Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Gpam'

102798

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpam

Ensembl Gene

ENSMUSG00000024978

Gene Name

glycerol-3-phosphate acyltransferase, mitochondrial

Synonyms

GPAT1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

55069734-55099451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55081700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 375 (N375D)

Ref Sequence

ENSEMBL: ENSMUSP00000057635 (fasta)

Gene Model

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

AlphaFold

Q61586

Predicted Effect

probably benign
Transcript: ENSMUST00000061856
AA Change: N375D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: N375D

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,992,673		probably benign	Het
Agbl1	A	G	7: 76,420,319	D281G	probably damaging	Het
Arhgap28	T	C	17: 67,873,132	E236G	probably damaging	Het
Btbd3	A	T	2: 138,284,105	D334V	probably damaging	Het
Cabp4	T	C	19: 4,139,324	E78G	probably benign	Het
Clcn4	T	C	7: 7,284,281		probably benign	Het
Col14a1	A	G	15: 55,406,693	Y600C	unknown	Het
Cpne4	A	G	9: 104,901,511	D167G	probably damaging	Het
Eif3a	T	A	19: 60,773,996	I450F	probably damaging	Het
Enpp2	T	A	15: 54,919,933	Y10F	probably benign	Het
Fam227a	A	T	15: 79,634,073	H339Q	possibly damaging	Het
Far2	C	A	6: 148,173,487	T406K	possibly damaging	Het
Fmo1	A	G	1: 162,833,584	S377P	probably benign	Het
Fsip2	G	A	2: 82,991,086	S5721N	probably benign	Het
Gatb	T	C	3: 85,613,484	I300T	possibly damaging	Het
Gsdma	G	T	11: 98,673,687	D331Y	probably damaging	Het
Kif13b	T	C	14: 64,765,145	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 40,003,119	M261L	probably benign	Het
Nav1	A	T	1: 135,454,760	D1321E	probably damaging	Het
Olfr1312	A	G	2: 112,042,375	I219T	possibly damaging	Het
Olfr592	A	G	7: 103,187,079	I159M	probably benign	Het
Olfr813	T	A	10: 129,857,067	L183Q	probably damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Olfr951	G	T	9: 39,393,956	S55I	probably damaging	Het
Ppp1r10	G	T	17: 35,931,161	R857L	unknown	Het
Prune2	T	A	19: 17,168,292	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,002,401	I859T	probably benign	Het
Ros1	T	C	10: 52,154,979	D510G	probably damaging	Het
Sema3g	C	A	14: 31,221,787	P208H	probably benign	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Tnfsf13b	A	T	8: 10,031,411	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,676,025	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,380,104		probably null	Het
Zkscan7	A	G	9: 122,894,827	D287G	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
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
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
R8841:Gpam	UTSW	19	55078518	missense	probably damaging	1.00
R8915:Gpam	UTSW	19	55088880	missense	probably benign
R8987:Gpam	UTSW	19	55083795	missense	possibly damaging	0.79
R9224:Gpam	UTSW	19	55087475	missense	probably damaging	1.00

Posted On

2014-01-21