Incidental Mutation 'IGL01809:Gpam'
ID155752
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: 0.257) question?
Stock #IGL01809
Quality Score
Status
Chromosome19
Chromosomal Location55069734-55099451 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 55075625 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 679 (K679*)
Ref Sequence ENSEMBL: ENSMUSP00000057635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061856]
Predicted Effect probably null
Transcript: ENSMUST00000061856
AA Change: K679*
SMART Domains Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: K679*

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,290,339 N734I probably damaging Het
Abi1 T C 2: 22,946,717 I371V probably benign Het
Atp8b3 A G 10: 80,520,011 F1289S probably benign Het
Brca2 T A 5: 150,531,061 probably null Het
C8a A T 4: 104,845,942 I306N probably benign Het
Crybg3 G T 16: 59,524,853 probably benign Het
Disp2 T A 2: 118,787,264 probably benign Het
Dtl A G 1: 191,548,303 F373S probably damaging Het
Dynlt1a G A 17: 6,310,872 probably null Het
Dyrk1a G A 16: 94,659,617 R44H probably benign Het
Fam114a2 C T 11: 57,513,635 probably null Het
Fsip2 A G 2: 82,978,347 E1670G possibly damaging Het
Gbp10 A T 5: 105,217,359 N594K probably benign Het
Gtf2i A T 5: 134,249,950 V524E probably damaging Het
Itpr2 T A 6: 146,227,581 E2011D probably damaging Het
Jag1 C A 2: 137,115,484 G103W probably damaging Het
Klkb1 A T 8: 45,276,053 V378E probably benign Het
Lyst T A 13: 13,637,803 S933R probably damaging Het
Man2b2 T C 5: 36,814,516 S619G probably benign Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Mtf2 A G 5: 108,087,325 I36V probably benign Het
Nckipsd T C 9: 108,817,554 Y652H probably damaging Het
Olfr1136 T C 2: 87,693,745 I46V possibly damaging Het
Olfr870 A G 9: 20,171,295 I92T probably damaging Het
Olfr968 A T 9: 39,772,694 Y35* probably null Het
Olfr994 A G 2: 85,430,154 L225P probably damaging Het
Phykpl T C 11: 51,599,524 F411L probably benign Het
Rbm8a T A 3: 96,631,537 F101I probably damaging Het
Rbp3 G T 14: 33,955,300 G402W probably damaging Het
Recql4 G A 15: 76,708,870 R254* probably null Het
Rsph14 G A 10: 74,957,786 probably benign Het
Stau2 A T 1: 16,440,315 probably null Het
Tmprss11c G A 5: 86,237,662 S304L possibly damaging Het
Vipr1 T G 9: 121,661,440 M184R possibly damaging Het
Zfp106 G A 2: 120,533,671 R752C 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
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
R7567:Gpam UTSW 19 55081630 missense not run
Posted On2014-02-04