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 (11)
    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 (45)
      In_pos_neg_data (11)
  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 (2)
      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 (17)
  Method: Substitution_allele