WormBase Tree Display for Variation: WBVar00251666

WBVar00251666 Name: Public_name: tm2842
    Other_name: C47D12.8.2:c.599_941del
      CE24855:p.Met201CysfsTer8
      C47D12.8.1:c.599_941del
    HGVSg: CHROMOSOME_II:g.11696824_11697166del
  Sequence_details: SMap: S_parent: Sequence: C47D12
    Flanking_sequences: tcgatcgtctatacattcgccacgtggagc tgtgctgtcaaggcttcaagttttgaaaaa
    Mapping_target: C47D12
    Source_location: 7 CHROMOSOME_II 11696823 11697167 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2842_external
      tm2842_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034668
      WBStrain00034682
      WBStrain00034683
      WBStrain00034697
      WBStrain00034698
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2842
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00008140
    Transcript: C47D12.8.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C47D12.8.1:c.599_941del
        HGVSp: CE24855:p.Met201CysfsTer8
        cDNA_position: 599-941
        CDS_position: 599-941
        Protein_position: 200-314
        Exon_number: 2/13
        Codon_change: cTTATGCCACGATTCTCGAGCATCATCGAATCAGAGCTTAATCGATATCAATTGAAGACTGCAATTTTCTCGGTAGACGTCCCAACACCTCTCCGTCGAGTCCATAGAACTATTATCGAGTTTATTAAAGTTTGCGTCCGAGATTTGAGAACTTGTTCTACTTCTGGAAAACAAACCGATGAACAGAATGAAGAAATGATTCATGTTCCATGGGCAGCGACTCGACTGGAAAAACGGCTTCATGATCGACGTGGTCATATTTCTGAAAAACAGCAGCGTCTTCTCAATGATGTAGCGTCACTTCGCGAAATTCTTCAACTTTCTGAAAATATGGACGTAGCTACt/ct
        Amino_acid_change: LMPRFSSIIESELNRYQLKTAIFSVDVPTPLRRVHRTIIEFIKVCVRDLRTCSTSGKQTDEQNEEMIHVPWAATRLEKRLHDRRGHISEKQQRLLNDVASLREILQLSENMDVAT/X
      C47D12.8.2 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C47D12.8.2:c.599_941del
        HGVSp: CE24855:p.Met201CysfsTer8
        cDNA_position: 599-941
        CDS_position: 599-941
        Protein_position: 200-314
        Exon_number: 2/13
        Codon_change: cTTATGCCACGATTCTCGAGCATCATCGAATCAGAGCTTAATCGATATCAATTGAAGACTGCAATTTTCTCGGTAGACGTCCCAACACCTCTCCGTCGAGTCCATAGAACTATTATCGAGTTTATTAAAGTTTGCGTCCGAGATTTGAGAACTTGTTCTACTTCTGGAAAACAAACCGATGAACAGAATGAAGAAATGATTCATGTTCCATGGGCAGCGACTCGACTGGAAAAACGGCTTCATGATCGACGTGGTCATATTTCTGAAAAACAGCAGCGTCTTCTCAATGATGTAGCGTCACTTCGCGAAATTCTTCAACTTTCTGAAAATATGGACGTAGCTACt/ct
        Amino_acid_change: LMPRFSSIIESELNRYQLKTAIFSVDVPTPLRRVHRTIIEFIKVCVRDLRTCSTSGKQTDEQNEEMIHVPWAATRLEKRLHDRRGHISEKQQRLLNDVASLREILQLSENMDVAT/X
  Isolation: Mutagen: TMP/UV
  Genetics: Map: II
  Description: Phenotype: WBPhenotype:0000030 Paper_evidence: WBPaper00044163
        Curator_confirmed: WBPerson1684
      WBPhenotype:0000050 Paper_evidence: WBPaper00044163
        Curator_confirmed: WBPerson1684
      WBPhenotype:0000275 Paper_evidence: WBPaper00060873
        Curator_confirmed: WBPerson1684
      WBPhenotype:0001938 Paper_evidence: WBPaper00044163
        Curator_confirmed: WBPerson1684
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
  Disease_info: Models_disease: DOID:0050427
    Models_disease_in_annotation: WBDOannot00001184
  Reference: WBPaper00044163
    WBPaper00060873
  Remark: 41906/41907-42249/42250 (343 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