Incidental Mutation 'IGL00234:Lipc'
ID2282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipc
Ensembl Gene ENSMUSG00000032207
Gene Namelipase, hepatic
SynonymsHpl, HL
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL00234
Quality Score
Status
Chromosome9
Chromosomal Location70798128-70952226 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70820437 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 43 (Y43N)
Ref Sequence ENSEMBL: ENSMUSP00000149185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034731] [ENSMUST00000214995] [ENSMUST00000216798]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034731
AA Change: Y128N

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: Y128N

DomainStartEndE-ValueType
Pfam:Lipase 14 350 1.1e-136 PFAM
LH2 353 488 4.62e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215814
Predicted Effect possibly damaging
Transcript: ENSMUST00000216798
AA Change: Y43N

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated plasma total cholesterol, phospholipids, and high density lipoprotein cholesterol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 33,781,268 N42S probably damaging Het
Apoc4 A T 7: 19,678,740 S27T probably benign Het
Atp13a3 T A 16: 30,351,279 Q363L probably damaging Het
Cfap69 A G 5: 5,617,295 Y417H probably benign Het
Cry1 A G 10: 85,146,834 S243P probably benign Het
Epb41l2 A G 10: 25,501,836 T116A probably damaging Het
Foxb1 A G 9: 69,760,198 S17P probably damaging Het
Glb1l3 A T 9: 26,853,671 L148H probably damaging Het
Hnrnpk T C 13: 58,395,297 probably benign Het
Icam5 G A 9: 21,036,795 probably null Het
Lats1 A G 10: 7,691,566 I34V probably damaging Het
Maml3 A G 3: 51,690,704 I207T probably benign Het
Nfatc2 A T 2: 168,504,890 S761R probably damaging Het
Nubp1 G A 16: 10,422,839 G280S probably damaging Het
Olfr463 T G 11: 87,893,365 R186S possibly damaging Het
Pabpc4 A G 4: 123,286,704 N73S probably damaging Het
Pcsk6 G A 7: 65,927,820 C163Y probably damaging Het
Phf3 G A 1: 30,811,847 T1142M probably damaging Het
Prune2 T A 19: 17,168,344 probably null Het
Psmd7 A G 8: 107,585,710 V85A probably damaging Het
Rc3h2 A G 2: 37,389,747 V490A possibly damaging Het
Sh3tc1 A C 5: 35,710,957 S388A probably damaging Het
Trank1 T C 9: 111,392,609 F2805L probably damaging Het
Yars2 T C 16: 16,303,321 L113P probably damaging Het
Zfp82 G A 7: 30,066,330 S16L probably damaging Het
Other mutations in Lipc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02431:Lipc APN 9 70934468 intron probably benign
Immunobolic UTSW 9 70823386 missense probably damaging 1.00
R0112:Lipc UTSW 9 70820427 missense probably damaging 1.00
R0114:Lipc UTSW 9 70803781 missense probably damaging 0.99
R0545:Lipc UTSW 9 70812705 missense probably damaging 1.00
R1051:Lipc UTSW 9 70802116 missense probably benign 0.00
R1069:Lipc UTSW 9 70823537 missense probably benign 0.03
R1350:Lipc UTSW 9 70798367 missense probably benign 0.00
R1742:Lipc UTSW 9 70820529 missense probably damaging 1.00
R2145:Lipc UTSW 9 70934535 missense possibly damaging 0.94
R3880:Lipc UTSW 9 70820518 missense probably damaging 0.99
R4360:Lipc UTSW 9 70852582 intron probably benign
R4999:Lipc UTSW 9 70816731 missense probably benign 0.00
R5159:Lipc UTSW 9 70812910 missense probably benign 0.03
R5197:Lipc UTSW 9 70798391 missense probably benign 0.11
R5458:Lipc UTSW 9 70852582 intron probably benign
R5710:Lipc UTSW 9 70812697 missense probably benign 0.30
R6645:Lipc UTSW 9 70803748 missense probably damaging 1.00
R6749:Lipc UTSW 9 70823386 missense probably damaging 1.00
R6849:Lipc UTSW 9 70818847 critical splice donor site probably null
R7011:Lipc UTSW 9 70818954 missense probably benign 0.09
R7346:Lipc UTSW 9 70812747 missense probably damaging 1.00
R7426:Lipc UTSW 9 70802168 missense probably benign 0.21
R7587:Lipc UTSW 9 70818924 missense probably damaging 1.00
R7830:Lipc UTSW 9 70812901 missense probably damaging 1.00
R8269:Lipc UTSW 9 70820373 missense probably damaging 1.00
X0054:Lipc UTSW 9 70812748 missense probably damaging 1.00
Posted On2011-12-09