Mutagenetix > Incidental Mutation

Incidental Mutation 'R6343:Lpgat1'

513982

Institutional Source

Beutler Lab

Gene Symbol

Lpgat1

Ensembl Gene

ENSMUSG00000026623

Gene Name

lysophosphatidylglycerol acyltransferase 1

Synonyms

MMRRC Submission

044497-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R6343 (G1)

Quality Score

122.008

Status

Validated

Chromosome

Chromosomal Location

191449946-191516367 bp(+) (GRCm39)

Type of Mutation

splice site (143 bp from exon)

DNA Base Change (assembly)

A to G at 191508684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110855] [ENSMUST00000110856]

AlphaFold

Q91YX5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082911

Predicted Effect

probably null
Transcript: ENSMUST00000110855

SMART Domains

Protein: ENSMUSP00000106479
Gene: ENSMUSG00000026623

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
PlsC	95	219	2.16e-10	SMART
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110856

SMART Domains

Protein: ENSMUSP00000106480
Gene: ENSMUSG00000026623

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	93	115	N/A	INTRINSIC
PlsC	134	258	2.16e-10	SMART
Pfam:Acyltransf_C	310	384	1.5e-18	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,205,378 (GRCm39)	L301Q	probably damaging	Het
Adgrl4	T	C	3: 151,223,443 (GRCm39)	L632P	probably damaging	Het
Cacna2d1	T	A	5: 16,527,562 (GRCm39)	I539N	probably benign	Het
Camta1	T	A	4: 151,164,306 (GRCm39)	H314L	probably damaging	Het
Car2	T	C	3: 14,953,025 (GRCm39)	S56P	probably damaging	Het
Chrm5	G	A	2: 112,309,793 (GRCm39)	A441V	probably damaging	Het
Ckap5	T	A	2: 91,426,819 (GRCm39)	N1380K	possibly damaging	Het
Cspg4	T	C	9: 56,799,976 (GRCm39)	V1580A	probably benign	Het
Dcc	A	G	18: 71,469,106 (GRCm39)	L1099P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha5	A	T	5: 84,254,606 (GRCm39)	H644Q	probably damaging	Het
Eya3	T	C	4: 132,400,221 (GRCm39)	I80T	probably damaging	Het
Fdft1	A	T	14: 63,388,721 (GRCm39)	Y304N	probably damaging	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Gpatch2l	T	A	12: 86,307,379 (GRCm39)	Y252*	probably null	Het
Hivep1	G	T	13: 42,313,147 (GRCm39)	G1796*	probably null	Het
Irf8	T	C	8: 121,480,446 (GRCm39)	V228A	probably damaging	Het
Islr	A	C	9: 58,064,379 (GRCm39)	V376G	probably damaging	Het
Kdm5a	T	C	6: 120,359,894 (GRCm39)	V230A	probably benign	Het
Lrp8	T	C	4: 107,726,353 (GRCm39)		probably null	Het
Lyzl4	A	C	9: 121,407,150 (GRCm39)	S127A	possibly damaging	Het
Map4k1	T	C	7: 28,699,715 (GRCm39)	V606A	possibly damaging	Het
Mau2	T	A	8: 70,484,173 (GRCm39)	K138N	probably damaging	Het
Meikin	T	C	11: 54,261,592 (GRCm39)	L33P	probably damaging	Het
Mrpl28	T	C	17: 26,345,252 (GRCm39)	V224A	probably benign	Het
Ncdn	T	C	4: 126,640,964 (GRCm39)	D512G	possibly damaging	Het
Nlrp2	T	A	7: 5,303,925 (GRCm39)	Q200L	possibly damaging	Het
Nup98	T	C	7: 101,843,957 (GRCm39)	N89S	possibly damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or14a258	T	A	7: 86,035,059 (GRCm39)	R270*	probably null	Het
Or52p2	A	G	7: 102,237,753 (GRCm39)	C66R	probably damaging	Het
Or5b12	G	T	19: 12,896,946 (GRCm39)	H242Q	probably damaging	Het
Or6c201	A	T	10: 128,969,535 (GRCm39)	L34*	probably null	Het
Padi3	C	T	4: 140,530,819 (GRCm39)	V68I	possibly damaging	Het
Pign	A	T	1: 105,512,820 (GRCm39)	M621K	probably benign	Het
Pigv	C	T	4: 133,392,547 (GRCm39)	V208M	probably damaging	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,310,124 (GRCm39)	K285E	probably benign	Het
Serpina3k	G	C	12: 104,311,562 (GRCm39)	G380A	probably benign	Het
Sorbs1	A	G	19: 40,365,426 (GRCm39)		probably null	Het
Srrd	G	C	5: 112,487,866 (GRCm39)	A104G	probably benign	Het
Tbp	T	A	17: 15,721,351 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,442,447 (GRCm39)	H209Y	probably damaging	Het
Tmprss11c	A	G	5: 86,404,204 (GRCm39)	L157P	probably damaging	Het
Tmprss13	A	T	9: 45,254,498 (GRCm39)	T422S	possibly damaging	Het
Ttll5	A	G	12: 86,003,473 (GRCm39)	H1103R	probably benign	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Vldlr	A	G	19: 27,223,049 (GRCm39)	Y699C	probably damaging	Het
Vmn1r22	T	G	6: 57,877,563 (GRCm39)	N138T	possibly damaging	Het

