WormBase Tree Display for Variation: WBVar00250859

WBVar00250859 Name: Public_name: tm1896
    Other_name: T16H5.1a.2:c.440-167_694del
      T16H5.1a.1:c.440-167_694del
      T16H5.1b.1:c.392-167_646del
    HGVSg: CHROMOSOME_I:g.2454714_2455259del
  Sequence_details: SMap: S_parent: Sequence: T16H5
    Flanking_sequences: tacttttgaggcacgcattgagtatcaaaa ctcggaaattcgaatccgcggaatacaaaa
    Mapping_target: T16H5
    Source_location: 7 CHROMOSOME_I 2454713 2455260 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm1896_external
      tm1896_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 1896
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00002141
    Transcript: T16H5.1a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T16H5.1a.2:c.440-167_694del
        cDNA_position: ?-860
        CDS_position: ?-694
        Protein_position: ?-232
        Intron_number: 4-5/8
        Exon_number: 5-6/9
      T16H5.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T16H5.1a.1:c.440-167_694del
        cDNA_position: ?-781
        CDS_position: ?-694
        Protein_position: ?-232
        Intron_number: 3-4/7
        Exon_number: 4-5/8
      T16H5.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: T16H5.1b.1:c.392-167_646del
        cDNA_position: ?-667
        CDS_position: ?-646
        Protein_position: ?-216
        Intron_number: 2-3/6
        Exon_number: 3-4/7
    Interactor: WBInteraction000052098
      WBInteraction000052099
      WBInteraction000052105
      WBInteraction000052106
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
    Mapping_data: In_multi_point: 5249
  Description: Phenotype: WBPhenotype:0000050 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. H. Sawa to the National Bioresource Project of Japan: Some die in embryonic stage (10/100). Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson712
          Range: 10 10 Person_evidence: WBPerson7743
                Curator_confirmed: WBPerson712
      WBPhenotype:0001512 Paper_evidence: WBPaper00029404
        Curator_confirmed: WBPerson712
        Remark: Animals do not express str-2::GFP in either AWC cell, e.g. both AWC neurons are AWC off (n=142). Only rescued by nsy-5 transgenes expressed in AWC. Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
            WBbt:0005832 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
            WBbt:0005833 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000002 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: str-2::GFP Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Comment from Dr. C. Bargmann to the National Bioresource Project of Japan: viable Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      WBPhenotype:0000717 Paper_evidence: WBPaper00029404
        Curator_confirmed: WBPerson712
        Remark: NSY-4::GFP expression was unaltered (data not shown). Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: NSY-4::GFP Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
  Reference: WBPaper00029404
    WBPaper00065804
  Remark: 2908/2909-3454/3455 (546 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