Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Gpam'

277035

Institutional Source

Beutler Lab

Gene Symbol

Gpam

Ensembl Gene

ENSMUSG00000024978

Gene Name

glycerol-3-phosphate acyltransferase, mitochondrial

Synonyms

GPAT1

MMRRC Submission

040779-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55069734-55099451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55080458 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 450 (N450S)

Ref Sequence

ENSEMBL: ENSMUSP00000057635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061856]

Predicted Effect

probably benign
Transcript: ENSMUST00000061856
AA Change: N450S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: N450S

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0682

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	Het

Other mutations in Gpam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R7863:Gpam	UTSW	19	55070956	missense	probably damaging	1.00
R8187:Gpam	UTSW	19	55077837	missense	probably benign
R8434:Gpam	UTSW	19	55081631	missense	possibly damaging	0.93
R8483:Gpam	UTSW	19	55088942	missense	probably damaging	0.99
R8510:Gpam	UTSW	19	55080382	critical splice donor site	probably null
R8537:Gpam	UTSW	19	55096239	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATAGACTCAGAAGAGGGATCCCC -3'
(R):5'- TGTGTACCTTCTAAAGCATGAGG -3'

Sequencing Primer
(F):5'- CCCATCGGAGTTCCAAATGTG -3'
(R):5'- CTTGTGTATGTCAGCCCAGCAG -3'

Posted On

2015-04-06