Mutagenetix > Incidental Mutation

Incidental Mutation 'R7880:Lpcat4'

608679

Institutional Source

Beutler Lab

Gene Symbol

Lpcat4

Ensembl Gene

ENSMUSG00000027134

Gene Name

lysophosphatidylcholine acyltransferase 4

Synonyms

Agpat7, LPEAT2, Aytl3

MMRRC Submission

045932-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R7880 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112070186-112077456 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112070376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 30 (H30N)

Ref Sequence

ENSEMBL: ENSMUSP00000028554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028554]

AlphaFold

Q6NVG1

Predicted Effect

probably benign
Transcript: ENSMUST00000028554
AA Change: H30N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028554
Gene: ENSMUSG00000027134
AA Change: H30N

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
low complexity region	92	113	N/A	INTRINSIC
PlsC	123	234	5.73e-24	SMART
low complexity region	411	422	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,511,691 (GRCm39)	D703V	possibly damaging	Het
Adamts1	G	A	16: 85,594,940 (GRCm39)	R340*	probably null	Het
Akap13	A	G	7: 75,235,964 (GRCm39)	T180A	probably damaging	Het
Arhgap31	G	A	16: 38,423,087 (GRCm39)	A993V	probably benign	Het
Asxl3	C	T	18: 22,655,208 (GRCm39)	P1073S	possibly damaging	Het
Bmp3	T	G	5: 99,020,434 (GRCm39)	S286A	probably damaging	Het
Cacna2d4	C	T	6: 119,326,116 (GRCm39)	S1078F	probably damaging	Het
Cd101	A	G	3: 100,915,182 (GRCm39)	L799P	probably benign	Het
Chst13	C	T	6: 90,302,062 (GRCm39)	R28H	possibly damaging	Het
CN725425	T	A	15: 91,130,308 (GRCm39)	C390*	probably null	Het
Crabp1	C	A	9: 54,672,942 (GRCm39)	C82*	probably null	Het
Cyp2b23	A	C	7: 26,372,559 (GRCm39)	V352G	probably damaging	Het
Dmrta1	T	A	4: 89,577,081 (GRCm39)	V179E	possibly damaging	Het
Ect2l	T	C	10: 18,012,702 (GRCm39)	D839G	possibly damaging	Het
Espnl	A	T	1: 91,272,488 (GRCm39)	E616V	possibly damaging	Het
Fam50b	C	A	13: 34,930,802 (GRCm39)	Q93K	probably benign	Het
Focad	C	T	4: 88,319,407 (GRCm39)	R1539C	unknown	Het
Gm14443	T	A	2: 175,011,163 (GRCm39)	I428L	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gramd1c	C	G	16: 43,812,439 (GRCm39)	A193P	probably benign	Het
Gsn	A	G	2: 35,173,939 (GRCm39)	H54R	probably damaging	Het
Gucy2g	T	A	19: 55,194,712 (GRCm39)	I902F	probably damaging	Het
H2-T9	T	A	17: 36,438,761 (GRCm39)	H210L	possibly damaging	Het
Heg1	T	C	16: 33,539,879 (GRCm39)	S280P	possibly damaging	Het
Herc1	G	T	9: 66,415,506 (GRCm39)	R4827L	probably damaging	Het
Igsf21	A	G	4: 139,884,819 (GRCm39)	C46R	probably damaging	Het
Kansl1	G	T	11: 104,314,979 (GRCm39)	A353D	probably damaging	Het
Kcnab3	A	G	11: 69,222,290 (GRCm39)	Y311C	probably damaging	Het
Kctd18	A	G	1: 58,006,778 (GRCm39)	I24T	possibly damaging	Het
Lrrc4c	A	G	2: 97,461,143 (GRCm39)	I590V	probably benign	Het
Lrrc69	T	C	4: 14,703,946 (GRCm39)	I291M	possibly damaging	Het
Nsun6	A	C	2: 15,001,190 (GRCm39)	C455W	probably damaging	Het
Or12e1	T	A	2: 87,022,434 (GRCm39)	C134*	probably null	Het
Or4c3	A	T	2: 89,852,381 (GRCm39)	F10I	probably damaging	Het
Or5ak22	G	T	2: 85,230,379 (GRCm39)	S166Y	possibly damaging	Het
Or7g19	T	G	9: 18,856,024 (GRCm39)	L27V	probably benign	Het
Orc6	T	C	8: 86,031,873 (GRCm39)	I162T	probably benign	Het
Pex13	A	T	11: 23,599,369 (GRCm39)	S381T	probably benign	Het
Ppil1	G	A	17: 29,480,762 (GRCm39)	H54Y	probably damaging	Het
Prrt4	T	C	6: 29,170,155 (GRCm39)	I766V	probably benign	Het
Rab32	C	T	10: 10,422,159 (GRCm39)	V187M	probably damaging	Het
Sema5a	T	A	15: 32,686,954 (GRCm39)	I1022N	probably damaging	Het
Sipa1l2	T	C	8: 126,191,132 (GRCm39)	T953A	probably damaging	Het
Snapc3	T	C	4: 83,353,431 (GRCm39)	S157P	probably damaging	Het
Spink5	A	G	18: 44,119,393 (GRCm39)	R235G	probably benign	Het
Stx5a	G	A	19: 8,719,692 (GRCm39)	G19D	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Taf4	G	A	2: 179,577,726 (GRCm39)	R532*	probably null	Het
Tmpo	T	A	10: 91,001,892 (GRCm39)	K106*	probably null	Het
Trnt1	T	C	6: 106,746,517 (GRCm39)		probably null	Het
Vmn1r228	A	T	17: 20,996,672 (GRCm39)	I282N	probably damaging	Het
Vps13d	A	T	4: 144,907,684 (GRCm39)		probably null	Het
Zfp703	A	G	8: 27,468,718 (GRCm39)	I51V	unknown	Het
Zfp787	A	G	7: 6,135,190 (GRCm39)	F354L	probably benign	Het
Znrf2	T	C	6: 54,794,332 (GRCm39)	V111A	probably benign	Het
Zwint	G	T	10: 72,492,924 (GRCm39)	R182L	probably benign	Het

