WormBase Tree Display for Variation: WBVar00142938

WBVar00142938 Evidence: Paper_evidence: WBPaper00006005
  Name: Public_name: e55
    Other_name: T02C5.5p.1:c.1804C>T
      T02C5.5o.1:c.1648C>T
      CE51886:p.Gln488Ter
      T02C5.5k.1:c.1267C>T
      CE51879:p.Gln488Ter
      T02C5.5h.1:c.1462C>T
      T02C5.5m.1:c.1267C>T
      T02C5.5g.1:c.1462C>T
      T02C5.5j.1:c.1267C>T
      CE34980:p.Gln458Ter
      T02C5.5f.1:c.1462C>T
      CE52764:p.Gln550Ter
      CE52692:p.Gln602Ter
      CE51900:p.Gln332Ter
      CE51899:p.Gln332Ter
      CE51867:p.Gln423Ter
      CE51907:p.Gln488Ter
      T02C5.5i.1:c.1462C>T
      T02C5.5b.1:c.1372C>T
      CE52709:p.Gln416Ter
      CE51857:p.Gln423Ter
      CE51839:p.Gln423Ter
      T02C5.5n.1:c.1672C>T
      T02C5.5q.1:c.1246C>T
      CE52755:p.Gln558Ter
      T02C5.5c.1:c.994C>T
      CE51856:p.Gln423Ter
      CE51840:p.Gln488Ter
      T02C5.5a.1:c.994C>T
      T02C5.5l.1:c.1267C>T
    HGVSg: CHROMOSOME_X:g.2723343G>A
  Sequence_details: SMap: S_parent: Sequence: T02C5
    Flanking_sequences: agacggcgagccgctaataaaaagttaaaa aagcctcaaaacagcagtctacagaaactg
    Mapping_target: T02C5
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00006005
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004087
      WBStrain00004519
      WBStrain00005534
      WBStrain00005535
      WBStrain00005536
      WBStrain00008428
      WBStrain00027630
      WBStrain00029947
      WBStrain00030697
      WBStrain00030826
      WBStrain00034256
      WBStrain00035027
      WBStrain00035127
      WBStrain00035128
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006742
    Transcript: T02C5.5g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5g.1:c.1462C>T
        HGVSp: CE51886:p.Gln488Ter
        cDNA_position: 1462
        CDS_position: 1462
        Protein_position: 488
        Exon_number: 8/29
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5q.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5q.1:c.1246C>T
        HGVSp: CE52709:p.Gln416Ter
        cDNA_position: 1246
        CDS_position: 1246
        Protein_position: 416
        Exon_number: 8/28
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5j.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5j.1:c.1267C>T
        HGVSp: CE51856:p.Gln423Ter
        cDNA_position: 1267
        CDS_position: 1267
        Protein_position: 423
        Exon_number: 8/29
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5o.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5o.1:c.1648C>T
        HGVSp: CE52764:p.Gln550Ter
        cDNA_position: 1648
        CDS_position: 1648
        Protein_position: 550
        Exon_number: 12/32
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5f.1:c.1462C>T
        HGVSp: CE51879:p.Gln488Ter
        cDNA_position: 1462
        CDS_position: 1462
        Protein_position: 488
        Exon_number: 8/30
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5h.1:c.1462C>T
        HGVSp: CE51907:p.Gln488Ter
        cDNA_position: 1462
        CDS_position: 1462
        Protein_position: 488
        Exon_number: 8/29
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5c.1:c.994C>T
        HGVSp: CE51899:p.Gln332Ter
        cDNA_position: 994
        CDS_position: 994
        Protein_position: 332
        Exon_number: 6/28
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5p.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5p.1:c.1804C>T
        HGVSp: CE52692:p.Gln602Ter
        cDNA_position: 1804
        CDS_position: 1804
        Protein_position: 602
        Exon_number: 14/34
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5k.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5k.1:c.1267C>T
        HGVSp: CE51839:p.Gln423Ter
        cDNA_position: 1267
        CDS_position: 1267
        Protein_position: 423
        Exon_number: 8/28
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5m.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5m.1:c.1267C>T
        HGVSp: CE51867:p.Gln423Ter
        cDNA_position: 1267
        CDS_position: 1267
        Protein_position: 423
        Exon_number: 8/28
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5l.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5l.1:c.1267C>T
        HGVSp: CE51857:p.Gln423Ter
        cDNA_position: 1267
        CDS_position: 1267
        Protein_position: 423
        Exon_number: 8/29
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5a.1:c.994C>T
        HGVSp: CE51900:p.Gln332Ter
        cDNA_position: 994
        CDS_position: 994
        Protein_position: 332
        Exon_number: 6/21
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5n.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5n.1:c.1672C>T
        HGVSp: CE52755:p.Gln558Ter
        cDNA_position: 1672
        CDS_position: 1672
        Protein_position: 558
        Exon_number: 12/32
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5i.1:c.1462C>T
        HGVSp: CE51840:p.Gln488Ter
        cDNA_position: 1462
        CDS_position: 1462
        Protein_position: 488
        Exon_number: 8/28
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      T02C5.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T02C5.5b.1:c.1372C>T
        HGVSp: CE34980:p.Gln458Ter
        cDNA_position: 1428
        CDS_position: 1372
        Protein_position: 458
        Exon_number: 9/30
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000052099
      WBInteraction000052101
      WBInteraction000501477
      WBInteraction000501479
      WBInteraction000502185
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: X -13.8024
    Mapping_data: In_2_point: 154
        3151
      In_multi_point: 160
        162
        353
        534
        790
        1194
        1211
        1548
        1773
        1778
        1779
        2313
        3082
        5461
      In_pos_neg_data: 1863
        1870
        1884
        1908
        1924
        1940
        1956
        1972
        1988
        2025
        2038
        2054
        2061
        5050
        5060
        5449
        5460
        5836
  Description: Phenotype: WBPhenotype:0000002 Paper_evidence: WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: weak kinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000005 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson7743
