|Institutional Source||Beutler Lab|
|Gene Name||carboxylesterase 1D|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8202 (G1)|
|Chromosomal Location||93166068-93197838 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 93192867 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 99 (E99G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034172 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034172]|
|Predicted Effect||probably benign
AA Change: E99G
PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: E99G
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased blood lipids, improved glucose tolerance, and increased energy expenditure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ces1d||
(F):5'- TGGTTGCCCATGAAGAGGTG -3'
(R):5'- ATGCATGGGAGAGTCTAGAGTC -3'
(F):5'- GGAGGCTGGAACTCAGATTTC -3'
(R):5'- GAGTCTAGAGTCTTAGTAGTTCCAC -3'