Incidental Mutation 'IGL02431:Lipc'
ID293153
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 #IGL02431
Quality Score
Status
Chromosome9
Chromosomal Location70798128-70952226 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 70934468 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034731] [ENSMUST00000214995] [ENSMUST00000216798]
Predicted Effect probably benign
Transcript: ENSMUST00000034731
SMART Domains Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207

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: ENSMUST00000215190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215814
Predicted Effect probably benign
Transcript: ENSMUST00000216798
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,659,424 N57S probably damaging Het
Abca17 T A 17: 24,298,984 I784L probably benign Het
Abcc1 T A 16: 14,419,734 V473E probably damaging Het
Agap3 A G 5: 24,501,012 E758G probably damaging Het
C6 A T 15: 4,759,861 K263* probably null Het
Cep78 T C 19: 15,959,579 T588A probably benign Het
Col4a3 C T 1: 82,679,623 Q815* probably null Het
Dcaf10 A G 4: 45,342,630 M155V probably benign Het
Fam208b A G 13: 3,574,736 V1738A possibly damaging Het
Fam228b T C 12: 4,762,370 Y136C probably damaging Het
Fryl A T 5: 73,098,308 H793Q probably benign Het
Gm10134 T C 2: 28,506,417 probably benign Het
Gm6505 T C 3: 28,765,020 noncoding transcript Het
Il31ra A G 13: 112,530,296 F416S probably damaging Het
Lrp4 A G 2: 91,476,637 K368E possibly damaging Het
Lrriq1 A T 10: 103,200,639 N884K probably damaging Het
Mrgprx1 T C 7: 48,021,127 R291G probably benign Het
Myo15 T A 11: 60,510,639 V3057E possibly damaging Het
Olfr738 T A 14: 50,413,769 I75N probably damaging Het
Olfr761 T A 17: 37,952,522 R167S probably benign Het
Postn A T 3: 54,375,096 I493F probably damaging Het
Ptpn22 C A 3: 103,903,397 F713L probably benign Het
Pygm T C 19: 6,388,118 V239A probably damaging Het
Rangrf C A 11: 68,972,739 C147F probably benign Het
Rnf112 C T 11: 61,450,379 R460H probably benign Het
Sh3d19 A G 3: 86,106,998 E423G probably damaging Het
Tipin A G 9: 64,301,185 K204E probably benign Het
Traf3ip1 A T 1: 91,499,635 Q109L unknown Het
Ttc21b A T 2: 66,251,885 probably benign Het
Ttn C A 2: 76,974,116 A271S probably benign Het
Vegfb C A 19: 6,986,018 probably null Het
Vmn1r15 T A 6: 57,258,903 L252H possibly damaging Het
Wipi1 A T 11: 109,603,791 V72D probably damaging Het
Zmym1 G A 4: 127,047,764 Q944* probably null Het
Other mutations in Lipc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Lipc APN 9 70820437 missense possibly damaging 0.56
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 On2015-04-16