Other mutations in Lpgat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Lpgat1	APN	1	191,492,321 (GRCm39)	missense	probably benign	0.01
IGL01410:Lpgat1	APN	1	191,508,544 (GRCm39)	splice site	probably null
R0324:Lpgat1	UTSW	1	191,481,754 (GRCm39)	missense	probably damaging	1.00
R0386:Lpgat1	UTSW	1	191,451,460 (GRCm39)	splice site	probably benign
R1568:Lpgat1	UTSW	1	191,508,538 (GRCm39)	missense	possibly damaging	0.92
R1616:Lpgat1	UTSW	1	191,495,741 (GRCm39)	missense	possibly damaging	0.96
R2440:Lpgat1	UTSW	1	191,492,321 (GRCm39)	missense	probably benign	0.01
R4087:Lpgat1	UTSW	1	191,495,728 (GRCm39)	missense	possibly damaging	0.82
R4152:Lpgat1	UTSW	1	191,451,600 (GRCm39)	nonsense	probably null
R4720:Lpgat1	UTSW	1	191,495,779 (GRCm39)	missense	probably damaging	1.00
R4962:Lpgat1	UTSW	1	191,451,682 (GRCm39)	missense	probably damaging	1.00
R5828:Lpgat1	UTSW	1	191,508,494 (GRCm39)	missense	possibly damaging	0.53
R7326:Lpgat1	UTSW	1	191,451,565 (GRCm39)	missense	probably benign	0.03
R8926:Lpgat1	UTSW	1	191,492,120 (GRCm39)	missense	probably damaging	1.00
R9096:Lpgat1	UTSW	1	191,451,569 (GRCm39)	missense	possibly damaging	0.50
R9339:Lpgat1	UTSW	1	191,451,488 (GRCm39)	missense	probably benign	0.00
R9750:Lpgat1	UTSW	1	191,510,587 (GRCm39)	missense	probably benign	0.05
RF014:Lpgat1	UTSW	1	191,450,665 (GRCm39)	small insertion	probably benign
Z1176:Lpgat1	UTSW	1	191,510,587 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- CAGCGCTTTATTGAGAAGGAG -3'
(R):5'- TGAGCAACGGTGTAAGAACC -3'

Sequencing Primer
(F):5'- GCTGCAGACGAGATAAAC -3'
(R):5'- GTTGACATTCTTAACTACAGAATGGC -3'

Posted On

2018-04-27