WormBase Tree Display for Variation: WBVar00251138

WBVar00251138 Name: Public_name: tm2211
    Other_name: Y48G1C.4b.1:c.148+288_332del
      Y48G1C.4a.1:c.547+288_731del
    HGVSg: CHROMOSOME_I:g.52860_53502del
  Sequence_details: SMap: S_parent: Sequence: Y48G1C
    Flanking_sequences: tcggtatacacgctcaaaaaatcaaaaaat ttaccccgttttacaaatggggcttttggg
    Mapping_target: Y48G1C
    Source_location: 7 CHROMOSOME_I 52859 53503 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2211_external
      tm2211_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2211
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00021677
    Transcript: Y48G1C.4b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y48G1C.4b.1:c.148+288_332del
        cDNA_position: ?-332
        CDS_position: ?-332
        Protein_position: ?-111
        Intron_number: 2-3/4
        Exon_number: 3-4/5
      Y48G1C.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: Y48G1C.4a.1:c.547+288_731del
        cDNA_position: ?-731
        CDS_position: ?-731
        Protein_position: ?-244
        Intron_number: 4-5/7
        Exon_number: 5-6/8
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
  Description: Phenotype: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
            Laboratory_evidence: FX
      WBPhenotype:0000684 Paper_evidence: WBPaper00040537
        Curator_confirmed: WBPerson557
        Remark: Germ cell divisions occurred infrequently, and the number of germ cells was decreased. Paper_evidence: WBPaper00040537
            Curator_confirmed: WBPerson557
      WBPhenotype:0000688 Paper_evidence: WBPaper00040537
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
          WBPerson8897
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Comment from Dr. M. Sundaram to the National Bioresource Project of Japan: sterile. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
            Laboratory_evidence: FX
      WBPhenotype:0001401 Paper_evidence: WBPaper00040537
        Curator_confirmed: WBPerson557
        Remark: In pgs-1(tm2211) mutants there were several elongated cristae structures in the mitochondrial matrix of germ cells. Paper_evidence: WBPaper00040537
            Curator_confirmed: WBPerson557
      WBPhenotype:0001893 Paper_evidence: WBPaper00040537
        Curator_confirmed: WBPerson557
        Remark: In pgs-1(tm2211) mutants there was reduced mitochondrial membrane potential in germ cells. Paper_evidence: WBPaper00040537
            Curator_confirmed: WBPerson557
    Phenotype_not_observed: WBPhenotype:0001272 Paper_evidence: WBPaper00040537
        Curator_confirmed: WBPerson557
      WBPhenotype:0001887 Paper_evidence: WBPaper00040537
        Curator_confirmed: WBPerson557
      WBPhenotype:0001923 Paper_evidence: WBPaper00040537
        Curator_confirmed: WBPerson557
  Reference: WBPaper00040537
  Remark: 5370/5371-6013/6014 (643 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