Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01515:Gpam'

89345

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

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

IGL01515

Quality Score

Status

Chromosome

Chromosomal Location

55056067-55115666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55075883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 243 (L243P)

Ref Sequence

ENSEMBL: ENSMUSP00000057635 (fasta)

Gene Model

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

AlphaFold

Q61586

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,047,289 (GRCm39)	V588E	probably damaging	Het
Ar	C	T	X: 97,295,453 (GRCm39)		probably benign	Het
B4galt7	C	A	13: 55,757,035 (GRCm39)	Q243K	probably damaging	Het
Cdhr2	A	T	13: 54,866,051 (GRCm39)	T284S	probably benign	Het
Chdh	G	A	14: 29,758,843 (GRCm39)	R596H	probably damaging	Het
Cyp2r1	T	C	7: 114,151,947 (GRCm39)		probably benign	Het
Cyp3a44	A	T	5: 145,736,228 (GRCm39)	L74*	probably null	Het
Dnah8	A	T	17: 30,867,459 (GRCm39)	I304L	probably benign	Het
Fam171b	G	A	2: 83,710,577 (GRCm39)	E750K	probably damaging	Het
Fbxo38	T	A	18: 62,651,642 (GRCm39)	E554D	probably benign	Het
Fnd3c2	T	C	X: 105,282,093 (GRCm39)	K721E	probably damaging	Het
Heph	A	G	X: 95,601,706 (GRCm39)	E1032G	probably damaging	Het
Igf1r	T	A	7: 67,857,200 (GRCm39)	V1054E	probably damaging	Het
Inpp4b	A	G	8: 82,679,340 (GRCm39)	S331G	possibly damaging	Het
Ints11	A	T	4: 155,959,689 (GRCm39)	I99F	probably damaging	Het
Jak3	G	A	8: 72,133,206 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,304 (GRCm39)	Y437C	probably benign	Het
Lin28a	A	G	4: 133,746,020 (GRCm39)		probably null	Het
Macc1	A	C	12: 119,414,106 (GRCm39)	K761Q	probably damaging	Het
Myom2	A	G	8: 15,172,655 (GRCm39)	D1194G	probably benign	Het
Naga	C	A	15: 82,214,360 (GRCm39)	V384F	probably benign	Het
Necab3	A	T	2: 154,396,611 (GRCm39)	S72T	probably damaging	Het
Or4a27	G	A	2: 88,559,352 (GRCm39)	T197I	probably benign	Het
Or51i2	A	G	7: 103,689,183 (GRCm39)	Y60C	probably benign	Het
Ptpn13	C	T	5: 103,703,979 (GRCm39)	S1337L	probably benign	Het
Slitrk2	C	T	X: 65,699,248 (GRCm39)	P580S	probably damaging	Het
Tpsg1	A	G	17: 25,592,936 (GRCm39)	D67G	probably damaging	Het
Tsc22d1	T	C	14: 76,742,739 (GRCm39)		probably null	Het