Other mutations in Lpcat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01905:Lpcat4	APN	2	112,073,388 (GRCm39)	splice site	probably null
IGL02319:Lpcat4	APN	2	112,074,229 (GRCm39)	missense	probably damaging	1.00
IGL02950:Lpcat4	APN	2	112,074,387 (GRCm39)	missense	possibly damaging	0.95
IGL03046:Lpcat4	UTSW	2	112,072,334 (GRCm39)	synonymous	silent
R0131:Lpcat4	UTSW	2	112,077,093 (GRCm39)	missense	probably damaging	0.99
R0131:Lpcat4	UTSW	2	112,077,093 (GRCm39)	missense	probably damaging	0.99
R0132:Lpcat4	UTSW	2	112,077,093 (GRCm39)	missense	probably damaging	0.99
R0271:Lpcat4	UTSW	2	112,073,590 (GRCm39)	splice site	probably null
R0884:Lpcat4	UTSW	2	112,073,077 (GRCm39)	missense	probably damaging	1.00
R1387:Lpcat4	UTSW	2	112,075,021 (GRCm39)	missense	probably benign
R1731:Lpcat4	UTSW	2	112,074,188 (GRCm39)	missense	probably damaging	1.00
R1988:Lpcat4	UTSW	2	112,072,887 (GRCm39)	missense	possibly damaging	0.80
R2047:Lpcat4	UTSW	2	112,075,142 (GRCm39)	critical splice donor site	probably null
R3924:Lpcat4	UTSW	2	112,077,061 (GRCm39)	missense	possibly damaging	0.54
R4001:Lpcat4	UTSW	2	112,070,296 (GRCm39)	missense	probably benign	0.21
R4326:Lpcat4	UTSW	2	112,076,737 (GRCm39)	missense	probably benign	0.00
R5247:Lpcat4	UTSW	2	112,072,860 (GRCm39)	missense	possibly damaging	0.64
R5959:Lpcat4	UTSW	2	112,070,380 (GRCm39)	missense	possibly damaging	0.88
R7239:Lpcat4	UTSW	2	112,073,052 (GRCm39)	missense	possibly damaging	0.77
R7434:Lpcat4	UTSW	2	112,073,400 (GRCm39)	missense	probably damaging	0.98
R8002:Lpcat4	UTSW	2	112,074,699 (GRCm39)	missense	probably benign	0.21
R9228:Lpcat4	UTSW	2	112,072,418 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACAGCATCCGGAAAGTGAC -3'
(R):5'- TATCGCCTAAGCTGGAGTCC -3'

Sequencing Primer
(F):5'- AAAGTGACCAGGGCGCTC -3'
(R):5'- TAAGCTGGAGTCCTCACCAAG -3'

Posted On

2019-12-20