Bche - SNV Details



 Human Rare Diseases 
Butyrylcholinesterase deficiency

 Gene Information 
Gene Name Bche
Old Gene Names for Bche C730038g20rik
Gene Description butyrylcholinesterase [Source:MGI Symbol;Acc:MGI:894278]
MGI phenotype Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities.
Uniprot Name
CCDS Name
Gene GO
membrane; choline binding; hydrolase activity; negative regulation of synaptic transmission; endoplasmic reticulum; response to folic acid; nuclear envelope lumen; metabolic process; negative regulation of cell proliferation; endoplasmic reticulum lumen; response to alkaloid; response to drug; acetylcholinesterase activity; identical protein binding; learning; synaptic transmission
cholinergic; extracellular space; neuroblast differentiation; response to nutrient; blood microparticle; response to glucocorticoid; cholinesterase activity; choline metabolic process; carboxylic ester hydrolase activity
Homolog in other species BCHE
Omim http://omim.org/entry/177400
Immgen Expression
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027792
Chromosome 3
Coordinate 73,701,307     (Assembly: GRCm38)    
Ref Base A
Codon Change gTa/gCa
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.69
G:V0.31
Amino Acid Position 262
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL00338
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.35
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved