WormBase Tree Display for Variation: WBVar00250777

WBVar00250777 Name: Public_name: tm1813
    Other_name: CE38977:p.Pro86ArgfsTer4
      T07G12.6a.1:c.257_737del
      CE42593:p.Pro86ArgfsTer4
      T07G12.6b.1:c.257_737del
    HGVSg: CHROMOSOME_IV:g.10547412_10547892del
  Sequence_details: SMap: S_parent: Sequence: T07G12
    Flanking_sequences: ccactaagtacaactctggccactaacaagcttcctcgattttcaactc gagacgtttgagtactctgagtagtctcaaggaaactgtcaaag
    Mapping_target: T07G12
    Source_location: 7 CHROMOSOME_IV 10547411 10547893 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm1813_external
      tm1813_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004046
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 1813
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00011597
      WBGene00305591
      WBGene00305592
    Transcript: T07G12.6a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: T07G12.6a.1:c.257_737del
        HGVSp: CE38977:p.Pro86ArgfsTer4
        cDNA_position: 257-737
        CDS_position: 257-737
        Protein_position: 86-246
        Exon_number: 2/9
        Codon_change: cCTGCTATCGGCCATTCAAATAATAATTCCAGTAAAAATTTCACATTGAATTTGGCTGAGAAGCTCTCAGAGATACTATCGGATGACGATAAAACTGATGAATTCCTGGAGAACTCTCATCAATCCGAAACTTCGAAGGACGACGTGATTAAAGATTTGCTCGAAGAAATGGTACAAACGGTTGCCAATTCTAATAAACCTCCGATTCTTTTGAGCACAACTCTCGCAAATGTTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACAACATGCATTGAATCGAGATTTCACGATGAACATGACAGAAATGATTTCCGAAATCGATTCGAATTATGAAGGTTATGAATTATTCGACGATTCCTCCAATGACTGTACCACCTTGACCCCCAACTGCCAGGAGGTCGAATCGTCATTTTATCGAGCACTTTCTGAAGCAGCTAGTTCCATTGTTCCATATCAGGAAGGAAAGAGAAGAAGCTCg/cg
        Amino_acid_change: PAIGHSNNNSSKNFTLNLAEKLSEILSDDDKTDEFLENSHQSETSKDDVIKDLLEEMVQTVANSNKPPILLSTTLANVGVPRFSTPIKPQHALNRDFTMNMTEMISEIDSNYEGYELFDDSSNDCTTLTPNCQEVESSFYRALSEAASSIVPYQEGKRRSS/X
      T07G12.20
      T07G12.21
      T07G12.6b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: T07G12.6b.1:c.257_737del
        HGVSp: CE42593:p.Pro86ArgfsTer4
        cDNA_position: 259-739
        CDS_position: 257-737
        Protein_position: 86-246
        Exon_number: 3/10
        Codon_change: cCTGCTATCGGCCATTCAAATAATAATTCCAGTAAAAATTTCACATTGAATTTGGCTGAGAAGCTCTCAGAGATACTATCGGATGACGATAAAACTGATGAATTCCTGGAGAACTCTCATCAATCCGAAACTTCGAAGGACGACGTGATTAAAGATTTGCTCGAAGAAATGGTACAAACGGTTGCCAATTCTAATAAACCTCCGATTCTTTTGAGCACAACTCTCGCAAATGTTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACAACATGCATTGAATCGAGATTTCACGATGAACATGACAGAAATGATTTCCGAAATCGATTCGAATTATGAAGGTTATGAATTATTCGACGATTCCTCCAATGACTGTACCACCTTGACCCCCAACTGCCAGGAGGTCGAATCGTCATTTTATCGAGCACTTTCTGAAGCAGCTAGTTCCATTGTTCCATATCAGGAAGGAAAGAGAAGAAGCTCg/cg
        Amino_acid_change: PAIGHSNNNSSKNFTLNLAEKLSEILSDDDKTDEFLENSHQSETSKDDVIKDLLEEMVQTVANSNKPPILLSTTLANVGVPRFSTPIKPQHALNRDFTMNMTEMISEIDSNYEGYELFDDSSNDCTTLTPNCQEVESSFYRALSEAASSIVPYQEGKRRSS/X
  Isolation: Mutagen: TMP/UV
  Genetics: Map: IV
    Mapping_data: In_multi_point: 5421
  Description: Phenotype: WBPhenotype:0000052 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. A. Dernburg to the National Bioresource Project of Japan: homozygotes are healthy and fertile, but produce about 70% inviable embryos. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson712
          Range: 70 70 Person_evidence: WBPerson7743
                Curator_confirmed: WBPerson712
      WBPhenotype:0000206 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. A. Dernburg to the National Bioresource Project of Japan: homozygotes are healthy and fertile, but produce about 70% inviable embryos and 6.7% male progeny. These are due to a failure of in pairing and synapsis of chromosome II and III during meiosis. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      WBPhenotype:0000436 Paper_evidence: WBPaper00032296
        Curator_confirmed: WBPerson712
        Remark: Most nuclei (65%) showed four ZHP-3-GFP foci, but 17% and 16% of nuclei contained five and six ZHP-3-GFP foci, respectively. Paper_evidence: WBPaper00032296
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00032296
              Curator_confirmed: WBPerson712
          Genotype: Ppie-1::zhp-3::gfp Paper_evidence: WBPaper00032296
              Curator_confirmed: WBPerson712
      WBPhenotype:0001175 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment from Dr. A. Dernburg to the National Bioresource Project of Japan: homozygotes produce about 6.7% male progeny. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson712
          Range: 7 7 Person_evidence: WBPerson7743
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Comment to the NBP from Dr. A. Dernburg: Dev. Cell 11, 817 (2006); Dr. W. Hanna-Rose: Genetics 177, 1221 (2007). Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
  Reference: WBPaper00032296
    WBPaper00064969
  Remark: 18979/18980-19460/19461 (481 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