WormBase Tree Display for Variation: WBVar00000046

WBVar00000046 Evidence: Author_evidence: De Bono M
  Name: Public_name: ad609
    Other_name: CE06941:p.Thr83Ile
      C39E6.6.1:c.248C>T
    HGVSg: CHROMOSOME_X:g.4769291G>A
  Sequence_details: SMap: S_parent: Sequence: C39E6
    Flanking_sequences: gaacctggcggcgagcgattgcatgatgtgcatattatcgcttccaatca tccaatcacaaatgtgtacaaaaactggtactttggaaatcta
    Mapping_target: C39E6
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000303
      WBStrain00000307
      WBStrain00005493
    Laboratory: DA
    Status: Live
  Affects: Gene: WBGene00003807
    Transcript: C39E6.6.1 (12)
    Interactor (17)
  Genetics: Interpolated_map_position: X -6.64744
  Description: Phenotype (35)
    Phenotype_not_observed: WBPhenotype:0000001 Paper_evidence: WBPaper00056622
        Curator_confirmed: WBPerson24060
        Remark: Figure 3, figure supplement 2: body posture described by eigenworms unaffected. Paper_evidence: WBPaper00056622
            Curator_confirmed: WBPerson24060
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00056622
              Curator_confirmed: WBPerson24060
          Genotype: N2 Paper_evidence: WBPaper00056622
              Curator_confirmed: WBPerson24060
      WBPhenotype:0000039 Paper_evidence: WBPaper00032196
        Curator_confirmed: WBPerson712
        Remark: Animals grown on heat-killed E. coli exhibited the same life span as wild-type animals. Paper_evidence: WBPaper00032196
            Curator_confirmed: WBPerson712
        Phenotype_assay: Strain: WBStrain00005493 Paper_evidence: WBPaper00032196
              Curator_confirmed: WBPerson712
      WBPhenotype:0000637 Paper_evidence: WBPaper00003187
        Curator_confirmed: WBPerson712
        Remark: Animals did not appear to have any defects in dauer formation. Paper_evidence: WBPaper00003187
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00003187
          Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were assayed on a bacterial lawn. Paper_evidence: WBPaper00003187
              Curator_confirmed: WBPerson712
      WBPhenotype:0001006 Paper_evidence: WBPaper00032196
        Curator_confirmed: WBPerson712
        Remark: Pumping rates were similar to wild type. Paper_evidence: WBPaper00032196
            Curator_confirmed: WBPerson712
        Phenotype_assay: Strain: WBStrain00005493 Paper_evidence: WBPaper00032196
              Curator_confirmed: WBPerson712
          Treatment: Pumping rates were determined for one day old adult hermaphrodites grown on E. coli or P. aeruginosa. Paper_evidence: WBPaper00032196
              Curator_confirmed: WBPerson712
      WBPhenotype:0001285 Paper_evidence: WBPaper00045598
        Curator_confirmed: WBPerson712
        Remark: Exposing npr-1(ad609) animals to 10% CO2 resulted in a response similar to that of wild-type animals. Paper_evidence: WBPaper00045598
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003023 Paper_evidence: WBPaper00045598
              Curator_confirmed: WBPerson712
      WBPhenotype:0001764 Paper_evidence: WBPaper00037908
        Curator_confirmed: WBPerson557
        Remark: The carbon dioxide-evoked calcium transients of BAG neurons were similar to control. Paper_evidence: WBPaper00037908
            Curator_confirmed: WBPerson557
      WBPhenotype:0002405 Paper_evidence: WBPaper00056622
        Curator_confirmed: WBPerson24060
        Remark: Figure 3, figure supplement 1: aggregation phenotype unaffected after removing pheromones using daf-22. Paper_evidence: WBPaper00056622
            Curator_confirmed: WBPerson24060
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00056622
              Curator_confirmed: WBPerson24060
          Genotype: N2 Paper_evidence: WBPaper00056622
              Curator_confirmed: WBPerson24060
      WBPhenotype:0002534 Paper_evidence: WBPaper00032501
        Curator_confirmed: WBPerson2021
        Remark: Examination of five transcriptional targets of the pmk-1 p38 MAPK immune signaling pathway reveals no differences between the WT and npr-1 mutant strains Paper_evidence: WBPaper00032501
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032501
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Quantitative RT-PCR Paper_evidence: WBPaper00032501
              Curator_confirmed: WBPerson2021
  Reference (22)
  Remark: In addition to the curated mutation ad609 also carries a T(144)->A mutation with flanking sequences of acaccactatcccaaagaggagcatttctt & ctactgttctattgtggatcctctcttttg Curator_confirmed: WBPerson2970
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00003807 Missense 83 T to A
  Method: Substitution_allele