WormBase Tree Display for Variation: WBVar00249417

WBVar00249417 Name: Public_name: tm369
    Other_name: F48F7.1a.2:c.2017+15_2781del
      F48F7.1a.3:c.2017+15_2781del
      F48F7.1b.1:c.2080+15_2844del
      F48F7.1a.1:c.2017+15_2781del
    HGVSg: CHROMOSOME_X:g.13953623_13954427del
  Sequence_details: SMap: S_parent: Sequence: F48F7
    Flanking_sequences: aaaactccagtttatggtatgtaatttgtt caaatgtgccatacctacgtcagatgcaca
    Mapping_target: F48F7
    Source_location: 7 CHROMOSOME_X 13953622 13954428 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm369_external
      tm369_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 369
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00000105
    Transcript: F48F7.1b.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F48F7.1b.1:c.2080+15_2844del
        cDNA_position: ?-2844
        CDS_position: ?-2844
        Protein_position: ?-948
        Intron_number: 5/6
        Exon_number: 6/7
      F48F7.1a.2 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F48F7.1a.2:c.2017+15_2781del
        cDNA_position: ?-3223
        CDS_position: ?-2781
        Protein_position: ?-927
        Intron_number: 6/8
        Exon_number: 7/9
      F48F7.1a.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F48F7.1a.1:c.2017+15_2781del
        cDNA_position: ?-2810
        CDS_position: ?-2781
        Protein_position: ?-927
        Intron_number: 5/7
        Exon_number: 6/8
      F48F7.1a.3 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F48F7.1a.3:c.2017+15_2781del
        cDNA_position: ?-4501
        CDS_position: ?-2781
        Protein_position: ?-927
        Intron_number: 5/7
        Exon_number: 6/8
  Isolation: Mutagen: TMP/UV
  Genetics: Map: X
  Description: Phenotype: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Comments to the NBP from Dr. R.H. Horvitz: some die; Dr. C. Mello, Cell 127, 747-457 (2006). Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: MT
      WBPhenotype:0000646 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. R.H. Horvitz to the National Bioresource Project of Japan: sluggish. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: MT
      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
    Phenotype_not_observed: WBPhenotype:0000181 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. O. Hobert to the National Bioresource Project of Japan: no effect on DA, DB projection patterns. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: WM
        Penetrance: Incomplete: Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005278 PATO:0000460 Person_evidence: WBPerson7743
                Curator_confirmed: WBPerson712
            WBbt:0005274 PATO:0000460 Person_evidence: WBPerson7743
                Curator_confirmed: WBPerson712
  Remark: 2131/2132-2936/2937 (805 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