WormBase Tree Display for Variation: WBVar00143004

WBVar00143004 Evidence: Person_evidence: WBPerson261
      WBPerson2629
  Name: Public_name: e164
    Other_name: CE11066:p.Gln189Ter
      F54D8.1.1:c.565C>T
    HGVSg: CHROMOSOME_III:g.5107949C>T
  Sequence_details: SMap: S_parent: Sequence: F54D8
    Flanking_sequences: gacggagaagatgctgatgatgccaaggct agactcaacaatacgatggatgcttcactt
    Mapping_target: F54D8
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000753
      WBStrain00000754
      WBStrain00000755
      WBStrain00000756
      WBStrain00000757
      WBStrain00000758
      WBStrain00000759
      WBStrain00000760
      WBStrain00000761
      WBStrain00000762
      WBStrain00000763
      WBStrain00000764
      WBStrain00000765
      WBStrain00000766
      WBStrain00000767
      WBStrain00000768
      WBStrain00000769
      WBStrain00000770
      WBStrain00000771
      WBStrain00000772
      WBStrain00000773
      WBStrain00000774
      WBStrain00000775
      WBStrain00000776
      WBStrain00000777
      WBStrain00000778
      WBStrain00000779
      WBStrain00000780
      WBStrain00000781
      WBStrain00000782
      WBStrain00000783
      WBStrain00000784
      WBStrain00000785
      WBStrain00000786
      WBStrain00000787
      WBStrain00000788
      WBStrain00000789
      WBStrain00000790
      WBStrain00000791
      WBStrain00000792
      WBStrain00000793
      WBStrain00000794
      WBStrain00000795
      WBStrain00000796
      WBStrain00000797
      WBStrain00000798
      WBStrain00000799
      WBStrain00000800
      WBStrain00000801
      WBStrain00000802
      WBStrain00000803
      WBStrain00000804
      WBStrain00000805
      WBStrain00000806
      WBStrain00000807
      WBStrain00000808
      WBStrain00000809
      WBStrain00000810
      WBStrain00000811
      WBStrain00000812
      WBStrain00000813
      WBStrain00000814
      WBStrain00000829
      WBStrain00000831
      WBStrain00000844
      WBStrain00000846
      WBStrain00000856
      WBStrain00000861
      WBStrain00000862
      WBStrain00000863
      WBStrain00000864
      WBStrain00000865
      WBStrain00000866
      WBStrain00000867
      WBStrain00000868
      WBStrain00000869
      WBStrain00000870
      WBStrain00000871
      WBStrain00000872
      WBStrain00000873
      WBStrain00000874
      WBStrain00000875
      WBStrain00000876
      WBStrain00000877
      WBStrain00000878
      WBStrain00000879
      WBStrain00000880
      WBStrain00000881
      WBStrain00000882
      WBStrain00000883
      WBStrain00000884
      WBStrain00000885
      WBStrain00000886
      WBStrain00000887
      WBStrain00000888
      WBStrain00000889
      WBStrain00000890
      WBStrain00000891
      WBStrain00000892
      WBStrain00000893
      WBStrain00000894
      WBStrain00000895
      WBStrain00000896
      WBStrain00000897
      WBStrain00000898
      WBStrain00000899
      WBStrain00000900
      WBStrain00000901
      WBStrain00000902
      WBStrain00000903
      WBStrain00000904
      WBStrain00000905
      WBStrain00000906
      WBStrain00000907
      WBStrain00000908
      WBStrain00000909
      WBStrain00000910
      WBStrain00000911
      WBStrain00000912
      WBStrain00000913
      WBStrain00000941
      WBStrain00000962
      WBStrain00003987
      WBStrain00004005
      WBStrain00004115
      WBStrain00004752
      WBStrain00004949
      WBStrain00004976
      WBStrain00004995
      WBStrain00004996
      WBStrain00004998
      WBStrain00005231
      WBStrain00006390
      WBStrain00006436
      WBStrain00006455
      WBStrain00007477
      WBStrain00007478
      WBStrain00007988
      WBStrain00007990
      WBStrain00007992
      WBStrain00007995
      WBStrain00008002
      WBStrain00008010
      WBStrain00008015
      WBStrain00008456
      WBStrain00022157
      WBStrain00022516
      WBStrain00022521
      WBStrain00022524
      WBStrain00022526
      WBStrain00022539
      WBStrain00022766
      WBStrain00026585
      WBStrain00026641
      WBStrain00026646
      WBStrain00026647
      WBStrain00026665
      WBStrain00026667
      WBStrain00026695
      WBStrain00026739
      WBStrain00026741
      WBStrain00026751
      WBStrain00026752
      WBStrain00026753
      WBStrain00026755
      WBStrain00026756
      WBStrain00026757
      WBStrain00026803
      WBStrain00026964
      WBStrain00026977
      WBStrain00027060
      WBStrain00027068
      WBStrain00027085
      WBStrain00027095
      WBStrain00027111
      WBStrain00027139
      WBStrain00027181
      WBStrain00027202
      WBStrain00027244
      WBStrain00027313
      WBStrain00027327
      WBStrain00027607
      WBStrain00027608
      WBStrain00028985
      WBStrain00029348
      WBStrain00029349
      WBStrain00030879
      WBStrain00033370
      WBStrain00033506
      WBStrain00033910
      WBStrain00033911
      WBStrain00033912
      WBStrain00034244
      WBStrain00034477
      WBStrain00034478
      WBStrain00034484
      WBStrain00035109
      WBStrain00040210
      WBStrain00040418
      WBStrain00047380
      WBStrain00057350
    Laboratory: CB
      UP
    Status: Live
  Affects: Gene: WBGene00001076
    Transcript: F54D8.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F54D8.1.1:c.565C>T
        HGVSp: CE11066:p.Gln189Ter
        cDNA_position: 568
        CDS_position: 565
        Protein_position: 189
        Exon_number: 3/4
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000502314
      WBInteraction000537325
  Genetics: Interpolated_map_position: III -2.13511
    Mapping_data: In_2_point (29)
      In_multi_point (150)
      In_pos_neg_data: 1578
        1582
        1586
        1596
        1616
        3244
  Description: Phenotype: WBPhenotype:0000035 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0000572 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: low penetrance defects in outgrowth of posterior canal cell processes Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00000031
          WBPaper00032031
          WBPaper00005747
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
          WBPerson2987
        Remark: Animals are morphologically similar to dpy-9. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
          medium dumpy, spindle-shaped adult; old adults sometimes less dumpy; strong dumpy L1 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Authors report "medium dpy" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
            kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001412 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "severe disruption with branching" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001517 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "severe disruption" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00006477
        Curator_confirmed: WBPerson712
        Remark: 98.9% animals hatch (n=284). Paper_evidence: WBPaper00006477
            Curator_confirmed: WBPerson712
      WBPhenotype:0000535 Paper_evidence: WBPaper00006477
        Curator_confirmed: WBPerson712
        Remark: 100% hatched animals have normal body morphology. Paper_evidence: WBPaper00006477
            Curator_confirmed: WBPerson712
      WBPhenotype:0000717 Paper_evidence: WBPaper00032031
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited levels of pnlp-29::GFP similar to wild-type controls under normal culture conditions. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
      WBPhenotype:0000876 Paper_evidence: WBPaper00032031
        Curator_confirmed: WBPerson712
        Remark: Animals are no more resistant to high salt than wild-type worms. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
      WBPhenotype:0001014 Paper_evidence: WBPaper00032031
        Curator_confirmed: WBPerson712
        Remark: Animals were as susceptible to D. coniospora infection as wild type worms. Paper_evidence: WBPaper00032031
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Infections with a freshly harvested solution of D. coniospora spores were done as described [65]; worms were analyzed after 24 h at 25C. Worms were pricked in the tail region using a microinjection needle under a dissecting microscope and analyzed 6 h later for GFP induction or 2 hours later for qRT-PCR. Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
          Genotype: Pnlp-29::GFP Paper_evidence: WBPaper00032031
              Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference (20)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele