WormBase Tree Display for Variation: WBVar00251117

WBVar00251117 Name: Public_name: tm2182
    Other_name: R12B2.5b.2:c.1170_1647del
      R12B2.5a.1:c.1179_1656del
      R12B2.5b.1:c.1170_1647del
      CE25078:p.His391GlnfsTer3
      R12B2.5a.3:c.1179_1656del
      R12B2.5a.2:c.1179_1656del
      CE30108:p.His394GlnfsTer3
    HGVSg: CHROMOSOME_III:g.5831337_5831814del
  Sequence_details: SMap: S_parent: Sequence: R12B2
    Flanking_sequences: tggcattctcatattgtttctcatcgctgc ctgcattgccttgctcgtgttctcaaactg
    Mapping_target: R12B2
    Source_location: 7 CHROMOSOME_III 5831336 5831815 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2182_external
      tm2182_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00040637
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2182
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00007016
    Transcript: R12B2.5a.2 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R12B2.5a.2:c.1179_1656del
        HGVSp: CE30108:p.His394GlnfsTer3
        cDNA_position: 1449-1926
        CDS_position: 1179-1656
        Protein_position: 393-552
        Exon_number: 6/10
        Codon_change: agACATGAGGGTAACCATGAAGCTGCTCACAAGCTTGAGGTTATGCTCAGTGTGCTCGAAGGAAAACGTGTGGTTAGCCTTGAATACTTGAACCATTTGGAGATGTGGATTGCCAGAAAGCAAGACTTCTTGAATATTGCTCCAATGTCACAGAATCAGAATCATATGGGAATGAACGATCCGATGATGAACGGTGAACATGCTATGTTGGGTAATGGTCAGGTGCCAAATCCCTACGGAGGACATCCAGGTTATGGACATCAGCAGTATATGGGACCTCCACCACCACATATGCAAATGCATCAACCACCAATGTGGCATCAACAGCAACACCAACAGCAGCAACGAATGATGCCACAGGATCATATGATGATGCAGGGTGGAGGTGGTCCAGTTCATGGAATGTATCGTGGAGATATGGGACACGATCCGATGACATCACCAGTCAACAATCATCGTCATGCTCCATACCCGAATCCT/ag
        Amino_acid_change: RHEGNHEAAHKLEVMLSVLEGKRVVSLEYLNHLEMWIARKQDFLNIAPMSQNQNHMGMNDPMMNGEHAMLGNGQVPNPYGGHPGYGHQQYMGPPPPHMQMHQPPMWHQQQHQQQQRMMPQDHMMMQGGGGPVHGMYRGDMGHDPMTSPVNNHRHAPYPNP/X
      R12B2.5b.2 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R12B2.5b.2:c.1170_1647del
        HGVSp: CE25078:p.His391GlnfsTer3
        cDNA_position: 1435-1912
        CDS_position: 1170-1647
        Protein_position: 390-549
        Exon_number: 6/9
        Codon_change: agACATGAGGGTAACCATGAAGCTGCTCACAAGCTTGAGGTTATGCTCAGTGTGCTCGAAGGAAAACGTGTGGTTAGCCTTGAATACTTGAACCATTTGGAGATGTGGATTGCCAGAAAGCAAGACTTCTTGAATATTGCTCCAATGTCACAGAATCAGAATCATATGGGAATGAACGATCCGATGATGAACGGTGAACATGCTATGTTGGGTAATGGTCAGGTGCCAAATCCCTACGGAGGACATCCAGGTTATGGACATCAGCAGTATATGGGACCTCCACCACCACATATGCAAATGCATCAACCACCAATGTGGCATCAACAGCAACACCAACAGCAGCAACGAATGATGCCACAGGATCATATGATGATGCAGGGTGGAGGTGGTCCAGTTCATGGAATGTATCGTGGAGATATGGGACACGATCCGATGACATCACCAGTCAACAATCATCGTCATGCTCCATACCCGAATCCT/ag
        Amino_acid_change: RHEGNHEAAHKLEVMLSVLEGKRVVSLEYLNHLEMWIARKQDFLNIAPMSQNQNHMGMNDPMMNGEHAMLGNGQVPNPYGGHPGYGHQQYMGPPPPHMQMHQPPMWHQQQHQQQQRMMPQDHMMMQGGGGPVHGMYRGDMGHDPMTSPVNNHRHAPYPNP/X
      R12B2.5a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R12B2.5a.1:c.1179_1656del
        HGVSp: CE30108:p.His394GlnfsTer3
        cDNA_position: 1443-1920
        CDS_position: 1179-1656
        Protein_position: 393-552
        Exon_number: 6/9
