WormBase Tree Display for Variation: WBVar00250123

WBVar00250123 Name: Public_name: tm1106
    Other_name: C45E1.1a.2:c.553_861+65del
      C45E1.1b.1:c.478_786+65del
      C45E1.1a.1:c.553_861+65del
      C45E1.1c.1:c.571_879+65del
    HGVSg: CHROMOSOME_I:g.3107991_3108788del
  Sequence_details: SMap: S_parent: Sequence: C45E1
    Flanking_sequences: GTTTTGGAAGGATTTCAGAGAGTTGATAAT GAAATAATATTGATCATAAGTTTCATGTCA
    Mapping_target: C45E1
    Type_of_mutation: Deletion
    PCR_product: tm1106_external
      tm1106_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 1106
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00003654
    Transcript: C45E1.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C45E1.1b.1:c.478_786+65del
        cDNA_position: 478-?
        CDS_position: 478-?
        Protein_position: 160-?
        Intron_number: 3-6/6
        Exon_number: 3-6/7
      C45E1.1c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C45E1.1c.1:c.571_879+65del
        cDNA_position: 571-?
        CDS_position: 571-?
        Protein_position: 191-?
        Intron_number: 5-8/8
        Exon_number: 5-8/9
      C45E1.1a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C45E1.1a.2:c.553_861+65del
        cDNA_position: 703-?
        CDS_position: 553-?
        Protein_position: 185-?
        Intron_number: 6-9/10
        Exon_number: 6-9/11
      C45E1.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C45E1.1a.1:c.553_861+65del
        cDNA_position: 558-?
        CDS_position: 553-?
        Protein_position: 185-?
        Intron_number: 5-8/9
        Exon_number: 5-8/10
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
  Description: Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
            Laboratory_evidence: FX
      WBPhenotype:0000306 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Remark: Comment from Dr. M. Barr to the National Bioresource Project of Japan: PKD-2::GFP expression=WT. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
  Remark: 12992/12993-13790/13791 (798 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. PMID 23173093 Paper_evidence: WBPaper00041807
  Method: NBP_knockout_allele