WormBase Tree Display for Variation: WBVar00266636

WBVar00266636 Evidence: Paper_evidence: WBPaper00030754
  Name: Public_name: u280
    Other_name: ZK897.1r.1:c.1966C>T
      CE49876:p.Gln220Ter
      ZK897.1h.1:c.1966C>T
      ZK897.1j.1:c.2059C>T
      CE49750:p.Gln680Ter
      CE49778:p.Gln668Ter
      ZK897.1q.1:c.2002C>T
      CE49924:p.Gln668Ter
      CE49966:p.Gln656Ter
      CE44675:p.Gln680Ter
      CE49911:p.Gln687Ter
      CE44694:p.Gln220Ter
      CE49941:p.Gln680Ter
      CE44651:p.Gln220Ter
      ZK897.1s.1:c.658C>T
      CE44637:p.Gln668Ter
      ZK897.1d.1:c.658C>T
      ZK897.1c.1:c.2002C>T
      ZK897.1i.1:c.2023C>T
      ZK897.1p.1:c.2023C>T
      ZK897.1m.1:c.2038C>T
      ZK897.1b.1:c.2002C>T
      ZK897.1a.1:c.2038C>T
      CE49928:p.Gln668Ter
      CE49853:p.Gln675Ter
      ZK897.1o.1:c.2002C>T
      CE49815:p.Gln687Ter
      CE47452:p.Gln675Ter
      ZK897.1n.1:c.2002C>T
      ZK897.1l.1:c.2038C>T
      CE47155:p.Gln656Ter
      CE44563:p.Gln668Ter
      ZK897.1e.1:c.658C>T
      ZK897.1k.1:c.2059C>T
    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 (17)
  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