Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Gpam'

595150

Institutional Source

Beutler Lab

Gene Symbol

Gpam

Ensembl Gene

ENSMUSG00000024978

Gene Name

glycerol-3-phosphate acyltransferase, mitochondrial

Synonyms

GPAT1

MMRRC Submission

045776-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R7719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55056067-55115666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55070102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 385 (V385I)

Ref Sequence

ENSEMBL: ENSMUSP00000057635 (fasta)

Gene Model

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

AlphaFold

Q61586

Predicted Effect

probably damaging
Transcript: ENSMUST00000061856
AA Change: V385I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: V385I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (67/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	A	1: 155,562,758 (GRCm39)	L253H	probably damaging	Het
Adam11	T	C	11: 102,663,303 (GRCm39)	V238A	probably benign	Het
Amer3	A	T	1: 34,628,083 (GRCm39)	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,550,236 (GRCm39)	L150P	unknown	Het
Ano8	G	T	8: 71,935,784 (GRCm39)	T278K	possibly damaging	Het
Atg16l2	T	C	7: 100,939,074 (GRCm39)	K618E	probably damaging	Het
Casz1	C	T	4: 149,028,981 (GRCm39)	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,190,813 (GRCm39)	E471D	probably damaging	Het
Cks1b	T	C	3: 89,323,635 (GRCm39)	N45D	probably benign	Het
Clasrp	T	C	7: 19,321,769 (GRCm39)	T296A	probably damaging	Het
Cluap1	C	T	16: 3,727,467 (GRCm39)		probably null	Het
Cntn5	T	A	9: 9,704,903 (GRCm39)	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,920,591 (GRCm39)	Q593*	probably null	Het
Col18a1	A	T	10: 76,913,846 (GRCm39)	I457K	probably benign	Het
Crybb3	G	T	5: 113,223,834 (GRCm39)	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,417,383 (GRCm39)	A123T	probably benign	Het
Cyp2b13	C	T	7: 25,795,095 (GRCm39)	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,457,079 (GRCm39)	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,108,137 (GRCm39)	G320R	possibly damaging	Het
Dbp	T	C	7: 45,359,174 (GRCm39)	I283T	probably damaging	Het
Efcab3	T	C	11: 105,002,674 (GRCm39)	I303T	probably benign	Het
Efcab8	T	A	2: 153,629,665 (GRCm39)	V166D		Het
Efhc1	A	T	1: 21,049,744 (GRCm39)	I535F	probably benign	Het
Epb41l3	A	G	17: 69,560,409 (GRCm39)	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,035,900 (GRCm39)	T193A	unknown	Het
Fam227a	T	C	15: 79,504,913 (GRCm39)	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841 (GRCm39)	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,544,472 (GRCm39)	E78D	probably benign	Het
Gpr55	A	G	1: 85,869,059 (GRCm39)	V174A	probably benign	Het
Gsdmc	T	C	15: 63,650,813 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,441,080 (GRCm39)	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,830,293 (GRCm39)	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Igsf3	G	A	3: 101,342,857 (GRCm39)	R478H	probably damaging	Het
Itgb5	A	G	16: 33,740,486 (GRCm39)	Q532R	probably benign	Het
Jph1	T	C	1: 17,162,215 (GRCm39)	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,544,395 (GRCm39)	D33G	probably null	Het
Mex3c	G	T	18: 73,723,061 (GRCm39)	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,051,366 (GRCm39)	S320T	probably benign	Het
Nsun4	A	T	4: 115,909,617 (GRCm39)	N314K	possibly damaging	Het
Omg	T	A	11: 79,393,059 (GRCm39)	E266D	probably benign	Het
Or4b12	A	T	2: 90,096,603 (GRCm39)	M57K	probably damaging	Het
Paqr9	T	A	9: 95,442,829 (GRCm39)	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,902,699 (GRCm39)		probably benign	Het
Plekhm3	T	C	1: 64,960,901 (GRCm39)	K452E	probably benign	Het
Plpbp	T	A	8: 27,535,974 (GRCm39)	I86N		Het
Prl2c1	G	T	13: 28,035,780 (GRCm39)	A51S	probably damaging	Het
Prmt8	A	T	6: 127,706,466 (GRCm39)	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,107,280 (GRCm39)	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Rassf9	A	G	10: 102,381,461 (GRCm39)	D281G	probably benign	Het
Resf1	T	C	6: 149,228,853 (GRCm39)	I633T	probably benign	Het
Rmnd1	T	C	10: 4,377,496 (GRCm39)	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,745,229 (GRCm39)	S2055P	possibly damaging	Het
Six5	G	A	7: 18,830,803 (GRCm39)	A477T	probably damaging	Het
Speg	A	G	1: 75,352,469 (GRCm39)	E129G	probably damaging	Het
Stard10	C	T	7: 100,995,320 (GRCm39)	A78V	not run	Het
Stard3	T	C	11: 98,266,502 (GRCm39)	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523 (GRCm39)	P3088S	probably damaging	Het
Tbck	A	G	3: 132,440,489 (GRCm39)	D508G	probably damaging	Het
Tgm2	T	A	2: 157,985,038 (GRCm39)	T23S	probably damaging	Het
Ttll10	G	T	4: 156,131,665 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,852,738 (GRCm39)	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,319,618 (GRCm39)	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,680,588 (GRCm39)	W318R	probably damaging	Het
Zer1	A	T	2: 30,001,243 (GRCm39)	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,901,212 (GRCm39)	N380K	probably benign	Het
Zfp90	T	C	8: 107,145,725 (GRCm39)	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	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
IGL01515:Gpam	APN	19	55,075,883 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCTGGCCTTCTAAATATTCCTGG -3'
(R):5'- CAAGGGATGTGCTTGGCAAC -3'

Sequencing Primer
(F):5'- GTTTAAAAAGCAAGCTTTGGG -3'
(R):5'- CTTGGCAACCTGAGGCTTTAAAAAG -3'

Posted On

2019-11-12