|Institutional Source||Beutler Lab|
|Gene Name||lipase, member I|
|Is this an essential gene?||Probably non essential (E-score: 0.075)|
|Stock #||R2045 (G1)|
|Chromosomal Location||75540514-75586061 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 75550199 bp|
|Amino Acid Change||Threonine to Isoleucine at position 444 (T444I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053447 (fasta)|
|Predicted Effect||probably damaging
AA Change: T444I
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0873|
|Coding Region Coverage||
|Validation Efficiency||100% (74/74)|
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'- GCTTAGACAATGTGACTCTAGACTG -3'
(R):5'- TACTTAGGAAGAGCAAGCCATTTG -3'
(F):5'- TAGACTGTCCTAAGTATCCCTCAAG -3'
(R):5'- TAGGAAGAGCAAGCCATTTGATAATC -3'