WormBase Tree Display for Variation: WBVar00266636

WBVar00266636 Evidence: Paper_evidence: WBPaper00030754
  Name: Public_name: u280
    Other_name (34)
    HGVSg: CHROMOSOME_IV:g.12782539C>T
  Sequence_details: SMap: S_parent: Sequence: ZK897
    Flanking_sequences: gatgacgaaaatgagcgacatctatgggtc aggctctgtaccgagccacaggtcaagcct
    Mapping_target: ZK897
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00030754
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: TU
    Status: Live
  Affects: Gene: WBGene00006767
    Transcript: ZK897.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1c.1:c.2002C>T
        HGVSp: CE44563:p.Gln668Ter
        cDNA_position: 2002
        CDS_position: 2002
        Protein_position: 668
        Exon_number: 11/21
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1p.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1p.1:c.2023C>T
        HGVSp: CE49853:p.Gln675Ter
        cDNA_position: 2023
        CDS_position: 2023
        Protein_position: 675
        Exon_number: 12/22
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1q.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1q.1:c.2002C>T
        HGVSp: CE49778:p.Gln668Ter
        cDNA_position: 2002
        CDS_position: 2002
        Protein_position: 668
        Exon_number: 11/21
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1o.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1o.1:c.2002C>T
        HGVSp: CE49924:p.Gln668Ter
        cDNA_position: 2002
        CDS_position: 2002
        Protein_position: 668
        Exon_number: 11/20
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1s.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1s.1:c.658C>T
        HGVSp: CE49876:p.Gln220Ter
        cDNA_position: 658
        CDS_position: 658
        Protein_position: 220
        Exon_number: 4/14
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1a.1:c.2038C>T
        HGVSp: CE44675:p.Gln680Ter
        cDNA_position: 2057
        CDS_position: 2038
        Protein_position: 680
        Exon_number: 13/22
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1l.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1l.1:c.2038C>T
        HGVSp: CE49750:p.Gln680Ter
        cDNA_position: 2038
        CDS_position: 2038
        Protein_position: 680
        Exon_number: 12/22
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1k.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1k.1:c.2059C>T
        HGVSp: CE49815:p.Gln687Ter
        cDNA_position: 2059
        CDS_position: 2059
        Protein_position: 687
        Exon_number: 13/22
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1d.1:c.658C>T
        HGVSp: CE44694:p.Gln220Ter
        cDNA_position: 658
        CDS_position: 658
        Protein_position: 220
        Exon_number: 4/12
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1e.1:c.658C>T
        HGVSp: CE44651:p.Gln220Ter
        cDNA_position: 658
        CDS_position: 658
        Protein_position: 220
        Exon_number: 4/13
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1i.1:c.2023C>T
        HGVSp: CE47452:p.Gln675Ter
        cDNA_position: 2023
        CDS_position: 2023
        Protein_position: 675
        Exon_number: 12/21
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1n.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1n.1:c.2002C>T
        HGVSp: CE49928:p.Gln668Ter
        cDNA_position: 2002
        CDS_position: 2002
        Protein_position: 668
        Exon_number: 11/21
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1h.1:c.1966C>T
        HGVSp: CE47155:p.Gln656Ter
        cDNA_position: 1966
        CDS_position: 1966
        Protein_position: 656
        Exon_number: 10/19
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1b.1:c.2002C>T
        HGVSp: CE44637:p.Gln668Ter
        cDNA_position: 2021
        CDS_position: 2002
        Protein_position: 668
        Exon_number: 12/20
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1j.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1j.1:c.2059C>T
        HGVSp: CE49911:p.Gln687Ter
        cDNA_position: 2059
        CDS_position: 2059
        Protein_position: 687
        Exon_number: 13/23
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1m.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1m.1:c.2038C>T
        HGVSp: CE49941:p.Gln680Ter
        cDNA_position: 2038
        CDS_position: 2038
        Protein_position: 680
        Exon_number: 12/21
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      ZK897.1r.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK897.1r.1:c.1966C>T
        HGVSp: CE49966:p.Gln656Ter
        cDNA_position: 1966
        CDS_position: 1966
        Protein_position: 656
        Exon_number: 10/20
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: IV 6.32069
  Description: Phenotype: WBPhenotype:0000204 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: aBoc is executed ~50% of the time. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 50 Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00030754
          Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
      WBPhenotype:0000391 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: Emc precedes aBoc 75% of the time. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 75 Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00030754
          Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
      WBPhenotype:0000644 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: Contains the same amber suppressible mutation as e375 and e69. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
      WBPhenotype:0001410 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: As determined by a lack of signal on Western blots probed with an antibody corresponding to amino acids 42-304 of UNC-31. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: As assayed by ANF::GFP fluorescence accumulation in coelomocytes Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: EG3682 unc-31(u280) oxIs206[Paex-3:ANF::GFP] Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000604 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: Mutants exhibit the correct specification, number and position of cell bodies of the GABAergic nervous system. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: EG1846 unc-31(u280); oxIs12[Punc-47:GFP] Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
      WBPhenotype:0000616 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: The number of synaptic densities in dorsal nerve cord cholinergic neurons of unc-31 mutants is similar to that in wild-type animals. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Not stated Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
      WBPhenotype:0000625 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: The density and distribution of tagged Synaptobrevin in GABA neurons is normal. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: EG1485 unc-31(u280) nIs52[Punc-25:SNB-1::GFP;lin-15(+)] Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
      WBPhenotype:0001224 Paper_evidence: WBPaper00030754
        Curator_confirmed: WBPerson712
        Remark: No gross defects were observed in the number of GABA commissures or in GABA axon projection. Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: EG1846 unc-31(u280); oxIs12[Punc-47:GFP] Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
  Reference: WBPaper00015225
    WBPaper00017299
    WBPaper00030754
    WBPaper00048388
  Method: Substitution_allele