WormBase Tree Display for Variation: WBVar00143947

WBVar00143947 Evidence: Paper_evidence: WBPaper00002847
  Name: Public_name: e1368
    Other_name: e1368ts
      CE50158:p.Ser497Leu
      Y55D5A.5c.1:c.1718C>T
      Y55D5A.5a.1:c.1718C>T
      CE50312:p.Ser526Leu
      Y55D5A.5d.1:c.1577C>T
      CE50204:p.Ser573Leu
      Y55D5A.5e.1:c.1490C>T
      CE46852:p.Ser573Leu
    HGVSg: CHROMOSOME_III:g.3012843G>A
  Sequence_details: SMap: S_parent: Sequence: Y55D5A
    Flanking_sequences: tccggaatttacgacgtattgaggcaaagt actgttcagaaatctatatgctatcacagt
    Mapping_target: Y55D5A
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004883
      WBStrain00004930
      WBStrain00004931
      WBStrain00004933
      WBStrain00005458
      WBStrain00006381
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000898
    Transcript: Y55D5A.5e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5e.1:c.1490C>T
        HGVSp: CE50158:p.Ser497Leu
        cDNA_position: 1490
        CDS_position: 1490
        Protein_position: 497
        Exon_number: 7/15
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
      Y55D5A.5a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5a.1:c.1718C>T
        HGVSp: CE46852:p.Ser573Leu
        cDNA_position: 1816
        CDS_position: 1718
        Protein_position: 573
        Exon_number: 10/19
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
      Y55D5A.5c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5c.1:c.1718C>T
        HGVSp: CE50204:p.Ser573Leu
        cDNA_position: 1881
        CDS_position: 1718
        Protein_position: 573
        Exon_number: 11/21
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
      Y55D5A.5d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5d.1:c.1577C>T
        HGVSp: CE50312:p.Ser526Leu
        cDNA_position: 1577
        CDS_position: 1577
        Protein_position: 526
        Exon_number: 8/16
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
    Interactor (52)
  Genetics: Interpolated_map_position: III -8.06017
    Mapping_data: In_2_point: 411
        412
      In_multi_point: 347
        1396
        1657
        1850
        1851
        1853
        2038
        2439
  Description: Phenotype (21)
    Phenotype_not_observed: WBPhenotype:0000054 Paper_evidence: WBPaper00038449
        Curator_confirmed: WBPerson3779
      WBPhenotype:0000114 Paper_evidence: WBPaper00039871
        Curator_confirmed: WBPerson712
        Remark: vit-2/5 mRNA levels were similar to wildtype on days 1,2,and 4. Paper_evidence: WBPaper00039871
            Curator_confirmed: WBPerson712
      WBPhenotype:0000481 Paper_evidence: WBPaper00037970
        Curator_confirmed: WBPerson2987
        Remark: Mutant animals did not display an abnormal aversion response to copper, compared to wild type animals (Figure 2B) Paper_evidence: WBPaper00037970
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00002862 Paper_evidence: WBPaper00037970
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000681 Paper_evidence: WBPaper00037649
        Curator_confirmed: WBPerson712
        Remark: Animals are sensitive to DMPP. Paper_evidence: WBPaper00037649
            Curator_confirmed: WBPerson712
      WBPhenotype:0001184 Paper_evidence: WBPaper00032150
        Curator_confirmed: WBPerson712
        Remark: Worms exhibited similar levels of fat storage (TAGs) to N2. Paper_evidence: WBPaper00032150
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Synchronized L1s were plated on mixed isotope feeding plates composed of 12C- and 13C-enriched E. coli cultures, and collected after 44-48 hr of feeding (worms were harvested as mid-L4 larvae). All experiments were carried out at 20 deg C. Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
      WBPhenotype:0001470 Paper_evidence: WBPaper00037970
        Curator_confirmed: WBPerson2987
        Remark: Mutants exhibited no change in chemotaxis towards diacetyl, compared to wild type controls (Figure 2A) Paper_evidence: WBPaper00037970
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00002819 Paper_evidence: WBPaper00037970
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001742 Paper_evidence: WBPaper00032150
        Curator_confirmed: WBPerson712
        Remark: Worms had similar to N2 levels of synthesized fatty acids. Paper_evidence: WBPaper00032150
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Synchronized L1s were plated on mixed isotope feeding plates composed of 12C- and 13C-enriched E. coli cultures, and collected after 44-48 hr of feeding (worms were harvested as mid-L4 larvae). All experiments were carried out at 20 deg C. Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Mutants 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:0001987 Paper_evidence: WBPaper00001039
        Curator_confirmed: WBPerson712
        Remark: Animals contained normal levels of AChE activity. Paper_evidence: WBPaper00001039
            Curator_confirmed: WBPerson712
      WBPhenotype:0004023 Paper_evidence: WBPaper00037970
        Curator_confirmed: WBPerson2987
        Remark: Mutant animals exhibit a wild type frequency of body bends (Figure 3A) Paper_evidence: WBPaper00037970
            Curator_confirmed: WBPerson2987
  Reference (37)
  Method: Substitution_allele