        Codon_change: agACATGAGGGTAACCATGAAGCTGCTCACAAGCTTGAGGTTATGCTCAGTGTGCTCGAAGGAAAACGTGTGGTTAGCCTTGAATACTTGAACCATTTGGAGATGTGGATTGCCAGAAAGCAAGACTTCTTGAATATTGCTCCAATGTCACAGAATCAGAATCATATGGGAATGAACGATCCGATGATGAACGGTGAACATGCTATGTTGGGTAATGGTCAGGTGCCAAATCCCTACGGAGGACATCCAGGTTATGGACATCAGCAGTATATGGGACCTCCACCACCACATATGCAAATGCATCAACCACCAATGTGGCATCAACAGCAACACCAACAGCAGCAACGAATGATGCCACAGGATCATATGATGATGCAGGGTGGAGGTGGTCCAGTTCATGGAATGTATCGTGGAGATATGGGACACGATCCGATGACATCACCAGTCAACAATCATCGTCATGCTCCATACCCGAATCCT/ag
        Amino_acid_change: RHEGNHEAAHKLEVMLSVLEGKRVVSLEYLNHLEMWIARKQDFLNIAPMSQNQNHMGMNDPMMNGEHAMLGNGQVPNPYGGHPGYGHQQYMGPPPPHMQMHQPPMWHQQQHQQQQRMMPQDHMMMQGGGGPVHGMYRGDMGHDPMTSPVNNHRHAPYPNP/X
      R12B2.5b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R12B2.5b.1:c.1170_1647del
        HGVSp: CE25078:p.His391GlnfsTer3
        cDNA_position: 1434-1911
        CDS_position: 1170-1647
        Protein_position: 390-549
        Exon_number: 6/10
        Codon_change: agACATGAGGGTAACCATGAAGCTGCTCACAAGCTTGAGGTTATGCTCAGTGTGCTCGAAGGAAAACGTGTGGTTAGCCTTGAATACTTGAACCATTTGGAGATGTGGATTGCCAGAAAGCAAGACTTCTTGAATATTGCTCCAATGTCACAGAATCAGAATCATATGGGAATGAACGATCCGATGATGAACGGTGAACATGCTATGTTGGGTAATGGTCAGGTGCCAAATCCCTACGGAGGACATCCAGGTTATGGACATCAGCAGTATATGGGACCTCCACCACCACATATGCAAATGCATCAACCACCAATGTGGCATCAACAGCAACACCAACAGCAGCAACGAATGATGCCACAGGATCATATGATGATGCAGGGTGGAGGTGGTCCAGTTCATGGAATGTATCGTGGAGATATGGGACACGATCCGATGACATCACCAGTCAACAATCATCGTCATGCTCCATACCCGAATCCT/ag
        Amino_acid_change: RHEGNHEAAHKLEVMLSVLEGKRVVSLEYLNHLEMWIARKQDFLNIAPMSQNQNHMGMNDPMMNGEHAMLGNGQVPNPYGGHPGYGHQQYMGPPPPHMQMHQPPMWHQQQHQQQQRMMPQDHMMMQGGGGPVHGMYRGDMGHDPMTSPVNNHRHAPYPNP/X
      R12B2.5a.3 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: R12B2.5a.3:c.1179_1656del
        HGVSp: CE30108:p.His394GlnfsTer3
        cDNA_position: 1406-1883
        CDS_position: 1179-1656
        Protein_position: 393-552
        Exon_number: 6/10
        Codon_change: agACATGAGGGTAACCATGAAGCTGCTCACAAGCTTGAGGTTATGCTCAGTGTGCTCGAAGGAAAACGTGTGGTTAGCCTTGAATACTTGAACCATTTGGAGATGTGGATTGCCAGAAAGCAAGACTTCTTGAATATTGCTCCAATGTCACAGAATCAGAATCATATGGGAATGAACGATCCGATGATGAACGGTGAACATGCTATGTTGGGTAATGGTCAGGTGCCAAATCCCTACGGAGGACATCCAGGTTATGGACATCAGCAGTATATGGGACCTCCACCACCACATATGCAAATGCATCAACCACCAATGTGGCATCAACAGCAACACCAACAGCAGCAACGAATGATGCCACAGGATCATATGATGATGCAGGGTGGAGGTGGTCCAGTTCATGGAATGTATCGTGGAGATATGGGACACGATCCGATGACATCACCAGTCAACAATCATCGTCATGCTCCATACCCGAATCCT/ag
        Amino_acid_change: RHEGNHEAAHKLEVMLSVLEGKRVVSLEYLNHLEMWIARKQDFLNIAPMSQNQNHMGMNDPMMNGEHAMLGNGQVPNPYGGHPGYGHQQYMGPPPPHMQMHQPPMWHQQQHQQQQRMMPQDHMMMQGGGGPVHGMYRGDMGHDPMTSPVNNHRHAPYPNP/X
    Interactor: WBInteraction000521896
      WBInteraction000521957
  Isolation: Mutagen: TMP/UV
  Genetics: Map: III
    Mapping_data: In_multi_point: 5632
  Description: Phenotype (24)
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson48
            Laboratory_evidence: FX
      WBPhenotype:0001405 Paper_evidence: WBPaper00045290
        Curator_confirmed: WBPerson3947
      WBPhenotype:0002434 Paper_evidence: WBPaper00045290
        Curator_confirmed: WBPerson3947
  Reference: WBPaper00031850
    WBPaper00045330
    WBPaper00056290
    WBPaper00044077
    WBPaper00045290
    WBPaper00064979
    WBPaper00065288
  Remark: 29157/29158-29635/29636 (478 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