WormBase Tree Display for Variation: WBVar00091466

WBVar00091466 Evidence: Paper_evidence: WBPaper00005546
  Name: Public_name: ok84
    Other_name: W04D2.1c.1:c.735+42_1741del
      W04D2.1b.1:c.870+42_1876del
      W04D2.1a.1:c.948+42_1954del
      W04D2.1d.1:c.657+42_1663del
    HGVSg: CHROMOSOME_V:g.12481418_12482544del
  Sequence_details: SMap: S_parent: Sequence: W04D2
    Flanking_sequences: TGTAGTTTTTGTATATCGTTTACTAAAATTTACTT CCGAGTTGAAGAGACAGCAAAGTGAGTCTTAGAAC
    Mapping_target: W04D2
    Type_of_mutation: Deletion
    PCR_product: ok84_external
      ok84_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00032503
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00000228
    Transcript: W04D2.1b.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: W04D2.1b.1:c.870+42_1876del
        cDNA_position: ?-1881
        CDS_position: ?-1876
        Protein_position: ?-626
        Intron_number: 6/10
        Exon_number: 7/11
      W04D2.1d.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: W04D2.1d.1:c.657+42_1663del
        cDNA_position: ?-1663
        CDS_position: ?-1663
        Protein_position: ?-555
        Intron_number: 4/7
        Exon_number: 5/8
      W04D2.1c.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: W04D2.1c.1:c.735+42_1741del
        cDNA_position: ?-1741
        CDS_position: ?-1741
        Protein_position: ?-581
        Intron_number: 4/7
        Exon_number: 5/8
      W04D2.1a.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: W04D2.1a.1:c.948+42_1954del
        cDNA_position: ?-1957
        CDS_position: ?-1954
        Protein_position: ?-652
        Intron_number: 6/10
        Exon_number: 7/11
    Interactor: WBInteraction000503926
      WBInteraction000504326
      WBInteraction000519776
      WBInteraction000557965
  Description: Phenotype: WBPhenotype:0000424 Paper_evidence: WBPaper00005546
        Curator_confirmed: WBPerson712
        Remark: Pattern of staining is broader that normal with antibody EU102, which was generated against a 352-residue region of (4215-4267) of TTN-1. There is also a loss of the 'dashed' pattern normally seen. Paper_evidence: WBPaper00005546
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00005546
            Curator_confirmed: WBPerson712
      WBPhenotype:0000603 Paper_evidence: WBPaper00005546
        Curator_confirmed: WBPerson712
        Remark: Animals have nearly normal muscle structure as assayed by polarized light. However, there are extra accumulations of actin and the dense bodies are altered in morphology and distribution as seen by EM. (EM observations were conveyed to authors by R. Barstead.) Paper_evidence: WBPaper00005546
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00005546
            Curator_confirmed: WBPerson712
      WBPhenotype:0002587 Paper_evidence: WBPaper00058750
        Curator_confirmed: WBPerson43910
    Phenotype_not_observed: WBPhenotype:0000643 Paper_evidence: WBPaper00005546
        Curator_confirmed: WBPerson712
        Remark: Animals have near normal locomotion. Paper_evidence: WBPaper00005546
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00005546
            Curator_confirmed: WBPerson712
  Reference: WBPaper00005546
    WBPaper00058750
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele