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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_details (5)
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (201)
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_point (29)
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
Reference (20)
RemarkVariation stub/paper connection generated from the May 2021 NN VFP dataset.
Created by WBPerson51134 from the NN_VFP_triage_pipeline
MethodSubstitution_allele