|Institutional Source||Beutler Lab|
|Gene Name||lipase, gastric|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R5619 (G1)|
|Chromosomal Location||33961187-33976810 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 33966892 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 167 (Y167F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025680 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025680]|
|Predicted Effect||possibly damaging
AA Change: Y167F
PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: Y167F
|Meta Mutation Damage Score||0.074|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lipf||
(F):5'- ATGTGGGCCTAAGAACCAGG -3'
(R):5'- CCTTTGGATGGAGTTGATGCCAC -3'
(F):5'- TGGGCCTAAGAACCAGGTTGAG -3'
(R):5'- TACTGTTTGATTTATCCATCTCTGGG -3'