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WormBase Tree Display for Variation: WBVar00143019

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Name Class

WBVar00143019EvidencePaper_evidenceWBPaper00005152
WBPaper00005325
NamePublic_namee185
Other_nameCE54061:p.Cys185Tyr
F48E8.1a.1:c.554G>A
F48E8.1c.1:c.554G>A
CE01953:p.Cys185Tyr
F48E8.1b.1:c.554G>A
CE29046:p.Cys185Tyr
HGVSgCHROMOSOME_III:g.5476405G>A
Sequence_detailsSMapS_parentSequenceF48E8
Flanking_sequencesttgtctgggcaaagacgaatctcgtcggatcggcttctcccgttgccgtgacgttcaggg
Mapping_targetF48E8
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (17)
LaboratoryCB
StatusLive
AffectsGeneWBGene00003055
TranscriptF48E8.1b.1 (12)
F48E8.1c.1 (12)
F48E8.1a.1 (12)
InteractorWBInteraction000009116
WBInteraction000503035
WBInteraction000537301
GeneticsInterpolated_map_positionIII-1.62777
Mapping_dataIn_2_point276
579
2725
3796
3797
5516
6014
7160
In_multi_point (62)
In_pos_neg_data803
1590
DescriptionPhenotypeWBPhenotype:0000022Paper_evidenceWBPaper00000031
WBPaper00000906
WBPaper00003454
WBPaper00005747
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
WBPerson2987
Remarkabout 50% longer than wildtype at all stages, markedly tapering tail and headPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Table 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00000906
Curator_confirmedWBPerson712
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000342Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkMale bursa elongated.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000370Paper_evidenceWBPaper00053410
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson3569
RemarkEggs elongated.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Figure 2, S1Paper_evidenceWBPaper00053410
Curator_confirmedWBPerson3569
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 "multiple or discontinuous ala" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001517Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "abnormal branched annuli (lateral hypodermis)" and "wide annuli" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0002117Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarklow penetrance tendency to form constriction behind head, may result in auto-decapitationPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000505Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkMales are not Ram.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0001184Paper_evidenceWBPaper00032966
Curator_confirmedWBPerson2021
RemarkAbnormally sized mutants did not display enhanced fat accumulationPaper_evidenceWBPaper00032966
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentNile Red stainingPaper_evidenceWBPaper00032966
Curator_confirmedWBPerson2021
Reference (12)
RemarkVariation stub/paper connection generated from the May 2021 NN VFP dataset.
Created by WBPerson51134 from the NN_VFP_triage_pipeline
MethodSubstitution_allele