Incidental Mutation 'IGL01485:Lpin1'
ID88738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpin1
Ensembl Gene ENSMUSG00000020593
Gene Namelipin 1
SynonymsLipin1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.485) question?
Stock #IGL01485
Quality Score
Status
Chromosome12
Chromosomal Location16535669-16610966 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 16562357 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067124] [ENSMUST00000111067] [ENSMUST00000221230] [ENSMUST00000221297] [ENSMUST00000222989]
Predicted Effect probably benign
Transcript: ENSMUST00000067124
SMART Domains Protein: ENSMUSP00000070583
Gene: ENSMUSG00000020593

DomainStartEndE-ValueType
Pfam:Lipin_N 1 110 1.1e-48 PFAM
low complexity region 153 161 N/A INTRINSIC
low complexity region 230 242 N/A INTRINSIC
Pfam:Lipin_mid 498 591 9.4e-36 PFAM
low complexity region 630 642 N/A INTRINSIC
LNS2 708 864 3.42e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111067
SMART Domains Protein: ENSMUSP00000106696
Gene: ENSMUSG00000020593

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 2.2e-53 PFAM
low complexity region 153 161 N/A INTRINSIC
low complexity region 237 252 N/A INTRINSIC
low complexity region 597 609 N/A INTRINSIC
LNS2 675 831 3.42e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221230
Predicted Effect probably benign
Transcript: ENSMUST00000221297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221789
Predicted Effect probably benign
Transcript: ENSMUST00000222989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223129
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]
PHENOTYPE: ENU-induced mutants show transient hindlimb paralysis, demyelination and myelin sheath defects. Spontaneous mutants show neonatal fatty liver and hypertriglyceridemia, runting, male sterility, peripheral neuropathy, and altered hair growth, myelination, adipogenesis and lipid and glucose metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,950,022 L888F probably damaging Het
Aftph G T 11: 20,692,507 A842E probably damaging Het
Ankrd13d A T 19: 4,273,564 M257K probably benign Het
Anks1 T C 17: 28,051,584 F786L probably damaging Het
Cd2ap A T 17: 42,852,474 I20N probably damaging Het
Cdh20 C T 1: 104,934,107 T4M probably benign Het
Dnah5 C T 15: 28,331,726 R2153C probably damaging Het
Fap G A 2: 62,544,311 P248L possibly damaging Het
Gm853 T A 4: 130,215,425 Y274F probably benign Het
Hps4 T A 5: 112,364,511 probably benign Het
Igdcc4 C A 9: 65,122,607 T313K probably benign Het
Klhl30 G A 1: 91,354,039 V121I probably damaging Het
Ldb3 C A 14: 34,542,562 E526D probably damaging Het
Lhfpl4 T A 6: 113,194,121 I35F probably benign Het
Nek1 T A 8: 61,049,826 C436S probably benign Het
Nek5 C A 8: 22,083,369 A524S probably benign Het
Nkx2-3 C T 19: 43,612,655 T52M possibly damaging Het
Olfr1364 A T 13: 21,574,457 probably null Het
Olfr393 A G 11: 73,847,210 I305T probably benign Het
Olfr923 G A 9: 38,828,599 V303I possibly damaging Het
Pappa T C 4: 65,189,299 V649A probably damaging Het
Parp4 T A 14: 56,622,204 Y920N possibly damaging Het
Pdgfra G A 5: 75,163,652 S56N probably benign Het
Pigg T C 5: 108,336,201 V438A possibly damaging Het
Ptn A T 6: 36,743,363 C85S probably damaging Het
Sh3rf1 A C 8: 61,329,331 E169A possibly damaging Het
Slc30a10 T A 1: 185,455,419 V119E probably damaging Het
Speg A G 1: 75,387,827 E178G probably damaging Het
Sspo A G 6: 48,478,731 Y3105C probably damaging Het
Supt3 A G 17: 45,119,158 E366G possibly damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Ttc21b G A 2: 66,251,890 probably benign Het
Usp24 T C 4: 106,362,232 F542L probably benign Het
Vmn1r234 T A 17: 21,228,909 D28E possibly damaging Het
Other mutations in Lpin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Lpin1 APN 12 16553992 missense probably benign 0.00
IGL00929:Lpin1 APN 12 16573699 missense probably benign 0.05
IGL01750:Lpin1 APN 12 16577176 missense probably benign 0.00
IGL01774:Lpin1 APN 12 16558476 missense probably damaging 0.96
IGL02197:Lpin1 APN 12 16558407 critical splice donor site probably null
IGL02244:Lpin1 APN 12 16541769 missense probably damaging 0.99
IGL02272:Lpin1 APN 12 16547600 missense probably damaging 1.00
IGL03366:Lpin1 APN 12 16544677 missense probably damaging 1.00
lipin UTSW 12 16547499 missense probably damaging 1.00
R0044:Lpin1 UTSW 12 16568529 splice site probably benign
R0106:Lpin1 UTSW 12 16540979 missense possibly damaging 0.88
R0106:Lpin1 UTSW 12 16540979 missense possibly damaging 0.88
R0676:Lpin1 UTSW 12 16540979 missense possibly damaging 0.88
R1119:Lpin1 UTSW 12 16563721 missense probably damaging 1.00
R1570:Lpin1 UTSW 12 16560998 missense possibly damaging 0.94
R1611:Lpin1 UTSW 12 16577218 missense probably null 0.64
R1646:Lpin1 UTSW 12 16573658 critical splice donor site probably null
R1756:Lpin1 UTSW 12 16538540 missense probably damaging 0.99
R1870:Lpin1 UTSW 12 16541743 missense probably damaging 1.00
R1912:Lpin1 UTSW 12 16546727 missense probably damaging 0.96
R1971:Lpin1 UTSW 12 16580723 missense probably damaging 1.00
R2484:Lpin1 UTSW 12 16547499 missense probably damaging 1.00
R2901:Lpin1 UTSW 12 16553998 missense probably benign
R3195:Lpin1 UTSW 12 16565583 missense possibly damaging 0.91
R3779:Lpin1 UTSW 12 16564568 missense probably damaging 0.96
R3918:Lpin1 UTSW 12 16571189 missense probably benign 0.00
R4532:Lpin1 UTSW 12 16553962 missense probably benign 0.01
R4857:Lpin1 UTSW 12 16563630 missense possibly damaging 0.86
R4882:Lpin1 UTSW 12 16538536 missense probably damaging 1.00
R5024:Lpin1 UTSW 12 16554006 missense probably benign 0.38
R5084:Lpin1 UTSW 12 16576982 missense probably damaging 1.00
R5108:Lpin1 UTSW 12 16573715 missense probably benign 0.39
R5191:Lpin1 UTSW 12 16580828 missense possibly damaging 0.95
R5377:Lpin1 UTSW 12 16563655 missense probably damaging 1.00
R5587:Lpin1 UTSW 12 16573714 missense probably damaging 1.00
R5659:Lpin1 UTSW 12 16540989 missense probably damaging 1.00
R5924:Lpin1 UTSW 12 16544657 missense possibly damaging 0.91
R6391:Lpin1 UTSW 12 16564553 missense probably benign 0.29
R6746:Lpin1 UTSW 12 16565528 missense probably benign
R6799:Lpin1 UTSW 12 16561044 missense probably damaging 1.00
R6969:Lpin1 UTSW 12 16580861 missense probably damaging 0.99
Posted On2013-11-18