WormBase Tree Display for Variation: WBVar00251643

WBVar00251643 Name: Public_name: tm2815
    Other_name: R06C7.8.1:c.1413_1727del
      CE06251:p.Glu472_Ter576delextTer?
    HGVSg: CHROMOSOME_I:g.7253447_7253850del
  Sequence_details: SMap: S_parent: Sequence: R06C7
    Flanking_sequences: tgggttgaatgttgtttacgatgaggcagc aaatcaagccgttcagccctcagtcacaga
    Mapping_target: R06C7
    Source_location: 7 CHROMOSOME_I 7253446 7253851 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2815_external
      tm2815_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2815
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00000275
    Transcript: R06C7.8.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,stop_lost,inframe_deletion,intron_variant
        VEP_impact: HIGH
        HGVSc: R06C7.8.1:c.1413_1727del
        HGVSp: CE06251:p.Glu472_Ter576delextTer?
        cDNA_position: 1419-1733
        CDS_position: 1413-1727
        Protein_position: 471-576
        Intron_number: 4-5/7
        Exon_number: 4-6/8
        Codon_change: gcCGAACCGGAAGAATCTCAGAAAGTTGAGGAATCTGAAGTACAACCCGAAATTGTCCTAGTTTCTCCAGTGACGCAAACCTCACCAGCTACAATGTTTAATGATAGTGGGTTTATCGAAAAATATAACAACTTATGTTTTAATTTTTAGTTTATGACGATGAAATCGAGTTTGGCTTTTTCAAACCGTCTCGTGGTAATTTCGTCACATCGACCCCCGCACAAGGAGTTCATTTGGTCAACATTGATGAATATTTCGGAAATAAAGAGGAGGAAAGCACTCACGAACAGGAAGCTCCAGTATTTGTTGCTCCAACCAGCAGTACTTTCAGTAAATTAGTAAGTGCCAGACAAATTTTCGACATACTATTCAAACTTTTTCAGACACGTCGAAAGTCACTAGCAGCa/gca
        Amino_acid_change: AEPEESQKVEESEVQPEIVLVSPVTQTSPATMFNDSGFIEKYNNLCFNF*FMTMKSSLAFSNRLVVISSHRPPHKEFIWSTLMNISEIKRRKALTNRKLQYLLLQPAVLSVN**VPDKFSTYYSNFFRHVESH*QX/A
  Isolation: Mutagen: TMP/UV
  Genetics: Map: I
  Description: Phenotype: WBPhenotype:0000016 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment to the NBP from Dr. L. Dreier: paralyzes faster in the presence of aldicarb. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: IY
        Affected_by: Molecule: WBMol:00003650 Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007833 PATO:0001549 Person_evidence: WBPerson7743
                Curator_confirmed: WBPerson712
      WBPhenotype:0000059 Paper_evidence: WBPaper00033465
        Curator_confirmed: WBPerson557
      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
            Laboratory_evidence: FX
      WBPhenotype:0000180 Paper_evidence: WBPaper00033465
        Curator_confirmed: WBPerson557
        Remark: Authors note longitudinal extension defects in axons that were scored as regions that lack GFP-labeled axons. Paper_evidence: WBPaper00033465
            Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: Punc-25::GFP Paper_evidence: WBPaper00033465
              Curator_confirmed: WBPerson557
      WBPhenotype:0000384 Paper_evidence: WBPaper00033465
        Curator_confirmed: WBPerson557
        Remark: Axon guidance defects include premature stop or inappropriate branching of axons. Paper_evidence: WBPaper00033465
            Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: Punc-25::GFP Paper_evidence: WBPaper00033465
              Curator_confirmed: WBPerson557
      WBPhenotype:0000643 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment to the NBP from Dr. L. Dreier: Unc, paralyzes faster in the presence of aldicarb. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: IY
      WBPhenotype:0000679 Paper_evidence: WBPaper00033465
        Curator_confirmed: WBPerson557
        Remark: Authors note longitudinal extension defects in axons that were scored as regions that lack GFP-labeled axons. Paper_evidence: WBPaper00033465
            Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: Punc-25::GFP Paper_evidence: WBPaper00033465
              Curator_confirmed: WBPerson557
      WBPhenotype:0000688 Paper_evidence: WBPaper00033465
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
          WBPerson557
        Remark: Classified as lethal OR sterile by the National Bioresource Project of Japan. Comment to the NBP from Dr. L. Dreier: Ste. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
              IY
      WBPhenotype:0000697 Paper_evidence: WBPaper00033465
        Curator_confirmed: WBPerson557
        Penetrance: Low: Paper_evidence: WBPaper00033465
              Curator_confirmed: WBPerson557
      WBPhenotype:0000698 Paper_evidence: WBPaper00033465
        Curator_confirmed: WBPerson557
      WBPhenotype:0001226 Paper_evidence: WBPaper00033465
        Curator_confirmed: WBPerson557
        Remark: Commissure defect refers to the D-type neuron commissures that extend from left side of the animals. Paper_evidence: WBPaper00033465
            Curator_confirmed: WBPerson557
        Phenotype_assay: Genotype: Punc-25::GFP Paper_evidence: WBPaper00033465
              Curator_confirmed: WBPerson557
    Phenotype_not_observed: WBPhenotype:0001225 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comment to the NBP from Dr. H. Sawa: non Psa. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: HS
  Reference: WBPaper00033465
  Remark: 21101/21102-21505/21506 (404 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