WormBase Tree Display for Variation: WBVar00239276

WBVar00239276 Name: Public_name: pk322
    Other_name: pk322te
    HGVSg: CHROMOSOME_X:g.9247183_9249117del
  Sequence_details: SMap: S_parent: Sequence: F18G5
    Flanking_sequences: aatttattgcttctcggatccggtgaatct tcacaatgttttgcatgtcaaaaaatttaa
    Mapping_target: F18G5
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028908
      WBStrain00028911
    Laboratory: NL
    Status: Live
  Affects: Gene: WBGene00001674
    Transcript: F18G5.3.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: 131-?
        CDS_position: 121-?
        Protein_position: 41-?
        Intron_number: 3-8/9
        Exon_number: 3-10/10
      F18G5.3.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: 193-?
        CDS_position: 121-?
        Protein_position: 41-?
        Intron_number: 4-9/10
        Exon_number: 4-11/11
    Interactor: WBInteraction000501260
      WBInteraction000503976
      WBInteraction000534901
      WBInteraction000534905
      WBInteraction000534906
  Isolation: Transposon_excision: Tc1
  Genetics: Interpolated_map_position: X 0.934375
    Mapping_data: In_multi_point: 4378
  Description: Phenotype (14)
    Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00028856
        Curator_confirmed: WBPerson712
        Remark: The average size, fluorescence level and number of SNB-1::CFP puncta in cholinergic motor neurons was not significantly different from wildtype. Paper_evidence: WBPaper00028856
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: SNB-1::CFP Paper_evidence: WBPaper00028856
              Curator_confirmed: WBPerson712
      WBPhenotype:0000679 Paper_evidence: WBPaper00028856
        Curator_confirmed: WBPerson712
        Remark: UNC-13::YFP puncta distribution is similar to wildtype in the dorsal cord. Paper_evidence: WBPaper00028856
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: UNC-13S::YFP Paper_evidence: WBPaper00028856
              Curator_confirmed: WBPerson712
      WBPhenotype:0000680 Paper_evidence: WBPaper00028856
        Curator_confirmed: WBPerson712
        Remark: Paralysis to 1mM aldicarb is indistinguishable from wild type as measured by the percent paralyzed over time. Heat shocked animals were slightly hypersensitive. Does not suppress aldicarb hypersensitivity due to constitutively active GPA-12 (Q205L). Paper_evidence: WBPaper00028856
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00028856
              Curator_confirmed: WBPerson712
      WBPhenotype:0000845 Paper_evidence: WBPaper00028856
        Curator_confirmed: WBPerson712
        Remark: This mutation has no effect on the time course of paralysis induced by 100uM levamisole compared to wildtype. Paper_evidence: WBPaper00028856
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00028856
              Curator_confirmed: WBPerson712
      WBPhenotype:0001725 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: gpa-12 is not required for transgene expression upon osmotic stress (Fig S4D) Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Animals with mutations in individual G protein subunits respond normally to CO2 Paper_evidence: WBPaper00031936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031936
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 10% CO2 Paper_evidence: WBPaper00031936
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001838 Paper_evidence: WBPaper00033094
        Curator_confirmed: WBPerson2021
        Remark: The PMA-induced upregulation of pnlp-29::GFP expression was normal in mutant worms Paper_evidence: WBPaper00033094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: frIs7 [pnlp-29::GFP] Paper_evidence: WBPaper00033094
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00043908
    WBPaper00031936
    WBPaper00033094
    WBPaper00028856
    WBPaper00049131
    WBPaper00065833
  Method: Deletion_allele