WormBase Tree Display for Variation: WBVar00241132

WBVar00241132 Evidence: Person_evidence: WBPerson19575
  Name: Public_name: q490
    Other_name: CE15998:p.Gln99Ter
      F38A6.1c.1:c.10C>T
      F38A6.1b.1:c.103C>T
      CE40229:p.Gln4Ter
      CE40228:p.Gln35Ter
      F38A6.1a.1:c.295C>T
    HGVSg: CHROMOSOME_V:g.20756922C>T
  Sequence_details: SMap: S_parent: Sequence: F38A6
    Flanking_sequences: CAATTTTTTTCTTGCAGGCCATGAACGCT aggactatctgccgacgtattctaatacta
    Mapping_target: F38A6
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022556
    Laboratory: JK
    Status: Live
  Affects: Gene: WBGene00004013
    Transcript: F38A6.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F38A6.1c.1:c.10C>T
        HGVSp: CE40229:p.Gln4Ter
        cDNA_position: 13
        CDS_position: 10
        Protein_position: 4
        Exon_number: 2/8
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      F38A6.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F38A6.1b.1:c.103C>T
        HGVSp: CE40228:p.Gln35Ter
        cDNA_position: 103
        CDS_position: 103
        Protein_position: 35
        Exon_number: 2/7
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      F38A6.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F38A6.1a.1:c.295C>T
        HGVSp: CE15998:p.Gln99Ter
        cDNA_position: 295
        CDS_position: 295
        Protein_position: 99
        Exon_number: 3/9
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000520187
      WBInteraction000555237
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: V 25.1021
  Description: Phenotype: WBPhenotype:0000242 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: most embryos fail to elongate Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000347 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: some rectal cells often missing Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005773 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000617 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: intestine not connected to rectum Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005772 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0005773 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000675 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: zygotic lethal, q490/Df similar Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000867 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: embryonic arrest with no pharynx Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: no pharynx Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001689 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: absence of pharyngeal antigens Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005459 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000961 Paper_evidence: WBPaper00003331
        Curator_confirmed: WBPerson2987
        Remark: The pha-4(q490) mutation did not affect the expression of transgenic ges-1(delta B) in the embryonic anterior gut (Figure 5b). Paper_evidence: WBPaper00003331
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: ges-1(delta B)::lacZ Paper_evidence: WBPaper00003331
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00003331
    WBPaper00022417
    WBPaper00011730
    WBPaper00003134
  Remark: reported in Horner et al., 1998 Paper_evidence: WBPaper00003134
      Person_evidence: WBPerson19575
      Curator_confirmed: WBPerson51134
    Variation information submitted by WBPerson19575 on 2022-04-29_08:27:18 via the Allele submission form. Curator_confirmed: WBPerson51134
    alt_det = C->T mut_det = gln99->Stop Paper_evidence: WBPaper00003134
      Person_evidence: WBPerson19575
      Curator_confirmed: WBPerson51134
  Method: Substitution_allele