WormBase Tree Display for Variation: WBVar00091807

WBVar00091807 Name: Public_name: ok520
    Other_name: F47D12.1a.1:c.735-461_1093del
      F47D12.1c.1:c.735-461_1093del
      F47D12.1b.1:c.735-461_1093del
    HGVSg: CHROMOSOME_III:g.6317251_6318409del
  Sequence_details: SMap: S_parent: Sequence: F47D12
    Flanking_sequences: aaaacttggataccacgtagtagcagacta ttgatgcggatagtgtatcatcaatggttg
    Mapping_target: F47D12
    Type_of_mutation: Deletion
    PCR_product: OK520_external
      OK520_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00031470
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00001518
    Transcript: F47D12.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F47D12.1b.1:c.735-461_1093del
        cDNA_position: ?-1148
        CDS_position: ?-1093
        Protein_position: ?-365
        Intron_number: 6-8/12
        Exon_number: 7-9/13
      F47D12.1e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-625
        CDS_position: ?-253
        Protein_position: ?-85
        Intron_number: 2-3/7
        Exon_number: 1-4/8
      F47D12.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F47D12.1a.1:c.735-461_1093del
        cDNA_position: ?-1136
        CDS_position: ?-1093
        Protein_position: ?-365
        Intron_number: 6-8/13
        Exon_number: 7-9/14
      F47D12.1c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F47D12.1c.1:c.735-461_1093del
        cDNA_position: ?-1138
        CDS_position: ?-1093
        Protein_position: ?-365
        Intron_number: 6-8/12
        Exon_number: 7-9/13
  Isolation: Mutagen: UV/TMP
  Genetics: Mapping_data: In_multi_point: 4334
  Description: Phenotype (21)
    Phenotype_not_observed: WBPhenotype:0000001 Paper_evidence: WBPaper00032008
        Curator_confirmed: WBPerson712
        Remark: The average A-P curvature was similar among wild type animals, gar-2(-) animals and gar-2(-) animals with GAR-2 overexpressed in cholinergic neurons. Paper_evidence: WBPaper00032008
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Sensitivity to aldiarb was determined by analyzing the onset of paralysis after treatment with 1mM aldicarb. Paper_evidence: WBPaper00032008
              Curator_confirmed: WBPerson712
          Genotype: wt or [Punc-17::Venus::GAR-2] Paper_evidence: WBPaper00032008
              Curator_confirmed: WBPerson712
      WBPhenotype:0000845 Paper_evidence: WBPaper00032008
        Curator_confirmed: WBPerson712
        Remark: Muscle sensitivity to levamisole was not altered in the gar-2 mutant compared with wild type. Paper_evidence: WBPaper00032008
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00032008
              Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Sensitivity was determined by analyzing the onset of paralysis after treatment with 200uM levamisole. Paper_evidence: WBPaper00032008
              Curator_confirmed: WBPerson712
      WBPhenotype:0001012 Paper_evidence: WBPaper00032196
        Curator_confirmed: WBPerson712
        Remark: Animals were as susceptible to infection by P. aeruginosa as N2 animals. Paper_evidence: WBPaper00032196
            Curator_confirmed: WBPerson712
        Phenotype_assay: Strain: WBStrain00031470 Paper_evidence: WBPaper00032196
              Curator_confirmed: WBPerson712
  Reference: WBPaper00043908
    WBPaper00032196
    WBPaper00031872
    WBPaper00032008
    WBPaper00051184
  Remark (3)
  Method: KO_consortium_allele