disorganized with formation of a number of F-actin aggregates. Abnormalities of actin filament organization were also detected in embryonic muscle. Abnormalities of F-actin organization in other tissues was not detected. Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00041203
          Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00041203
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006804 PATO:0000460 Paper_evidence: WBPaper00041203
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00041203
                Curator_confirmed: WBPerson712
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00041203
                Curator_confirmed: WBPerson712
            WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00041203
                Curator_confirmed: WBPerson712
          GO_term: GO:0005884 PATO:0000937 Paper_evidence: WBPaper00041203
                Curator_confirmed: WBPerson712
            GO:0030017 PATO:0000937 Paper_evidence: WBPaper00041203
                Curator_confirmed: WBPerson712
  Reference: WBPaper00041203
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele