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WormBase Tree Display for Variation: WBVar00143004

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Name Class

WBVar00143004EvidencePerson_evidenceWBPerson261
WBPerson2629
NamePublic_namee164
Other_nameCE11066:p.Gln189Ter
F54D8.1.1:c.565C>T
HGVSgCHROMOSOME_III:g.5107949C>T
Sequence_detailsSMapS_parentSequenceF54D8
Flanking_sequencesgacggagaagatgctgatgatgccaaggctagactcaacaatacgatggatgcttcactt
Mapping_targetF54D8
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00000753
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
LaboratoryCB
UP
StatusLive
AffectsGeneWBGene00001076
TranscriptF54D8.1.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF54D8.1.1:c.565C>T
HGVSpCE11066:p.Gln189Ter
cDNA_position568
CDS_position565
Protein_position189
Exon_number3/4
Codon_changeCag/Tag
Amino_acid_changeQ/*
InteractorWBInteraction000502314
WBInteraction000537325
GeneticsInterpolated_map_positionIII-2.13511
Mapping_dataIn_2_point61
62
274
402
406
487
564
591
598
628
702
708
716
717
731
733
1628
2714
3801
3809
4702
5221
6009
6013
6035
6039
6052
6053
6054
In_multi_point68
315
324
325
376
377
378
429
488
491
492
498
502
506
513
580
585
589
600
611
613
629
630
729
746
754
862
863
865
868
871
877
895
1078
1089
1251
1363
1405
1407
1412
1413
1415
1419
1421
1489
1491
1492
1496
1497
1499
1500
1503
1504
1623
1624
1634
1637
1669
1726
1736
1754
1755
1817
1850
1851
1853
2007
2012
2013
2018
2055
2075
2077
2078
2079
2081
2082
2083
2084
2085
2099
2100
2102
2104
2108
2151
2178
2179
2223
2224
2225
2242
2243
2245
2247
2304
2305
2307
2308
2312
2425
2692
2706
2740
2741
2742
2744
2755
2760
2761
2791
2799
2800
3015
3110
3138
3166
3191
3206
3217
3218
3219
3223
3224
3225
3235
3297
3298
3299
3300
3301
3302
3304
3324
3325
3326
3327
3328
3329
3330
3331
3332
3333
3334
3335
3336
3337
3338
3339
3340
In_pos_neg_data1578
1582
1586
1596
1616
3244
DescriptionPhenotypeWBPhenotype:0000035Paper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0000572Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarklow penetrance defects in outgrowth of posterior canal cell processesPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000583Paper_evidenceWBPaper00000031
WBPaper00032031
WBPaper00005747
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
WBPerson2987
RemarkAnimals are morphologically similar to dpy-9.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
medium dumpy, spindle-shaped adult; old adults sometimes less dumpy; strong dumpy L1Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Authors report "medium dpy" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
kaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000961Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001412Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "severe disruption with branching" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001517Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "severe disruption" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000062Paper_evidenceWBPaper00006477
Curator_confirmedWBPerson712
Remark98.9% animals hatch (n=284).Paper_evidenceWBPaper00006477
Curator_confirmedWBPerson712
WBPhenotype:0000535Paper_evidenceWBPaper00006477
Curator_confirmedWBPerson712
Remark100% hatched animals have normal body morphology.Paper_evidenceWBPaper00006477
Curator_confirmedWBPerson712
WBPhenotype:0000717Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
RemarkAnimals exhibited levels of pnlp-29::GFP similar to wild-type controls under normal culture conditions.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
Phenotype_assayGenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
WBPhenotype:0000876Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
RemarkAnimals are no more resistant to high salt than wild-type worms.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
Phenotype_assayGenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
WBPhenotype:0001014Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
RemarkAnimals were as susceptible to D. coniospora infection as wild type worms.Paper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
Phenotype_assayTreatmentInfections 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_evidenceWBPaper00032031
Curator_confirmedWBPerson712
GenotypePnlp-29::GFPPaper_evidenceWBPaper00032031
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
ReferenceWBPaper00015337
WBPaper00029020
WBPaper00000031
WBPaper00004883
WBPaper00015392
WBPaper00005747
WBPaper00021761
WBPaper00016554
WBPaper00013833
WBPaper00032031
WBPaper00014685
WBPaper00013805
WBPaper00014306
WBPaper00006477
WBPaper00015352
WBPaper00014860
WBPaper00017567
WBPaper00061175
WBPaper00065282
WBPaper00066006
RemarkVariation stub/paper connection generated from the May 2021 NN VFP dataset.
Created by WBPerson51134 from the NN_VFP_triage_pipeline
MethodSubstitution_allele