WormBase Tree Display for Variation: WBVar00252031

WBVar00252031 Name: Public_name: tm3316
    Other_name: CE01312:p.Gly170ValfsTer71
      F54E7.1a.1:c.509_804del
      CE40069:p.Gly53ValfsTer71
      F54E7.1b.1:c.158_453del
    HGVSg: CHROMOSOME_III:g.5681627_5681922del
  Sequence_details: SMap: S_parent: Sequence: F54E7
    Flanking_sequences: taaaaaattaattaaatattttatttccag tatctcggtgtcaacgttgtgctcactcat
    Mapping_target: F54E7
    Source_location: 7 CHROMOSOME_III 5681626 5681923 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm3316_external
      tm3316_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 3316
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00018827
    Transcript: F54E7.1b.1 VEP_consequence: frameshift_variant,splice_region_variant
        VEP_impact: HIGH
        HGVSc: F54E7.1b.1:c.158_453del
        HGVSp: CE40069:p.Gly53ValfsTer71
        cDNA_position: 158-453
        CDS_position: 158-453
        Protein_position: 53-151
        Exon_number: 2/2
        Codon_change: gGAATTATCATGTTCACATTGGCCGATAATAAAGTATCCCCAAATTTCGATTCTCGAGGATACATCATGATTTGTGGAGCTCTTCTGGCAGATGCTGTAATTGGAAATATTCAAGAAAAGAATATGAAGAAGTACGGTGGATCTAGTAATGAAATGGTTCTCTACTCATATGGAATTGGCTCAGTGTTCATTTTCGCATTTGTCGTGCTCTCCGGTGAAGTCTTCAGTGCAATTCCATTTTTCCTGGAGAACTCGTGGAAAACATTCGGCTACGCACTGATCCTCTCATGTCTTGGA/g
        Amino_acid_change: GIIMFTLADNKVSPNFDSRGYIMICGALLADAVIGNIQEKNMKKYGGSSNEMVLYSYGIGSVFIFAFVVLSGEVFSAIPFFLENSWKTFGYALILSCLG/X
      F54E7.1a.1 VEP_consequence: frameshift_variant,splice_region_variant
        VEP_impact: HIGH
        HGVSc: F54E7.1a.1:c.509_804del
        HGVSp: CE01312:p.Gly170ValfsTer71
        cDNA_position: 574-869
        CDS_position: 509-804
        Protein_position: 170-268
        Exon_number: 6/7
        Codon_change: gGAATTATCATGTTCACATTGGCCGATAATAAAGTATCCCCAAATTTCGATTCTCGAGGATACATCATGATTTGTGGAGCTCTTCTGGCAGATGCTGTAATTGGAAATATTCAAGAAAAGAATATGAAGAAGTACGGTGGATCTAGTAATGAAATGGTTCTCTACTCATATGGAATTGGCTCAGTGTTCATTTTCGCATTTGTCGTGCTCTCCGGTGAAGTCTTCAGTGCAATTCCATTTTTCCTGGAGAACTCGTGGAAAACATTCGGCTACGCACTGATCCTCTCATGTCTTGGA/g
        Amino_acid_change: GIIMFTLADNKVSPNFDSRGYIMICGALLADAVIGNIQEKNMKKYGGSSNEMVLYSYGIGSVFIFAFVVLSGEVFSAIPFFLENSWKTFGYALILSCLG/X
    Interactor: WBInteraction000500894
      WBInteraction000500895
  Isolation: Mutagen: TMP/UV
  Genetics: Map: III
  Description: Phenotype: WBPhenotype:0001698 Paper_evidence: WBPaper00036358
        Curator_confirmed: WBPerson712
        Remark: HS disaccharide analysis revealed that the number of nonsulfated units increased, and the number of sulfated units decreased. The levels of trisulfated disaccharide units (HexA(2S)1-4GlcN(NS,6S)) were not affected in the pst-2 mutants; however, the levels of HexA1-4GlcNAc(6S) were reduced. Paper_evidence: WBPaper00036358
            Curator_confirmed: WBPerson712
    Phenotype_not_observed (16)
  Reference: WBPaper00036358
  Remark: 27943/27944-28239/28240 (296 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