|Institutional Source||Beutler Lab|
|Gene Name||lipase, member I|
|Is this an essential gene?||Probably non essential (E-score: 0.093)|
|Stock #||R7587 (G1)|
|Chromosomal Location||75540514-75586061 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 75550215 bp (GRCm38)|
|Amino Acid Change||Valine to Methionine at position 439 (V439M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053447 (fasta)|
AA Change: V439M
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|Meta Mutation Damage Score||0.0846|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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'- ACTGTCCTAAGTATCCCTCAAGTC -3'
(R):5'- AAAAGTGCCCTCTGGGTTCTG -3'
(F):5'- CCAACATTTGTGCCCATA -3'
(R):5'- TGGGTTCTGCCTCATTATTACTATAC -3'