WormBase Tree Display for Variation: WBVar00142961

WBVar00142961 Evidence: Paper_evidence: WBPaper00004891
  Name: Public_name: e102
    Other_name: T10A3.1a.1:c.2207+1G>A
      T10A3.1d.1:c.2162+1G>A
      T10A3.1f.1:c.2162+1G>A
      T10A3.1b.1:c.2207+1G>A
      T10A3.1e.1:c.2168+1G>A
      T10A3.1c.1:c.2168+1G>A
    HGVSg: CHROMOSOME_X:g.7275968C>T
  Sequence_details (5)
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004100
      WBStrain00005508
      WBStrain00005509
      WBStrain00027194
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006750
    Transcript: T10A3.1c.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1c.1:c.2168+1G>A
        Intron_number: 16/28
      T10A3.1d.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1d.1:c.2162+1G>A
        Intron_number: 16/27
      T10A3.1e.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1e.1:c.2168+1G>A
        Intron_number: 16/27
      T10A3.1b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1b.1:c.2207+1G>A
        Intron_number: 15/27
      T10A3.1a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1a.1:c.2207+1G>A
        Intron_number: 16/27
      T10A3.1f.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: T10A3.1f.1:c.2162+1G>A
        Intron_number: 16/26
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: X -1.78183
    Mapping_data: In_2_point: 147
        182
        3912
        3913
        6198
      In_multi_point (13)
      In_pos_neg_data (13)
  Description: Phenotype: 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:0000164 Paper_evidence: WBPaper00043908
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: slightly thin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slightly small and thin Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000353 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: tends to back Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000565 Paper_evidence: WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: weak coiler Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      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:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: fairly active Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0001005 Paper_evidence: WBPaper00043908
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: loopy movement in reverse Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001289 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Ric Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001622 Paper_evidence: WBPaper00002487
        Curator_confirmed: WBPerson554
        Remark: Figure 3 Paper_evidence: WBPaper00002487
            Curator_confirmed: WBPerson554
        Affected_by: Molecule: WBMol:00004929 Paper_evidence: WBPaper00002487
              Curator_confirmed: WBPerson554
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001716 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001852 Paper_evidence: WBPaper00035074
        Curator_confirmed: WBPerson2021
        Remark: Mutants are susceptible to tribendimidine Paper_evidence: WBPaper00035074
            Curator_confirmed: WBPerson2021
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002293 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:0002308 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002323 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002335 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002382 Paper_evidence: WBPaper00048427
        Curator_confirmed: WBPerson11689
        Phenotype_assay: Genotype: dvIs19 [Pgst-4::GFP::NLS] Paper_evidence: WBPaper00048427
              Curator_confirmed: WBPerson11689
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
  Reference: WBPaper00043908
    WBPaper00035074
    WBPaper00001709
    WBPaper00028886
    WBPaper00015500
    WBPaper00000031
    WBPaper00002487
    WBPaper00015253
    WBPaper00045955
    WBPaper00048427
  Method: Substitution_allele