Incidental Mutation 'IGL01863:Lipi'
ID 178427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipi
Ensembl Gene ENSMUSG00000032948
Gene Name lipase, member I
Synonyms D930038D03Rik, lpd1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01863
Quality Score
Status
Chromosome 16
Chromosomal Location 75337402-75382949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 75347114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 435 (I435R)
Ref Sequence ENSEMBL: ENSMUSP00000053447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062721]
AlphaFold F6YQT7
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: 42,215,907 (GRCm39) I326F possibly damaging Het
Aimp1 T C 3: 132,377,853 (GRCm39) T171A probably benign Het
Ash1l T A 3: 88,892,813 (GRCm39) L1564* probably null Het
Atp1a1 G T 3: 101,499,205 (GRCm39) Y131* probably null Het
Celsr2 T C 3: 108,301,338 (GRCm39) E2686G probably benign Het
Cyp4f18 A G 8: 72,743,770 (GRCm39) V395A possibly damaging Het
Dnaaf11 A T 15: 66,268,823 (GRCm39) probably benign Het
Ephb2 T C 4: 136,387,088 (GRCm39) Q713R probably benign Het
Esf1 A T 2: 139,962,599 (GRCm39) M824K probably benign Het
Fat4 T C 3: 39,024,768 (GRCm39) probably benign Het
Gem A G 4: 11,705,980 (GRCm39) I23V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Il6st A G 13: 112,640,744 (GRCm39) E779G possibly damaging Het
Lama3 T A 18: 12,552,993 (GRCm39) probably benign Het
Odad2 T C 18: 7,222,617 (GRCm39) T551A probably damaging Het
Omg C T 11: 79,393,050 (GRCm39) M269I probably benign Het
Optn A T 2: 5,026,298 (GRCm39) probably benign Het
Or5ae2 T C 7: 84,505,619 (GRCm39) L14P probably damaging Het
Pex1 A G 5: 3,656,066 (GRCm39) T298A probably benign Het
Rab27b T A 18: 70,122,625 (GRCm39) R111S probably damaging Het
Rhbdf1 T G 11: 32,163,484 (GRCm39) E329D probably benign Het
Slc2a13 T C 15: 91,400,695 (GRCm39) I176V probably benign Het
Slc30a1 T A 1: 191,641,196 (GRCm39) C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 (GRCm38) C509S probably damaging Het
Slfn9 T C 11: 82,872,151 (GRCm39) R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 (GRCm39) I782T possibly damaging Het
Tent5c C T 3: 100,379,980 (GRCm39) D259N probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b T C 7: 79,924,059 (GRCm39) probably null Het
Wrap73 A G 4: 154,229,790 (GRCm39) I54V probably benign Het
Other mutations in Lipi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Lipi APN 16 75,347,254 (GRCm39) splice site probably benign
R1690:Lipi UTSW 16 75,338,013 (GRCm39) missense probably damaging 1.00
R2045:Lipi UTSW 16 75,347,087 (GRCm39) missense probably damaging 0.98
R4001:Lipi UTSW 16 75,370,759 (GRCm39) nonsense probably null
R4387:Lipi UTSW 16 75,370,843 (GRCm39) missense probably damaging 1.00
R4613:Lipi UTSW 16 75,357,689 (GRCm39) missense probably benign 0.01
R4680:Lipi UTSW 16 75,362,417 (GRCm39) critical splice donor site probably null
R5420:Lipi UTSW 16 75,352,757 (GRCm39) missense possibly damaging 0.82
R5503:Lipi UTSW 16 75,370,864 (GRCm39) missense probably benign 0.11
R5773:Lipi UTSW 16 75,370,813 (GRCm39) missense probably damaging 1.00
R5813:Lipi UTSW 16 75,370,798 (GRCm39) missense possibly damaging 0.91
R6312:Lipi UTSW 16 75,370,803 (GRCm39) missense probably damaging 1.00
R6559:Lipi UTSW 16 75,337,982 (GRCm39) missense probably benign 0.31
R7587:Lipi UTSW 16 75,347,103 (GRCm39) missense probably benign 0.00
R7639:Lipi UTSW 16 75,357,743 (GRCm39) missense probably benign 0.03
R8079:Lipi UTSW 16 75,362,418 (GRCm39) critical splice donor site probably null
R8256:Lipi UTSW 16 75,370,950 (GRCm39) missense probably benign 0.00
R8475:Lipi UTSW 16 75,370,862 (GRCm39) missense probably benign 0.00
R8855:Lipi UTSW 16 75,355,481 (GRCm39) missense probably damaging 1.00
R8888:Lipi UTSW 16 75,352,710 (GRCm39) missense probably benign 0.05
R8895:Lipi UTSW 16 75,352,710 (GRCm39) missense probably benign 0.05
R9112:Lipi UTSW 16 75,359,159 (GRCm39) missense probably damaging 1.00
R9182:Lipi UTSW 16 75,357,673 (GRCm39) nonsense probably null
R9198:Lipi UTSW 16 75,362,461 (GRCm39) missense possibly damaging 0.60
R9601:Lipi UTSW 16 75,352,706 (GRCm39) missense possibly damaging 0.94
R9658:Lipi UTSW 16 75,357,689 (GRCm39) missense probably benign 0.01
X0017:Lipi UTSW 16 75,347,243 (GRCm39) missense probably benign 0.00
X0019:Lipi UTSW 16 75,352,703 (GRCm39) missense probably benign
Z1177:Lipi UTSW 16 75,347,175 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07