|Institutional Source||Beutler Lab|
|Gene Name||lipase, member I|
|Is this an essential gene?||Probably non essential (E-score: 0.105)|
|Stock #||R6312 (G1)|
|Chromosomal Location||75540514-75586061 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75573915 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 138 (Y138F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053447 (fasta)|
|Predicted Effect||probably damaging
AA Change: Y138F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit postnatal lethality, tremors, abnormal gait, decreased body weight, retarded hair growth, and a defect in triglyceride metabolism resulting in hypertriglyceridemia and hepatic steatosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lipi||
(F):5'- GTTAAAGTTCCAACTGCTTACGG -3'
(R):5'- CTGATGTACTCAAGGGGCAAC -3'
(F):5'- GTTCCAACTGCTTACGGAAAAAG -3'
(R):5'- CAAGTGTGCAGAGCCACTCTTTG -3'