WormBase Tree Display for Variation: WBVar00142948
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WBVar00142948 | Evidence | Paper_evidence | WBPaper00001431 | ||||||
---|---|---|---|---|---|---|---|---|---|
Person_evidence | WBPerson267 | ||||||||
Name | Public_name | e73 | |||||||
Other_name | CE09197:p.Glu342Lys | ||||||||
F07A5.7a.2:c.1024G>A | |||||||||
F07A5.7b.1:c.67G>A | |||||||||
F07A5.7a.1:c.1024G>A | |||||||||
CE42754:p.Glu23Lys | |||||||||
HGVSg | CHROMOSOME_I:g.7379262C>T | ||||||||
Sequence_details (5) | |||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain (35) | |||||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00006754 | |||||||
Transcript | F07A5.7a.1 (12) | ||||||||
F07A5.7a.2 (12) | |||||||||
F07A5.7b.1 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0 | deleterious | |||||||
PolyPhen | 0.995 | probably_damaging | |||||||
HGVSc | F07A5.7b.1:c.67G>A | ||||||||
HGVSp | CE42754:p.Glu23Lys | ||||||||
cDNA_position | 67 | ||||||||
CDS_position | 67 | ||||||||
Protein_position | 23 | ||||||||
Exon_number | 1/4 | ||||||||
Codon_change | Gag/Aag | ||||||||
Amino_acid_change | E/K | ||||||||
Interactor | WBInteraction000518394 | ||||||||
WBInteraction000518614 | |||||||||
WBInteraction000518905 | |||||||||
Isolation | Mutagen | EMS | |||||||
Forward_genetics | standard phenotypic screen | ||||||||
Genetics (2) | |||||||||
Description | Phenotype | WBPhenotype:0000349 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | limp paralysed phenotype | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000509 | Paper_evidence | WBPaper00000536 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Only 3.1% of the sperm have pseudopods, a few of which are smooth. | Paper_evidence | WBPaper00000536 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006798 | PATO:0000460 | Paper_evidence | WBPaper00000536 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000640 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Egl | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000644 | Paper_evidence | WBPaper00000031 | |||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPerson712 | |||||||||
Remark | limp paralysed phenotype, larvae move slightly better | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | e73/+ slightly slow | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Dominant | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000782 | Paper_evidence | WBPaper00027179 | |||||||
Curator_confirmed | WBPerson5 | ||||||||
WBPhenotype:0000861 | Paper_evidence | WBPaper00000031 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0000926 | Paper_evidence | WBPaper00000031 | |||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPerson712 | |||||||||
Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
disorganized muscle structure | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001292 | Paper_evidence | WBPaper00000031 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | defect in body muscle cells | Paper_evidence | WBPaper00000031 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0001889 | Paper_evidence | WBPaper00027179 | |||||||
Curator_confirmed | WBPerson5 | ||||||||
Reference (31) | |||||||||
Remark | Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006754 Missense 342 E to K | ||||||||
Method | Substitution_allele |