WormBase Tree Display for Variation: WBVar00249393

WBVar00249393 Name: Public_name: tm345
    Other_name: C07G1.5.3:c.623_1314delinsAAACTT
      CE32574:p.Val208GlufsTer8
      C07G1.5.1:c.623_1314delinsAAACTT
      C07G1.5.2:c.623_1314delinsAAACTT
    HGVSg: CHROMOSOME_IV:g.8203228_8203919delinsAAGTTT
  Sequence_details: SMap: S_parent: Sequence: C07G1
    Flanking_sequences: atgagaatggagttcagtaagtttcgtgaa cacgaacttctttttcaattccgaattgtg
    Mapping_target: C07G1
    Source_location: 7 CHROMOSOME_IV 8203227 8203920 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Insertion: AAGTTT
      Deletion
    PCR_product: tm345_external
      tm345_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 345
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00004101
    Transcript: C07G1.5.2 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C07G1.5.2:c.623_1314delinsAAACTT
        HGVSp: CE32574:p.Val208GlufsTer8
        cDNA_position: 679-1370
        CDS_position: 623-1314
        Protein_position: 208-438
        Exon_number: 6/10
        Codon_change: gTTTGTGAAACATGTTACGAGAAGAAAGTCGCTGAAGTCAAGGAGAGGTATCCTGCAGTTAAAAAGCAATTAGATGCTGCACATGGAAGAAAAGGTGATTCAGAAGCTGATAAAGCTGCGAAAGAGAAACTTTTGAGAGAAAAAGAAGAGGAAGATCTTGCTCTAGCAATAGCTATCAGTCAAAGTGAAGCAGAAGCAAAAGAAAAGGAGAAACAGAATAATTTATATTCAATGTATAATGGAATCAAGCCAGAAGTCGATGGATACAAAGGAGCAGCTGAACCTGTTACAGCTCCACCACCAGATGACTCGTCTTCTGATCCACTTGCCAGATACTTGAACAGAGACTATTGGCAGCAGAAAAAAGAAGGAAAAGTGGAGGATTGGTCATCCAGATCTTCTGCTCTATCTGCTACTGCACCACCACCTTCCGAACCTTCGATTGCTCCATCCATTTGTTCAACTCTTATGGGTCCTGATGATAATTCATTGAATGCTGATATTGCTGCAATGTCTTTGGGTGGTACTAATGGACTTAATGGAACAGTTAGTGATGATGCGAAATTGCAAGCAGATGATACAATGAAGTGGTGTCAATCAATTCGAGAACAAGTTTCAGTCATGGACAATAGAATTCGATCGAATCTTGCCAGAGGTCGCCCTGTATTCAATGATTCTGCTATTCAAGATCTA/gAAACTT
        Amino_acid_change: VCETCYEKKVAEVKERYPAVKKQLDAAHGRKGDSEADKAAKEKLLREKEEEDLALAIAISQSEAEAKEKEKQNNLYSMYNGIKPEVDGYKGAAEPVTAPPPDDSSSDPLARYLNRDYWQQKKEGKVEDWSSRSSALSATAPPPSEPSIAPSICSTLMGPDDNSLNADIAAMSLGGTNGLNGTVSDDAKLQADDTMKWCQSIREQVSVMDNRIRSNLARGRPVFNDSAIQDL/ETX
      C07G1.5.3 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C07G1.5.3:c.623_1314delinsAAACTT
        HGVSp: CE32574:p.Val208GlufsTer8
        cDNA_position: 764-1455
        CDS_position: 623-1314
        Protein_position: 208-438
        Exon_number: 6/10
