WormBase Tree Display for Variation: WBVar00251013

WBVar00251013 Name: Public_name: tm2068
    Other_name: D1014.3b.2:c.481_*418del
      D1014.3b.1:c.481_*418del
      D1014.3b.3:c.481_*467del
      D1014.3a.1:c.135+346_453del
    HGVSg: CHROMOSOME_V:g.8131309_8132066del
  Sequence_details: SMap: S_parent: Sequence: D1014
    Flanking_sequences: caagtttctcgtgagcctggaattaatcat aaaggagaagaacagaaaagtagtgccagc
    Mapping_target: D1014
    Source_location: 7 CHROMOSOME_V 8131308 8132067 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2068_external
      tm2068_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2068
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00017016
    Transcript: D1014.3b.3 VEP_consequence: stop_lost,3_prime_UTR_variant
        VEP_impact: HIGH
        HGVSc: D1014.3b.3:c.481_*467del
        cDNA_position: 490-1247
        CDS_position: 481-?
        Protein_position: 161-?
        Exon_number: 3-4/5
      D1014.3b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,stop_lost,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: D1014.3b.1:c.481_*418del
        cDNA_position: 490-1198
        CDS_position: 481-?
        Protein_position: 161-?
        Intron_number: 4/6
        Exon_number: 3-5/7
      D1014.3a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: D1014.3a.1:c.135+346_453del
        cDNA_position: ?-456
        CDS_position: ?-453
        Protein_position: ?-151
        Intron_number: 3-4/7
        Exon_number: 4-5/8
      D1014.3b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,stop_lost,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: D1014.3b.2:c.481_*418del
        cDNA_position: 490-1198
        CDS_position: 481-?
        Protein_position: 161-?
        Intron_number: 4/5
        Exon_number: 3-5/6
  Isolation: Mutagen: TMP/UV
  Genetics: Map: V
  Description: Phenotype: WBPhenotype:0000057 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. M. Nonet to the National Bioresource Project of Japan: L1/L2 larval lethal. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      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:0000643 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. M. Nonet to the National Bioresource Project of Japan: slightly Unc at hatching and become more Unc over time. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      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
  Remark: 13100/13101-13858/13859 (758 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