WormBase Tree Display for Variation: WBVar00143753

WBVar00143753 Evidence: Paper_evidence: WBPaper00003844
  Name: Public_name: e1112
    Other_name: B0432.5b.1:c.631C>T
      CE37742:p.Gln211Ter
      B0432.5c.1:c.826C>T
      B0432.5a.1:c.841C>T
      Y43H11AL.3a.2:c.-13+3945G>A
      CE45548:p.Gln276Ter
      CE29946:p.Gln281Ter
    HGVSg: CHROMOSOME_II:g.259619C>T
  Sequence_details: SMap: S_parent: Sequence: B0432
    Flanking_sequences: gcggtatatcggcaaaatttgaaaattctc aagaggagaaggttttgacagcggatagga
    Mapping_target: B0432
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004246
      WBStrain00034688
      WBStrain00055863
      WBStrain00055864
      WBStrain00055865
    Laboratory: CB
      IV
    Status: Live
  Affects: Gene: WBGene00004166
      WBGene00000296
    Transcript: Y43H11AL.3a.2 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y43H11AL.3a.2:c.-13+3945G>A
        Intron_number: 1/28
      B0432.5c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0432.5c.1:c.826C>T
        HGVSp: CE45548:p.Gln276Ter
        cDNA_position: 910
        CDS_position: 826
        Protein_position: 276
        Exon_number: 5/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      B0432.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0432.5a.1:c.841C>T
        HGVSp: CE29946:p.Gln281Ter
        cDNA_position: 841
        CDS_position: 841
        Protein_position: 281
        Exon_number: 4/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      B0432.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0432.5b.1:c.631C>T
        HGVSp: CE37742:p.Gln211Ter
        cDNA_position: 1547
        CDS_position: 631
        Protein_position: 211
        Exon_number: 4/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: II -15.661
    Mapping_data: In_2_point: 34
        797
      In_multi_point: 45
        273
  Description: Phenotype (35)
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00040570
        Curator_confirmed: WBPerson8126
        Remark: Fig.1 (lifespan extension upon reserpine treatment, not different from wild type) Paper_evidence: WBPaper00040570
            Curator_confirmed: WBPerson8126
        Affected_by: Molecule: WBMol:00002955 Paper_evidence: WBPaper00040570
              Curator_confirmed: WBPerson8126
      WBPhenotype:0000147 Paper_evidence: WBPaper00035327
        Curator_confirmed: WBPerson2021
        Remark: Fasted mutants exhibited a wild type starvation response and decreased strongly the time they spent roaming when they reencountered food Paper_evidence: WBPaper00035327
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000222 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: serotonin normal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000227 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: no defect in male turning behavior Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000238 Paper_evidence: WBPaper00035327
        Curator_confirmed: WBPerson2021
        Remark: Dopamine deficient cat-2 mutants did not have significant roaming defects Paper_evidence: WBPaper00035327
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000424 Paper_evidence: WBPaper00001861
        Curator_confirmed: WBPerson712
        Remark: Serotonin-IR (immunoreactivity) is WT. Paper_evidence: WBPaper00001861
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001861
                Curator_confirmed: WBPerson712
      WBPhenotype:0000456 Paper_evidence: WBPaper00000365
        Curator_confirmed: WBPerson712
      WBPhenotype:0000556 Paper_evidence: WBPaper00006375
        Curator_confirmed: WBPerson712
        Remark: ARS frequency of high-angled turns in the presence of exogenous dopamine is wild type as is the adaptation to dopamine over 30 minutes. Paper_evidence: WBPaper00006375
            Curator_confirmed: WBPerson712
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0000712 Paper_evidence: WBPaper00036343
        Curator_confirmed: WBPerson2021
        Remark: No significant change in germ cell death in cat-2 mutants compared to wild-type worms after IR Paper_evidence: WBPaper00036343
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000905 Paper_evidence: WBPaper00000365
        Curator_confirmed: WBPerson712
        Remark: Assayed by EM examination, vesicles and processes of the ventral ganglion are not different from WT. Paper_evidence: WBPaper00000365
            Curator_confirmed: WBPerson712
      WBPhenotype:0001101 Paper_evidence: WBPaper00038382
        Curator_confirmed: WBPerson712
        Remark: Clozapine-induced increases in egg laying was present. Paper_evidence: WBPaper00038382
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003634 Paper_evidence: WBPaper00038382
              Curator_confirmed: WBPerson712
      WBPhenotype:0001182 Paper_evidence: WBPaper00044757
        Curator_confirmed: WBPerson2987
        Remark: Figure 2A Paper_evidence: WBPaper00044757
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001326 Paper_evidence: WBPaper00036343
        Curator_confirmed: WBPerson2021
        Remark: No significant change in germ cell death in cat-2 mutants compared to wild-type worms after IR Paper_evidence: WBPaper00036343
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001462 Paper_evidence: WBPaper00032335
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited wild-type chemotaxis to NaCl. Paper_evidence: WBPaper00032335
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003571 Paper_evidence: WBPaper00032335
              Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were tested for response to 25 mM NaCl. Paper_evidence: WBPaper00032335
              Curator_confirmed: WBPerson712
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Mutants defective in the synthesis and reception of nonessential excitatory neurotransmitters 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:0001780 Paper_evidence: WBPaper00029060
        Curator_confirmed: WBPerson2021
        Remark: Mutants show normal butanone enhancement Paper_evidence: WBPaper00029060
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00029060
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Preexposure to 1:10 dilution of butanone and food. Animals were then subjected to odorant chemotaxis assays and/or selection assays Paper_evidence: WBPaper00029060
              Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:670
      DOID:809
      DOID:14330
      DOID:0050742
    Models_disease_in_annotation: WBDOannot00000689
      WBDOannot00000690
      WBDOannot00000691
      WBDOannot00000969
  Reference (35)
  Method: Substitution_allele