Incidental Mutation 'IGL01878:Gpam'
ID178966
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? Probably non essential (E-score: 0.240) question?
Stock #IGL01878
Quality Score
Status
Chromosome19
Chromosomal Location55069734-55099451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55083374 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 312 (I312V)
Ref Sequence ENSEMBL: ENSMUSP00000057635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061856]
Predicted Effect probably benign
Transcript: ENSMUST00000061856
AA Change: I312V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: I312V

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging 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
IGL01515:Gpam APN 19 55087451 missense probably damaging 1.00
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
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
R7567:Gpam UTSW 19 55081630 missense possibly damaging 0.86
R7715:Gpam UTSW 19 55088921 missense probably benign 0.19
R7719:Gpam UTSW 19 55081670 missense probably damaging 1.00
Posted On2014-05-07