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WormBase Tree Display for Variation: WBVar00142948

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Name Class

WBVar00142948EvidencePaper_evidenceWBPaper00001431
Person_evidenceWBPerson267
NamePublic_namee73
Other_nameCE09197:p.Glu342Lys
F07A5.7a.2:c.1024G>A
F07A5.7b.1:c.67G>A
F07A5.7a.1:c.1024G>A
CE42754:p.Glu23Lys
HGVSgCHROMOSOME_I:g.7379262C>T
Sequence_detailsSMapS_parentSequenceF07A5
Flanking_sequencesgagatcatgctccagaagatttctcaactcagaaggccaagtctcgtcttcaatctgagg
Mapping_targetF07A5
Type_of_mutationSubstitutionGA
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (35)
LaboratoryCB
StatusLive
AffectsGeneWBGene00006754
TranscriptF07A5.7a.1 (12)
F07A5.7a.2 (12)
F07A5.7b.1 (12)
InteractorWBInteraction000518394
WBInteraction000518614
WBInteraction000518905
IsolationMutagenEMS
Forward_geneticsstandard phenotypic screen
GeneticsInterpolated_map_positionI2.05567
Mapping_dataIn_2_point13
238
516
1017
In_multi_point (14)
In_pos_neg_data515
2518
4992
4999
5003
5345
DescriptionPhenotypeWBPhenotype:0000349Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarklimp paralysed phenotypePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000509Paper_evidenceWBPaper00000536
Curator_confirmedWBPerson712
RemarkOnly 3.1% of the sperm have pseudopods, a few of which are smooth.Paper_evidenceWBPaper00000536
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006798PATO:0000460Paper_evidenceWBPaper00000536
Curator_confirmedWBPerson712
WBPhenotype:0000640Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkEglPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000644Paper_evidenceWBPaper00000031
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
Remarklimp paralysed phenotype, larvae move slightly betterPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000646Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarke73/+ slightly slowPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
DominantPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000782Paper_evidenceWBPaper00027179
Curator_confirmedWBPerson5
WBPhenotype:0000861Paper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
Remarkdefect in body muscle cellsPaper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0000926Paper_evidenceWBPaper00000031
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
Remarkdefect in body muscle cellsPaper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
disorganized muscle structurePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001292Paper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
Remarkdefect in body muscle cellsPaper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0001889Paper_evidenceWBPaper00027179
Curator_confirmedWBPerson5
Reference (31)
RemarkManually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006754 Missense 342 E to K
MethodSubstitution_allele