          Curator_confirmed: WBPerson48
      WBPhenotype:0000019 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000020 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000023 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: hypersensitive to serotonin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000536 Paper_evidence: WBPaper00039865
        Curator_confirmed: WBPerson712
        Remark: Cultured CEPsh glial cells from mutant worms exhibit altered intracellular calcium-based responses to depolarization. Paper_evidence: WBPaper00039865
            Curator_confirmed: WBPerson712
      WBPhenotype:0000556 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Fails to desensitize to dopamine. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004583 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000616 Paper_evidence: WBPaper00042396
        Curator_confirmed: WBPerson1687
        Remark: GABAergic neuromuscular junctions (NMJs) are enlarged Paper_evidence: WBPaper00042396
            Curator_confirmed: WBPerson1687
        Recessive: Paper_evidence: WBPaper00042396
          Curator_confirmed: WBPerson1687
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00042396
            Curator_confirmed: WBPerson1687
        EQ_annotations: Anatomy_term: WBbt:0005190 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
          GO_term: GO:0050808 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
            GO:0045202 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
      WBPhenotype:0000633 Paper_evidence: WBPaper00045955
        Curator_confirmed: WBPerson557
        Remark: Branch defects scored in PLM neuron. Paper_evidence: WBPaper00045955
            Curator_confirmed: WBPerson557
        Penetrance: Low: Paper_evidence: WBPaper00045955
              Curator_confirmed: WBPerson557
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson7743
          Curator_confirmed: WBPerson48
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000650 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson7743
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson7743
          Curator_confirmed: WBPerson48
      WBPhenotype:0001410 Paper_evidence: WBPaper00003955
        Curator_confirmed: WBPerson712
        Remark: No staining of activated MAP kinase was observed, even in after odorant stimulus, whereas immunoreactivity against the anti-activated-MAPK antibody was observed in the AWC neurons (and others) after 10 seconds of application with isoamylalcohol. Paper_evidence: WBPaper00003955
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003955
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00001063 Paper_evidence: WBPaper00003955
              Curator_confirmed: WBPerson712
      WBPhenotype:0001512 Paper_evidence: WBPaper00029404
        Curator_confirmed: WBPerson712
        Remark: Animals express str-2::GFP in both AWC cells, e.g. both AWC neurons are AWC on , whereas other animals have AWC symmetry similar to wild-type and a few animals have are 2 AWC off (n=103). Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00029404
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
            WBbt:0005832 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
            WBbt:0005833 PATO:0000460 Paper_evidence: WBPaper00029404
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: str-2::GFP Paper_evidence: WBPaper00029404
              Curator_confirmed: WBPerson712
      WBPhenotype:0001661 Paper_evidence: WBPaper00003760
          WBPaper00039901
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Mutants are defective in str-2 asymmetry Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
          Loss-of-function mutants showed a 2AWC-ON phenotype resembling that caused by nocodazole treatment. Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00003760
              WBPaper00039901
            Curator_confirmed: WBPerson2021
              WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00003760
                  WBPaper00039901
                Curator_confirmed: WBPerson2021
                  WBPerson712
        Phenotype_assay: Genotype: [str-2p::GFP] Paper_evidence: WBPaper00039901
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001182 Paper_evidence: WBPaper00031915
        Curator_confirmed: WBPerson2021
        Remark: Mutants had wild-type fat content Paper_evidence: WBPaper00031915
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Fat content was visualized by Nile red staining Paper_evidence: WBPaper00031915
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 and gcy-7 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6, otIs3 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001811 Paper_evidence: WBPaper00031915
        Curator_confirmed: WBPerson2021
        Remark: Mutants were susceptible to the fat-reducing effects of exogenously administered serotonin Paper_evidence: WBPaper00031915
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Reduced fat content of 5-HT-treated animals was visualized by Nile red staining and confirmed by thin-layer chromatography (TLC) quantitation of total triglycerides extracted from vehicle- and 5-HT-treated worms and by Sudan black fat staining Paper_evidence: WBPaper00031915
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00022744
    WBPaper00039901
    WBPaper00039865
    WBPaper00040284
    WBPaper00001709
    WBPaper00000031
    WBPaper00006052
    WBPaper00019070
    WBPaper00031915
    WBPaper00003760
    WBPaper00003955
    WBPaper00014960
    WBPaper00029404
    WBPaper00006005
    WBPaper00018051
    WBPaper00015459
    WBPaper00023702
    WBPaper00042396
    WBPaper00045955
    WBPaper00048388
    WBPaper00065262
  Remark: Resequencing of e55 places the lesion at Q(458) (in isoform T02C5.5b) with flanks of agacggcgagccgctaataaaaagttaaaa & aagcctcaaaacagcagtctacagaaactg Person_evidence: WBPerson12335
      Laboratory_evidence: KG
    Following genotyping from the CGC we are updating the flanking sequences to follow both the reported update from 2011 and those now supplied by the CGC. Old flanks [tgttgccattcagttggaaaattcatcaaa aactgaggtaagaataaataatagtgtttt]. Person_evidence: WBPerson2207
      Curator_confirmed: WBPerson1983
  Method: Substitution_allele