WormBase Tree Display for Variation: WBVar00252614

WBVar00252614 Name: Public_name: tm4059
    Other_name: H23L24.3b.1:c.565+29_860del
      H23L24.3a.1:c.265+29_560del
    HGVSg: CHROMOSOME_IV:g.8700363_8700869del
  Sequence_details: SMap: S_parent: Sequence: H23L24
    Flanking_sequences: aggtaagatgataatacatttttttgaact gatgaatgataaattgaagttcgattttcg
    Mapping_target: H23L24
    Source_location: 7 CHROMOSOME_IV 8700362 8700870 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm4059_external
      tm4059_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00054964
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 4059
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00019230
    Transcript: H23L24.3b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: H23L24.3b.1:c.565+29_860del
        cDNA_position: ?-861
        CDS_position: ?-860
        Protein_position: ?-287
        Intron_number: 5-7/17
        Exon_number: 6-8/18
      H23L24.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: H23L24.3a.1:c.265+29_560del
        cDNA_position: ?-564
        CDS_position: ?-560
        Protein_position: ?-187
        Intron_number: 3-5/15
        Exon_number: 4-6/16
    Interactor: WBInteraction000563338
      WBInteraction000563340
      WBInteraction000563345
      WBInteraction000563346
  Isolation: Mutagen: TMP/UV
  Genetics: Map: IV
  Description: Phenotype: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
      WBPhenotype:0000262 Paper_evidence: WBPaper00053343
        Curator_confirmed: WBPerson3755
        Remark: Fig. 6: in CEM cilia, loss of ttll-11 causes abnormally long doublet microtubule region in the axoneme Paper_evidence: WBPaper00053343
            Curator_confirmed: WBPerson3755
        Penetrance: High: Paper_evidence: WBPaper00053343
              Curator_confirmed: WBPerson3755
        Semi_dominant: Paper_evidence: WBPaper00053343
          Curator_confirmed: WBPerson3755
        Variation_effect: Predicted_null_via_sequence: Paper_evidence: WBPaper00053343
            Curator_confirmed: WBPerson3755
        EQ_annotations: Anatomy_term: WBbt:0005246 PATO:0000460 Paper_evidence: WBPaper00053343
                Curator_confirmed: WBPerson3755
          GO_term: GO:0097545 PATO:0000573 Paper_evidence: WBPaper00053343
                Curator_confirmed: WBPerson3755
        Phenotype_assay: Genotype: myIs1[pkd-2::gfp + Punc-122::gfp] pkd-2(sy606);him-5(e1490) Paper_evidence: WBPaper00053343
              Curator_confirmed: WBPerson3755
      WBPhenotype:0000688 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
      WBPhenotype:0001242 Paper_evidence: WBPaper00053343
        Curator_confirmed: WBPerson3755
        Remark: Table 1: Kinesin-2 and Kinesin-3 velocities in cilia affected by loss of ttll-11 in CEM male specific neurons Paper_evidence: WBPaper00053343
            Curator_confirmed: WBPerson3755
        Penetrance: High: Paper_evidence: WBPaper00053343
              Curator_confirmed: WBPerson3755
        Semi_dominant: Paper_evidence: WBPaper00053343
          Curator_confirmed: WBPerson3755
        Variation_effect: Predicted_null_via_sequence: Paper_evidence: WBPaper00053343
            Curator_confirmed: WBPerson3755
        EQ_annotations: Anatomy_term: WBbt:0005246 PATO:0000460 Paper_evidence: WBPaper00053343
                Curator_confirmed: WBPerson3755
        Phenotype_assay: Genotype: myIs1[pkd-2::gfp + Punc-122::gfp] pkd-2(sy606);him-5(e1490) Paper_evidence: WBPaper00053343
              Curator_confirmed: WBPerson3755
    Phenotype_not_observed: WBPhenotype:0000050 Paper_evidence: WBPaper00050134
        Curator_confirmed: WBPerson10283
      WBPhenotype:0000663 Paper_evidence: WBPaper00050134
        Curator_confirmed: WBPerson10283
      WBPhenotype:0000673 Paper_evidence: WBPaper00050134
        Curator_confirmed: WBPerson10283
      WBPhenotype:0000843 Paper_evidence: WBPaper00050134
        Curator_confirmed: WBPerson10283
      WBPhenotype:0002212 Paper_evidence: WBPaper00050134
        Curator_confirmed: WBPerson10283
  Reference: WBPaper00050134
    WBPaper00053343
  Remark: 8296/8297-8803/8804 (507 bp deletion)
    This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. Paper_evidence: WBPaper00041807
  Method: NBP_knockout_allele