Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02529:Agpat5'

297236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agpat5

Ensembl Gene

ENSMUSG00000031467

Gene Name

1-acylglycerol-3-phosphate O-acyltransferase 5

Synonyms

1110013A05Rik, D8Ertd319e

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

IGL02529

Quality Score

Status

Chromosome

Chromosomal Location

18896295-18934429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18931770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 297 (Y297N)

Ref Sequence

ENSEMBL: ENSMUSP00000117025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033847] [ENSMUST00000149565]

AlphaFold

Q9D1E8

Predicted Effect

probably benign
Transcript: ENSMUST00000033847

SMART Domains

Protein: ENSMUSP00000033847
Gene: ENSMUSG00000031467

Domain	Start	End	E-Value	Type
Blast:PlsC	28	73	1e-15	BLAST
PlsC	87	212	6.14e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149565
AA Change: Y297N

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117025
Gene: ENSMUSG00000031467
AA Change: Y297N

Domain	Start	End	E-Value	Type
Blast:PlsC	28	73	4e-15	BLAST
PlsC	87	212	6.14e-24	SMART
Pfam:Acyltransf_C	249	329	6.4e-17	PFAM
transmembrane domain	346	363	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 member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display moderate fatty changes in the liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,190 (GRCm39)	H925L	probably benign	Het
Apobec3	C	T	15: 79,781,888 (GRCm39)		probably benign	Het
Atpaf1	C	A	4: 115,648,466 (GRCm39)	A161E	probably damaging	Het
Bnc1	A	T	7: 81,627,116 (GRCm39)	D91E	probably damaging	Het
Capg	G	A	6: 72,532,829 (GRCm39)	V98I	probably benign	Het
Ccdc7b	C	T	8: 129,904,706 (GRCm39)	L115F	possibly damaging	Het
Ces2a	T	A	8: 105,463,851 (GRCm39)		probably benign	Het
Cldn6	T	G	17: 23,900,291 (GRCm39)	V85G	probably damaging	Het
Clec2e	T	C	6: 129,075,459 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhx38	T	C	8: 110,285,645 (GRCm39)	E396G	probably benign	Het
Dock8	A	T	19: 25,078,290 (GRCm39)	K532*	probably null	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Gmip	G	A	8: 70,269,439 (GRCm39)	G537E	probably damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Hdac3	G	T	18: 38,077,185 (GRCm39)	Q230K	probably benign	Het
Htt	C	T	5: 34,976,387 (GRCm39)		probably benign	Het
Il18r1	A	G	1: 40,526,219 (GRCm39)	D255G	possibly damaging	Het
Krt82	T	A	15: 101,458,831 (GRCm39)	R70*	probably null	Het
Krt9	G	T	11: 100,080,792 (GRCm39)	H353Q	probably damaging	Het
Kyat3	T	C	3: 142,426,235 (GRCm39)	I57T	probably benign	Het
L1td1	A	G	4: 98,625,658 (GRCm39)	K618E	probably benign	Het
Limch1	C	A	5: 67,159,956 (GRCm39)	N617K	possibly damaging	Het
Lsm8	T	C	6: 18,851,651 (GRCm39)	F34S	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Mmrn2	C	A	14: 34,120,570 (GRCm39)	A480E	possibly damaging	Het
Mthfd1	A	G	12: 76,350,483 (GRCm39)	I474V	probably benign	Het
Mycl	A	G	4: 122,890,770 (GRCm39)	K152R	probably damaging	Het
Numa1	A	G	7: 101,649,160 (GRCm39)		probably null	Het
Or5p54	G	T	7: 107,554,423 (GRCm39)	V192F	possibly damaging	Het
Otog	A	C	7: 45,909,381 (GRCm39)	D617A	probably damaging	Het
Ppef2	A	G	5: 92,392,596 (GRCm39)	I267T	probably damaging	Het
Ptprq	A	G	10: 107,471,226 (GRCm39)	Y1392H	probably benign	Het
Rasgrp3	G	T	17: 75,832,097 (GRCm39)	K639N	possibly damaging	Het
Rgs19	C	T	2: 181,330,943 (GRCm39)	R203H	probably benign	Het
Scnn1g	C	A	7: 121,341,669 (GRCm39)		probably benign	Het
Tmem181b-ps	T	C	17: 6,734,320 (GRCm39)		noncoding transcript	Het
Vmn2r118	A	G	17: 55,917,870 (GRCm39)	V214A	possibly damaging	Het
Zfp811	T	C	17: 33,016,789 (GRCm39)	Y417C	probably damaging	Het

Other mutations in Agpat5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Agpat5	APN	8	18,926,148 (GRCm39)	critical splice donor site	probably null
PIT4515001:Agpat5	UTSW	8	18,896,657 (GRCm39)	missense	probably damaging	0.98
R1491:Agpat5	UTSW	8	18,896,739 (GRCm39)	missense	probably damaging	1.00
R1637:Agpat5	UTSW	8	18,931,827 (GRCm39)	missense	probably benign	0.21
R1672:Agpat5	UTSW	8	18,920,930 (GRCm39)	missense	probably benign	0.01
R1913:Agpat5	UTSW	8	18,929,629 (GRCm39)	missense	probably benign	0.44
R1938:Agpat5	UTSW	8	18,928,181 (GRCm39)	missense	probably benign	0.00
R1962:Agpat5	UTSW	8	18,928,026 (GRCm39)	missense	probably damaging	1.00
R3830:Agpat5	UTSW	8	18,929,621 (GRCm39)	missense	probably benign	0.21
R4649:Agpat5	UTSW	8	18,929,668 (GRCm39)	missense	possibly damaging	0.74
R4953:Agpat5	UTSW	8	18,918,971 (GRCm39)	missense	probably benign	0.41
R5268:Agpat5	UTSW	8	18,931,878 (GRCm39)	missense	possibly damaging	0.82
R6351:Agpat5	UTSW	8	18,896,724 (GRCm39)	missense	probably benign	0.02
R8432:Agpat5	UTSW	8	18,896,777 (GRCm39)	missense	probably benign	0.16
R8507:Agpat5	UTSW	8	18,928,043 (GRCm39)	missense	possibly damaging	0.87
R8710:Agpat5	UTSW	8	18,928,105 (GRCm39)	missense	possibly damaging	0.82

Posted On

2015-04-16