WormBase Tree Display for Variation: WBVar00251072

WBVar00251072 Name: Public_name: tm2133
    Other_name: F56E10.2b.1:c.1288-342_1628del
      F56E10.2a.1:c.1795-342_2135del
      F56E10.2a.2:c.1795-342_2135del
    HGVSg: CHROMOSOME_V:g.66953_67635del
  Sequence_details: SMap: S_parent: Sequence: F56E10
    Flanking_sequences: tgacatgacgacgtggctttcagcacgact ggtaaactaaaagaaaaagatcgacccgag
    Mapping_target: F56E10
    Source_location: 7 CHROMOSOME_V 66952 67636 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2133_external
      tm2133_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2133
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00018976
    Transcript: F56E10.2c.1 VEP_consequence: coding_sequence_variant,5_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: ?-299
        CDS_position: ?-299
        Protein_position: ?-100
        Exon_number: 1/3
      F56E10.2a.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F56E10.2a.1:c.1795-342_2135del
        cDNA_position: ?-2197
        CDS_position: ?-2135
        Protein_position: ?-712
        Intron_number: 10/13
        Exon_number: 11/14
      F56E10.2a.2 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F56E10.2a.2:c.1795-342_2135del
        cDNA_position: ?-2197
        CDS_position: ?-2135
        Protein_position: ?-712
        Intron_number: 10/14
        Exon_number: 11/15
      F56E10.2b.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F56E10.2b.1:c.1288-342_1628del
        cDNA_position: ?-1628
        CDS_position: ?-1628
        Protein_position: ?-543
        Intron_number: 4/6
        Exon_number: 5/7
  Isolation: Mutagen: TMP/UV
  Genetics: Map: V
    Mapping_data: In_multi_point: 5580
  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:0000646 Paper_evidence: WBPaper00041258
        Curator_confirmed: WBPerson3809
        Remark: slow-moving animals. Paper_evidence: WBPaper00041258
            Curator_confirmed: WBPerson3809
      WBPhenotype:0000688 Paper_evidence: WBPaper00041258
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
          WBPerson3809
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
            Laboratory_evidence: FX
          results in sterility Paper_evidence: WBPaper00041258
            Curator_confirmed: WBPerson3809
    Phenotype_not_observed: WBPhenotype:0000031 Paper_evidence: WBPaper00046877
        Curator_confirmed: WBPerson3809
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00046877
                Curator_confirmed: WBPerson3809
      WBPhenotype:0000052 Paper_evidence: WBPaper00046877
        Curator_confirmed: WBPerson3809
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00046877
                Curator_confirmed: WBPerson3809
      WBPhenotype:0000625 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson557
        Remark: Comment from Dr. K. Shen to the National Bioresource Project of Japan: normal synapse formation as determined by RAB-3 and CCB-1 localization to presynaptic sites in HSNL. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson557
      WBPhenotype:0000683 Paper_evidence: WBPaper00046877
        Curator_confirmed: WBPerson3809
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00046877
                Curator_confirmed: WBPerson3809
  Reference: WBPaper00041258
    WBPaper00046877
  Remark: 1430/1431-2113/2114 (683 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