WormBase Tree Display for Variation: WBVar00275491

WBVar00275491 Evidence: Paper_evidence: WBPaper00030735
  Name: Public_name: zu129
    Other_name: CE27591:p.Trp198Ter
      T19E7.2a.1:c.594G>A
      T19E7.2c.1:c.324G>A
      CE31239:p.Trp108Ter
    HGVSg: CHROMOSOME_IV:g.5655282C>T
  Sequence_details: SMap: S_parent: Sequence: T19E7
    Flanking_sequences: cgaggatatcgacttgattgatgtgctatg agaagtgatattgctggagagaagggcaca
    Mapping_target: T19E7
    Type_of_mutation: Substitution: g a Paper_evidence
            Person_evidence: WBPerson1729
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007253
    Laboratory: JJ
    Status: Live
  Affects: Gene: WBGene00004804
    Transcript: T19E7.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T19E7.2a.1:c.594G>A
        HGVSp: CE27591:p.Trp198Ter
        cDNA_position: 594
        CDS_position: 594
        Protein_position: 198
        Exon_number: 3/9
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      T19E7.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: T19E7.2c.1:c.324G>A
        HGVSp: CE31239:p.Trp108Ter
        cDNA_position: 324
        CDS_position: 324
        Protein_position: 108
        Exon_number: 1/6
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000501233
      WBInteraction000501235
      WBInteraction000501239
      WBInteraction000501241
  Genetics: Interpolated_map_position: IV 2.04045
  Description: Phenotype: WBPhenotype:0000052 Paper_evidence: WBPaper00001521
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001521
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001521
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000111 Paper_evidence: WBPaper00035964
        Curator_confirmed: WBPerson2021
        Remark: The number of cells expressing end-1 and elt-2 within individual mutant embryos also varied greatly from embryo to embryo, unlike wild-type Paper_evidence: WBPaper00035964
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000137 Paper_evidence: WBPaper00035964
        Curator_confirmed: WBPerson2021
        Remark: med-1 and med-2 transcripts were essentially absent, and end-3 transcript numbers were greatly diminished. elt-2 transcripts are around 20-30% lower than the wild type. pop-1 mRNA levels in the skn-1 mutant embryos were virtually identical to those in the wild type Paper_evidence: WBPaper00035964
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000717 Paper_evidence: WBPaper00035964
        Curator_confirmed: WBPerson2021
        Remark: end-1 expression began approximately one cell cycle later than in the wild-type. Also, inter-embryo variation in end-1 expression was much higher than in wild-type Paper_evidence: WBPaper00035964
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001171 Paper_evidence: WBPaper00046170
        Curator_confirmed: WBPerson5092
        Remark: compared to N2. Completely suppresses longevity of daf-2(e1370) at 15C, but no suppression at 20C. Paper_evidence: WBPaper00046170
            Curator_confirmed: WBPerson5092
      WBPhenotype:0001637 Paper_evidence: WBPaper00001521
        Curator_confirmed: WBPerson2021
        Remark: skn-1 embryos also appear to lack an intestine (confirmed via antibody staining) and lack birefringent gut granules Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00001521
              Curator_confirmed: WBPerson2021
          Range: 14 46 Paper_evidence: WBPaper00001521
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001521
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001521
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: antibody staining with 2CB7(stains intestinal cells) Paper_evidence: WBPaper00001521
              Curator_confirmed: WBPerson2021
          Temperature: 15C, 25C Paper_evidence: WBPaper00001521
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001646 Paper_evidence: WBPaper00001521
        Curator_confirmed: WBPerson2021
        Remark: skn-1 mutant embryos do not contain any structures that morphologically resemble a pharynx (confirmed via antibody staining) Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00001521
              Curator_confirmed: WBPerson2021
          Range: 84 96 Paper_evidence: WBPaper00001521
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001521
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001521
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001521
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: antibody staining with 9.2.1(stains pharyngeal-specific muscle cells) Paper_evidence: WBPaper00001521
              Curator_confirmed: WBPerson2021
          Temperature: 15C, 25C Paper_evidence: WBPaper00001521
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00001521
    WBPaper00035964
    WBPaper00046170
  Method: Substitution_allele