Incidental Mutation 'IGL01863:Lipi'
ID178427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipi
Ensembl Gene ENSMUSG00000032948
Gene Namelipase, member I
Synonymslpd1, D930038D03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01863
Quality Score
Status
Chromosome16
Chromosomal Location75540514-75586061 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 75550226 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Arginine at position 435 (I435R)
Ref Sequence ENSEMBL: ENSMUSP00000053447 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000062721
AA Change: I435R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186809
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,339,911 I326F possibly damaging Het
Aimp1 T C 3: 132,672,092 T171A probably benign Het
Armc4 T C 18: 7,222,617 T551A probably damaging Het
Ash1l T A 3: 88,985,506 L1564* probably null Het
Atp1a1 G T 3: 101,591,889 Y131* probably null Het
Celsr2 T C 3: 108,394,022 E2686G probably benign Het
Cyp4f18 A G 8: 71,989,926 V395A possibly damaging Het
Ephb2 T C 4: 136,659,777 Q713R probably benign Het
Esf1 A T 2: 140,120,679 M824K probably benign Het
Fam46c C T 3: 100,472,664 D259N probably benign Het
Fat4 T C 3: 38,970,619 probably benign Het
Gem A G 4: 11,705,980 I23V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Il6st A G 13: 112,504,210 E779G possibly damaging Het
Lama3 T A 18: 12,419,936 probably benign Het
Lrrc6 A T 15: 66,396,974 probably benign Het
Olfr291 T C 7: 84,856,411 L14P probably damaging Het
Omg C T 11: 79,502,224 M269I probably benign Het
Optn A T 2: 5,021,487 probably benign Het
Pex1 A G 5: 3,606,066 T298A probably benign Het
Rab27b T A 18: 69,989,554 R111S probably damaging Het
Rhbdf1 T G 11: 32,213,484 E329D probably benign Het
Slc2a13 T C 15: 91,516,492 I176V probably benign Het
Slc30a1 T A 1: 191,909,084 C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 C509S probably damaging Het
Slfn9 T C 11: 82,981,325 R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 I782T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b T C 7: 80,274,311 probably null Het
Wrap73 A G 4: 154,145,333 I54V probably benign Het
Other mutations in Lipi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Lipi APN 16 75550366 splice site probably benign
R1690:Lipi UTSW 16 75541125 missense probably damaging 1.00
R2045:Lipi UTSW 16 75550199 missense probably damaging 0.98
R4001:Lipi UTSW 16 75573871 nonsense probably null
R4387:Lipi UTSW 16 75573955 missense probably damaging 1.00
R4613:Lipi UTSW 16 75560801 missense probably benign 0.01
R4680:Lipi UTSW 16 75565529 critical splice donor site probably null
R5420:Lipi UTSW 16 75555869 missense possibly damaging 0.82
R5503:Lipi UTSW 16 75573976 missense probably benign 0.11
R5773:Lipi UTSW 16 75573925 missense probably damaging 1.00
R5813:Lipi UTSW 16 75573910 missense possibly damaging 0.91
R6312:Lipi UTSW 16 75573915 missense probably damaging 1.00
R6559:Lipi UTSW 16 75541094 missense probably benign 0.31
R7587:Lipi UTSW 16 75550215 missense probably benign 0.00
R7639:Lipi UTSW 16 75560855 missense probably benign 0.03
R8079:Lipi UTSW 16 75565530 critical splice donor site probably null
R8256:Lipi UTSW 16 75574062 missense probably benign 0.00
X0017:Lipi UTSW 16 75550355 missense probably benign 0.00
X0019:Lipi UTSW 16 75555815 missense probably benign
Z1177:Lipi UTSW 16 75550287 missense probably benign 0.01
Posted On2014-05-07