Incidental Mutation 'IGL01515:Gpam'
ID89345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpam
Ensembl Gene ENSMUSG00000024978
Gene Nameglycerol-3-phosphate acyltransferase, mitochondrial
SynonymsGPAT1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL01515
Quality Score
Status
Chromosome19
Chromosomal Location55069734-55099451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55087451 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 243 (L243P)
Ref Sequence ENSEMBL: ENSMUSP00000057635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061856]
Predicted Effect probably damaging
Transcript: ENSMUST00000061856
AA Change: L243P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: L243P

DomainStartEndE-ValueType
Blast:PlsC 5 34 3e-8 BLAST
PlsC 224 357 2.46e-23 SMART
Blast:PlsC 499 551 8e-27 BLAST
low complexity region 687 699 N/A INTRINSIC
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 mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,163,086 V588E probably damaging Het
Ar C T X: 98,251,847 probably benign Het
B4galt7 C A 13: 55,609,222 Q243K probably damaging Het
Cdhr2 A T 13: 54,718,238 T284S probably benign Het
Chdh G A 14: 30,036,886 R596H probably damaging Het
Cyp2r1 T C 7: 114,552,712 probably benign Het
Cyp3a44 A T 5: 145,799,418 L74* probably null Het
Dnah8 A T 17: 30,648,485 I304L probably benign Het
Fam171b G A 2: 83,880,233 E750K probably damaging Het
Fbxo38 T A 18: 62,518,571 E554D probably benign Het
Fnd3c2 T C X: 106,238,487 K721E probably damaging Het
Heph A G X: 96,558,100 E1032G probably damaging Het
Igf1r T A 7: 68,207,452 V1054E probably damaging Het
Inpp4b A G 8: 81,952,711 S331G possibly damaging Het
Ints11 A T 4: 155,875,232 I99F probably damaging Het
Jak3 G A 8: 71,680,562 probably null Het
Ky A G 9: 102,542,105 Y437C probably benign Het
Lin28a A G 4: 134,018,709 probably null Het
Macc1 A C 12: 119,450,371 K761Q probably damaging Het
Myom2 A G 8: 15,122,655 D1194G probably benign Het
Naga C A 15: 82,330,159 V384F probably benign Het
Necab3 A T 2: 154,554,691 S72T probably damaging Het
Olfr1197 G A 2: 88,729,008 T197I probably benign Het
Olfr641 A G 7: 104,039,976 Y60C probably benign Het
Ptpn13 C T 5: 103,556,113 S1337L probably benign Het
Slitrk2 C T X: 66,655,642 P580S probably damaging Het
Tpsg1 A G 17: 25,373,962 D67G probably damaging Het
Tsc22d1 T C 14: 76,505,299 probably null Het
Other mutations in Gpam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Gpam APN 19 55078332 missense possibly damaging 0.71
IGL01349:Gpam APN 19 55096119 critical splice donor site probably null
IGL01650:Gpam APN 19 55081700 missense probably benign 0.02
IGL01768:Gpam APN 19 55087520 missense probably benign 0.00
IGL01809:Gpam APN 19 55075625 nonsense probably null
IGL01878:Gpam APN 19 55083374 missense probably benign 0.22
IGL02451:Gpam APN 19 55088203 missense probably damaging 1.00
IGL03293:Gpam APN 19 55071016 missense probably benign
IGL03391:Gpam APN 19 55081696 missense probably damaging 1.00
R0492:Gpam UTSW 19 55096179 missense possibly damaging 0.72
R0703:Gpam UTSW 19 55072756 missense probably benign 0.00
R1083:Gpam UTSW 19 55088211 splice site probably benign
R1432:Gpam UTSW 19 55079261 missense probably damaging 0.99
R1457:Gpam UTSW 19 55088176 missense probably damaging 1.00
R1556:Gpam UTSW 19 55076331 missense possibly damaging 0.94
R1733:Gpam UTSW 19 55081469 missense probably damaging 0.99
R1744:Gpam UTSW 19 55074591 missense probably damaging 1.00
R1776:Gpam UTSW 19 55078575 missense possibly damaging 0.88
R2267:Gpam UTSW 19 55072710 critical splice donor site probably null
R2697:Gpam UTSW 19 55083209 missense probably damaging 1.00
R3836:Gpam UTSW 19 55080458 missense probably benign
R3837:Gpam UTSW 19 55080458 missense probably benign
R3838:Gpam UTSW 19 55080458 missense probably benign
R3839:Gpam UTSW 19 55080458 missense probably benign
R4670:Gpam UTSW 19 55096119 critical splice donor site probably null
R4717:Gpam UTSW 19 55075614 missense probably benign 0.00
R4819:Gpam UTSW 19 55078341 missense probably benign 0.03
R5104:Gpam UTSW 19 55093986 missense probably benign 0.44
R5146:Gpam UTSW 19 55093946 missense probably damaging 1.00
R5183:Gpam UTSW 19 55083227 missense probably damaging 1.00
R5326:Gpam UTSW 19 55091165 missense probably benign 0.05
R5347:Gpam UTSW 19 55088837 missense probably damaging 1.00
R5621:Gpam UTSW 19 55079260 missense probably damaging 1.00
R5644:Gpam UTSW 19 55088899 missense probably benign 0.00
R6244:Gpam UTSW 19 55070985 missense probably damaging 1.00
R6260:Gpam UTSW 19 55083406 missense probably benign 0.40
R6965:Gpam UTSW 19 55074609 missense probably damaging 1.00
R7125:Gpam UTSW 19 55076335 missense probably benign
Posted On2013-12-03