WormBase Tree Display for Variation: WBVar00054292

WBVar00054292 Evidence: Paper_evidence: WBPaper00005344
  Name: Public_name: cs28
    Other_name: R11E3.6a.1:c.779_795-5del
    HGVSg: CHROMOSOME_IV:g.4798113_4798179del
  Sequence_details: SMap: S_parent: Sequence: R11E3
    Flanking_sequences: tgctatcgaaaagtcagaaaagtcgatttt gtagggaaacaaataacatgcttatggaaa
    Mapping_target: R11E3
    Type_of_mutation: Deletion: tgctactacatgtcatgtaagtggagttgttaaagtttacaaaattatta ctgatgaaataattttt Person_evidence: WBPerson637
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035410
    Laboratory: UP
    Status: Live
  Affects: Gene: WBGene00001324
    Transcript: R11E3.6a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: R11E3.6a.1:c.779_795-5del
        cDNA_position: 781-?
        CDS_position: 779-?
        Protein_position: 260-?
        Intron_number: 6/16
        Exon_number: 6/17
    Interactor (55)
  Genetics: Interpolated_map_position: IV 1.25862
  Description: Phenotype: WBPhenotype:0000112 Paper_evidence: WBPaper00035551
        Curator_confirmed: WBPerson712
        Remark: In Western analyses, a polyclonal antibody against EOR-1 equally recognizes a band at the predicted size of EOR-1 (115 kDa) in wild-type animals but not in eor-1(cs28) animals. Paper_evidence: WBPaper00035551
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00035551
            Curator_confirmed: WBPerson712
      WBPhenotype:0000134 Paper_evidence: WBPaper00054564
        Curator_confirmed: WBPerson3890
        Remark: Figure 1, reduced expression of Pabts-1b::gfp, Pkcc-2c::gfp, and Pida-1::gfp in HSNs. Paper_evidence: WBPaper00054564
            Curator_confirmed: WBPerson3890
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00054564
                Curator_confirmed: WBPerson3890
      WBPhenotype:0001278 Paper_evidence: WBPaper00005344
          WBPaper00057072
        Curator_confirmed: WBPerson2987
          WBPerson712
        Remark: 5% (n = 41) of eor-1(cs28) mutants lacked normal EGL-17::GFP expression in P6.p or its daughters. Paper_evidence: WBPaper00005344
            Curator_confirmed: WBPerson2987
          "eor-1(cs28), a null allele, failed to complement ju198 for the RMED/V phenotypes" Paper_evidence: WBPaper00057072
            Curator_confirmed: WBPerson712
        Image: WBPicture0000014911 Paper_evidence: WBPaper00057072
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00005344
              Curator_confirmed: WBPerson2987
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005344
            Curator_confirmed: WBPerson2987
          Hypomorph_reduction_of_function: Paper_evidence: WBPaper00057072
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008125 PATO:0000460 Paper_evidence: WBPaper00005344
                Curator_confirmed: WBPerson2987
            WBbt:0005027 PATO:0000460 Paper_evidence: WBPaper00057072
                Curator_confirmed: WBPerson712
            WBbt:0005021 PATO:0000460 Paper_evidence: WBPaper00057072
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: EGL-17::GFP Paper_evidence: WBPaper00005344
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00038408
        Curator_confirmed: WBPerson712
        Remark: lag-2p(min) and lag-2p(min deletion VPCrep) transcription was not affected by loss of eor-1. Paper_evidence: WBPaper00038408
            Curator_confirmed: WBPerson712
      WBPhenotype:0001236 Paper_evidence: WBPaper00054844
        Curator_confirmed: WBPerson712
        Remark: eor-1 mutants did not show enhancement of Pabts-1b::gfp expression by pkc-1(gf) (Figure 1C) Paper_evidence: WBPaper00054844
            Curator_confirmed: WBPerson712
        Image: WBPicture0000013878 Paper_evidence: WBPaper00054844
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: vsIs138[Pabts-1b::gfp, lin15(+)]; Ex[Pmec-7::pkc-1(gf) SL2 mCherry, Pmyo-2::gfp] Paper_evidence: WBPaper00054844
              Curator_confirmed: WBPerson712
  Reference: WBPaper00038408
    WBPaper00005344
    WBPaper00010208
    WBPaper00035551
    WBPaper00054564
    WBPaper00057072
    WBPaper00054844
  Remark: cs28 is a 67bp deletion. Breakpoints were sent by personal communication and are different to those described in PMID 12130541 Curator_confirmed: WBPerson2970
  Method: Deletion_allele