WormBase Tree Display for Variation: WBVar00143025

WBVar00143025 Name: Public_name: e191
    Other_name: CE36087:p.Gln16Ter
      CE05183:p.Gln16Ter
      B0564.10a.1:c.46C>T
      B0564.10b.1:c.46C>T
    HGVSg: CHROMOSOME_IV:g.13119259C>T
  Sequence_details: SMap: S_parent: Sequence: B0564
    Flanking_sequences: gccacactgactgctatacaccagcagcag agtcgcataatcggtttgttttattttttg
    Mapping_target: B0564
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004209
      WBStrain00004961
      WBStrain00004994
      WBStrain00005468
      WBStrain00007440
      WBStrain00007441
      WBStrain00022486
      WBStrain00022487
      WBStrain00027223
      WBStrain00027524
      WBStrain00035089
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006766
    Transcript: B0564.10b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0564.10b.1:c.46C>T
        HGVSp: CE36087:p.Gln16Ter
        cDNA_position: 170
        CDS_position: 46
        Protein_position: 16
        Exon_number: 2/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      B0564.10a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0564.10a.1:c.46C>T
        HGVSp: CE05183:p.Gln16Ter
        cDNA_position: 283
        CDS_position: 46
        Protein_position: 16
        Exon_number: 2/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000502940
      WBInteraction000503400
      WBInteraction000525407
      WBInteraction000541742
      WBInteraction000558281
      WBInteraction000576769
  Genetics: Interpolated_map_position: IV 8.20747
    Mapping_data: In_2_point: 97
        121
        317
        555
        729
        730
        823
        4659
      In_multi_point: 103
        110
        112
        113
        114
        126
        128
        131
        222
        223
        224
        258
        302
        418
        508
        625
        627
        628
        659
        660
        676
        677
        680
        681
        682
        689
        727
        763
        767
        896
        1129
        1130
        1216
        1263
        1520
        1613
        1614
        1615
        1616
        1617
        1619
        3134
        3252
        5467
        5470
      In_pos_neg_data: 830
        2731
        3253
        3821
        3825
        3845
        3891
        4677
        4686
        8030
        8262
  Description: Phenotype: WBPhenotype:0000164 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000229 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: rather small Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000425 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: VD and DD motoneuron axons fail to stain with anti-GABA antibodies Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000563 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: shrinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000632 Paper_evidence: WBPaper00002837
        Curator_confirmed: WBPerson691
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slow good forward movement Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000905 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: PVP neurons abnormal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006832 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001005 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor backing Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001014 Paper_evidence: WBPaper00061439
        Curator_confirmed: WBPerson49407
      WBPhenotype:0001224 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: VD and DD motoneuron axons are displaced Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001482 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002292 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002295 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002310 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002321 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002336 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002344 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: 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
        Variation_effect: Null: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference: WBPaper00040284
    WBPaper00043908
    WBPaper00029020
    WBPaper00032446
    WBPaper00000031
    WBPaper00011119
    WBPaper00004883
    WBPaper00035198
    WBPaper00013729
    WBPaper00015616
    WBPaper00015530
    WBPaper00002837
    WBPaper00014275
    WBPaper00016473
    WBPaper00013983
    WBPaper00013783
    WBPaper00061439
  Method: Substitution_allele