WormBase Tree Display for Variation: WBVar00090268

WBVar00090268 Evidence: Paper_evidence: WBPaper00025002
  Name: Public_name: n1812
    Other_name: CE24779:p.Glu28Ter
      C02F4.1.1:c.82G>T
    HGVSg: CHROMOSOME_IV:g.10484249G>T
  Sequence_details: SMap: S_parent: Sequence: F01D4
    Flanking_sequences: ccgcttccatcttgtgatgctccacgatta aactttttattggcgatcgaatatgtgttt
    Mapping_target: F01D4
    Type_of_mutation: Substitution: g t Paper_evidence: WBPaper00025002
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027132
      WBStrain00027134
      WBStrain00027167
      WBStrain00027342
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00000419
    Transcript: C02F4.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C02F4.1.1:c.82G>T
        HGVSp: CE24779:p.Glu28Ter
        cDNA_position: 97
        CDS_position: 82
        Protein_position: 28
        Exon_number: 3/21
        Codon_change: Gaa/Taa
        Amino_acid_change: E/*
    Interactor (32)
  Genetics: Interpolated_map_position: IV 4.60586
    Mapping_data: In_multi_point: 1517
        1518
        1520
        1521
        1522
        1523
        1820
        1822
      In_pos_neg_data: 4243
  Description: Phenotype (13)
    Phenotype_not_observed: WBPhenotype:0000047 Paper_evidence: WBPaper00038341
        Curator_confirmed: WBPerson712
        Remark: Endodermal precursors became internalized at the 2E stage, as in wild-type embryos. | Ea/Ep internalize successfully in a likely null allele of ced-5, n1812. Paper_evidence: WBPaper00038341
            Curator_confirmed: WBPerson712
      WBPhenotype:0000072 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: no gross phenotype Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001656 Paper_evidence: WBPaper00003948
        Curator_confirmed: WBPerson712
        Remark: Initiating and maintaining a trajectory is normal. Paper_evidence: WBPaper00003948
            Curator_confirmed: WBPerson712
      WBPhenotype:0002067 Paper_evidence: WBPaper00040757
        Curator_confirmed: WBPerson712
        Remark: Closure speed in apical cell areas in ced-5(n1812) does not reach the speed found in wild-type embryos. Paper_evidence: WBPaper00040757
            Curator_confirmed: WBPerson712
      WBPhenotype:0002486 Paper_evidence: WBPaper00050421
        Curator_confirmed: WBPerson2987
        Remark: "Mutations in genes within the ced-1/6/7 pathway (ced-1, ced-7, nrf-5, ttr-52), the ced-2/5/12 pathway (ced-2, ced-5), or both pathways (ced-1;ced-2 and ced-7;ced-5) did not cause PGC lobes to persist in L1 larvae (Supplementary Table 1), indicating that ced-10 functions in PGC lobe scission in a different context than it does in cell corpse engulfment." (PGC = 'primordial germ cell') Paper_evidence: WBPaper00050421
            Curator_confirmed: WBPerson2987
        Variation_effect: Predicted_null_via_sequence: Paper_evidence: WBPaper00050421
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004576 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
            WBbt:0004575 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: All strains include the xnIs360 or xnSi1 transgenes to visualize PGC membranes. Paper_evidence: WBPaper00050421
              Curator_confirmed: WBPerson2987
  Reference (23)
  Method: Substitution_allele