Other mutations in Gpam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Gpam	APN	19	55,066,764 (GRCm39)	missense	possibly damaging	0.71
IGL01349:Gpam	APN	19	55,084,551 (GRCm39)	critical splice donor site	probably null
IGL01650:Gpam	APN	19	55,070,132 (GRCm39)	missense	probably benign	0.02
IGL01768:Gpam	APN	19	55,075,952 (GRCm39)	missense	probably benign	0.00
IGL01809:Gpam	APN	19	55,064,057 (GRCm39)	nonsense	probably null
IGL01878:Gpam	APN	19	55,071,806 (GRCm39)	missense	probably benign	0.22
IGL02451:Gpam	APN	19	55,076,635 (GRCm39)	missense	probably damaging	1.00
IGL03293:Gpam	APN	19	55,059,448 (GRCm39)	missense	probably benign
IGL03391:Gpam	APN	19	55,070,128 (GRCm39)	missense	probably damaging	1.00
R0492:Gpam	UTSW	19	55,084,611 (GRCm39)	missense	possibly damaging	0.72
R0703:Gpam	UTSW	19	55,061,188 (GRCm39)	missense	probably benign	0.00
R1083:Gpam	UTSW	19	55,076,643 (GRCm39)	splice site	probably benign
R1432:Gpam	UTSW	19	55,067,693 (GRCm39)	missense	probably damaging	0.99
R1457:Gpam	UTSW	19	55,076,608 (GRCm39)	missense	probably damaging	1.00
R1556:Gpam	UTSW	19	55,064,763 (GRCm39)	missense	possibly damaging	0.94
R1733:Gpam	UTSW	19	55,069,901 (GRCm39)	missense	probably damaging	0.99
R1744:Gpam	UTSW	19	55,063,023 (GRCm39)	missense	probably damaging	1.00
R1776:Gpam	UTSW	19	55,067,007 (GRCm39)	missense	possibly damaging	0.88
R2267:Gpam	UTSW	19	55,061,142 (GRCm39)	critical splice donor site	probably null
R2697:Gpam	UTSW	19	55,071,641 (GRCm39)	missense	probably damaging	1.00
R3836:Gpam	UTSW	19	55,068,890 (GRCm39)	missense	probably benign
R3837:Gpam	UTSW	19	55,068,890 (GRCm39)	missense	probably benign
R3838:Gpam	UTSW	19	55,068,890 (GRCm39)	missense	probably benign
R3839:Gpam	UTSW	19	55,068,890 (GRCm39)	missense	probably benign
R4670:Gpam	UTSW	19	55,084,551 (GRCm39)	critical splice donor site	probably null
R4717:Gpam	UTSW	19	55,064,046 (GRCm39)	missense	probably benign	0.00
R4819:Gpam	UTSW	19	55,066,773 (GRCm39)	missense	probably benign	0.03
R5104:Gpam	UTSW	19	55,082,418 (GRCm39)	missense	probably benign	0.44
R5146:Gpam	UTSW	19	55,082,378 (GRCm39)	missense	probably damaging	1.00
R5183:Gpam	UTSW	19	55,071,659 (GRCm39)	missense	probably damaging	1.00
R5326:Gpam	UTSW	19	55,079,597 (GRCm39)	missense	probably benign	0.05
R5347:Gpam	UTSW	19	55,077,269 (GRCm39)	missense	probably damaging	1.00
R5621:Gpam	UTSW	19	55,067,692 (GRCm39)	missense	probably damaging	1.00
R5644:Gpam	UTSW	19	55,077,331 (GRCm39)	missense	probably benign	0.00
R6244:Gpam	UTSW	19	55,059,417 (GRCm39)	missense	probably damaging	1.00
R6260:Gpam	UTSW	19	55,071,838 (GRCm39)	missense	probably benign	0.40
R6965:Gpam	UTSW	19	55,063,041 (GRCm39)	missense	probably damaging	1.00
R7125:Gpam	UTSW	19	55,064,767 (GRCm39)	missense	probably benign
R7567:Gpam	UTSW	19	55,070,062 (GRCm39)	missense	possibly damaging	0.86
R7715:Gpam	UTSW	19	55,077,353 (GRCm39)	missense	probably benign	0.19
R7719:Gpam	UTSW	19	55,070,102 (GRCm39)	missense	probably damaging	1.00
R7863:Gpam	UTSW	19	55,059,388 (GRCm39)	missense	probably damaging	1.00
R8187:Gpam	UTSW	19	55,066,269 (GRCm39)	missense	probably benign
R8434:Gpam	UTSW	19	55,070,063 (GRCm39)	missense	possibly damaging	0.93
R8483:Gpam	UTSW	19	55,077,374 (GRCm39)	missense	probably damaging	0.99
R8510:Gpam	UTSW	19	55,068,814 (GRCm39)	critical splice donor site	probably null
R8537:Gpam	UTSW	19	55,084,671 (GRCm39)	missense	probably benign	0.02
R8841:Gpam	UTSW	19	55,066,950 (GRCm39)	missense	probably damaging	1.00
R8915:Gpam	UTSW	19	55,077,312 (GRCm39)	missense	probably benign
R8987:Gpam	UTSW	19	55,072,227 (GRCm39)	missense	possibly damaging	0.79
R9224:Gpam	UTSW	19	55,075,907 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03