        Codon_change: gTTTGTGAAACATGTTACGAGAAGAAAGTCGCTGAAGTCAAGGAGAGGTATCCTGCAGTTAAAAAGCAATTAGATGCTGCACATGGAAGAAAAGGTGATTCAGAAGCTGATAAAGCTGCGAAAGAGAAACTTTTGAGAGAAAAAGAAGAGGAAGATCTTGCTCTAGCAATAGCTATCAGTCAAAGTGAAGCAGAAGCAAAAGAAAAGGAGAAACAGAATAATTTATATTCAATGTATAATGGAATCAAGCCAGAAGTCGATGGATACAAAGGAGCAGCTGAACCTGTTACAGCTCCACCACCAGATGACTCGTCTTCTGATCCACTTGCCAGATACTTGAACAGAGACTATTGGCAGCAGAAAAAAGAAGGAAAAGTGGAGGATTGGTCATCCAGATCTTCTGCTCTATCTGCTACTGCACCACCACCTTCCGAACCTTCGATTGCTCCATCCATTTGTTCAACTCTTATGGGTCCTGATGATAATTCATTGAATGCTGATATTGCTGCAATGTCTTTGGGTGGTACTAATGGACTTAATGGAACAGTTAGTGATGATGCGAAATTGCAAGCAGATGATACAATGAAGTGGTGTCAATCAATTCGAGAACAAGTTTCAGTCATGGACAATAGAATTCGATCGAATCTTGCCAGAGGTCGCCCTGTATTCAATGATTCTGCTATTCAAGATCTA/gAAACTT
        Amino_acid_change: VCETCYEKKVAEVKERYPAVKKQLDAAHGRKGDSEADKAAKEKLLREKEEEDLALAIAISQSEAEAKEKEKQNNLYSMYNGIKPEVDGYKGAAEPVTAPPPDDSSSDPLARYLNRDYWQQKKEGKVEDWSSRSSALSATAPPPSEPSIAPSICSTLMGPDDNSLNADIAAMSLGGTNGLNGTVSDDAKLQADDTMKWCQSIREQVSVMDNRIRSNLARGRPVFNDSAIQDL/ETX
      C07G1.5.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C07G1.5.1:c.623_1314delinsAAACTT
        HGVSp: CE32574:p.Val208GlufsTer8
        cDNA_position: 632-1323
        CDS_position: 623-1314
        Protein_position: 208-438
        Exon_number: 5/9
        Codon_change: gTTTGTGAAACATGTTACGAGAAGAAAGTCGCTGAAGTCAAGGAGAGGTATCCTGCAGTTAAAAAGCAATTAGATGCTGCACATGGAAGAAAAGGTGATTCAGAAGCTGATAAAGCTGCGAAAGAGAAACTTTTGAGAGAAAAAGAAGAGGAAGATCTTGCTCTAGCAATAGCTATCAGTCAAAGTGAAGCAGAAGCAAAAGAAAAGGAGAAACAGAATAATTTATATTCAATGTATAATGGAATCAAGCCAGAAGTCGATGGATACAAAGGAGCAGCTGAACCTGTTACAGCTCCACCACCAGATGACTCGTCTTCTGATCCACTTGCCAGATACTTGAACAGAGACTATTGGCAGCAGAAAAAAGAAGGAAAAGTGGAGGATTGGTCATCCAGATCTTCTGCTCTATCTGCTACTGCACCACCACCTTCCGAACCTTCGATTGCTCCATCCATTTGTTCAACTCTTATGGGTCCTGATGATAATTCATTGAATGCTGATATTGCTGCAATGTCTTTGGGTGGTACTAATGGACTTAATGGAACAGTTAGTGATGATGCGAAATTGCAAGCAGATGATACAATGAAGTGGTGTCAATCAATTCGAGAACAAGTTTCAGTCATGGACAATAGAATTCGATCGAATCTTGCCAGAGGTCGCCCTGTATTCAATGATTCTGCTATTCAAGATCTA/gAAACTT
        Amino_acid_change: VCETCYEKKVAEVKERYPAVKKQLDAAHGRKGDSEADKAAKEKLLREKEEEDLALAIAISQSEAEAKEKEKQNNLYSMYNGIKPEVDGYKGAAEPVTAPPPDDSSSDPLARYLNRDYWQQKKEGKVEDWSSRSSALSATAPPPSEPSIAPSICSTLMGPDDNSLNADIAAMSLGGTNGLNGTVSDDAKLQADDTMKWCQSIREQVSVMDNRIRSNLARGRPVFNDSAIQDL/ETX
  Isolation: Mutagen: TMP/UV
  Genetics: Map: IV
    Mapping_data: In_multi_point: 4600
  Description: Phenotype: WBPhenotype:0000054 Paper_evidence: WBPaper00026641
        Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00026641
          Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00026641
            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
      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
  Reference: WBPaper00026641
  Remark: 33446/33447-AAGTTT-34138/34139 (692 bp deletion + 6 bp insertion)
    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