|Institutional Source||Beutler Lab|
|Gene Name||carboxylesterase 1G|
|Synonyms||Ses-1, Ces1, Ces-1|
|Is this an essential gene?||Probably non essential (E-score: 0.065)|
|Stock #||R3052 (G1)|
|Chromosomal Location||93302369-93337308 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 93335048 bp|
|Amino Acid Change||Valine to Leucine at position 77 (V77L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037555 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044602]|
|Predicted Effect||possibly damaging
AA Change: V77L
PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: V77L
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
|MGI Phenotype||FUNCTION: 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. The expression and activity of this gene is age-related but independent of growth hormone level. This gene is clustered with Ces7 and Ces3 on chromosome 8. [provided by RefSeq, Jun 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ces1g||
(F):5'- GCAAAAGTCATTTAAGACCCACATG -3'
(R):5'- TCTCTTGTCAAACAGGACACCC -3'
(F):5'- TGATGCCCACTTGGTGAAAC -3'
(R):5'- CATCCTTACCGCCTGTGGTAC -3'