|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7757 (G1)|
|Chromosomal Location||73635808-73708415 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 73701121 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 324 (D324V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029367 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029367] [ENSMUST00000138216]|
AA Change: D324V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D324V
|Meta Mutation Damage Score||0.9644|
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bche||
(F):5'- ATCTGCTCACTCCAGGGAAATAC -3'
(R):5'- TGGGCAGTAAAGCATCCTGAG -3'
(F):5'- ACTCCAGGGAAATACATATTTAAACC -3'
(R):5'- TAAAGCATCCTGAGGAAGCC -3'