Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:Agpat1'

285394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agpat1

Ensembl Gene

ENSMUSG00000034254

Gene Name

1-acylglycerol-3-phosphate O-acyltransferase 1

Synonyms

Lpaat-alpha, 1-AGP

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

34823236-34832423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34829536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 37 (F37L)

Ref Sequence

ENSEMBL: ENSMUSP00000134242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015611] [ENSMUST00000037489] [ENSMUST00000097345] [ENSMUST00000114140] [ENSMUST00000168353] [ENSMUST00000173242] [ENSMUST00000173973] [ENSMUST00000174041] [ENSMUST00000174228] [ENSMUST00000174595]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015611

SMART Domains

Protein: ENSMUSP00000015611
Gene: ENSMUSG00000015467

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:EMI	36	102	4.3e-20	PFAM
EGF	113	142	5.49e-3	SMART
EGF_CA	144	184	2.58e-8	SMART
coiled coil region	206	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037489
AA Change: F37L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254
AA Change: F37L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	210	4.64e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097345

SMART Domains

Protein: ENSMUSP00000094958
Gene: ENSMUSG00000015467

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:EMI	34	104	3e-16	PFAM
EGF	113	142	5.49e-3	SMART
EGF_CA	144	184	2.58e-8	SMART
coiled coil region	206	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114140
AA Change: F37L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109776
Gene: ENSMUSG00000034254
AA Change: F37L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	210	4.64e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168327

Predicted Effect

probably benign
Transcript: ENSMUST00000168353

SMART Domains

Protein: ENSMUSP00000128433
Gene: ENSMUSG00000015467

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:EMI	34	104	7.4e-16	PFAM
EGF	113	142	5.49e-3	SMART
EGF_CA	144	184	2.58e-8	SMART
coiled coil region	206	228	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173242
AA Change: F37L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254
AA Change: F37L

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
Pfam:Acyltransferase	80	149	1.2e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173973
AA Change: F37L

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254
AA Change: F37L

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174041
AA Change: F37L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254
AA Change: F37L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	198	6.63e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174228
AA Change: F37L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254
AA Change: F37L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174595
AA Change: F37L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134358
Gene: ENSMUSG00000034254
AA Change: F37L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	210	4.64e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173146

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 an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,063,738 (GRCm39)	V282A	probably benign	Het
Acsm5	A	G	7: 119,131,089 (GRCm39)	D169G	probably damaging	Het
Adam8	C	T	7: 139,568,719 (GRCm39)		probably null	Het
Asah2	A	T	19: 31,994,114 (GRCm39)	D410E	probably benign	Het
Atg2a	T	A	19: 6,296,830 (GRCm39)	V378D	probably benign	Het
Atp1a4	T	C	1: 172,082,452 (GRCm39)	Y130C	possibly damaging	Het
Bnc2	T	C	4: 84,211,313 (GRCm39)	H419R	possibly damaging	Het
Capza3	A	G	6: 139,987,641 (GRCm39)	D80G	probably benign	Het
Col6a4	C	T	9: 105,945,277 (GRCm39)	D946N	probably benign	Het
Crat	T	C	2: 30,303,194 (GRCm39)	H31R	probably damaging	Het
Dsc2	A	G	18: 20,176,790 (GRCm39)	V419A	probably damaging	Het
Ebf1	T	C	11: 44,863,739 (GRCm39)	V363A	probably damaging	Het
Lcp2	T	C	11: 33,997,424 (GRCm39)	F24S	probably damaging	Het
Lgmn	G	A	12: 102,361,973 (GRCm39)	T376I	probably benign	Het
Lrrc8d	C	T	5: 105,959,730 (GRCm39)	L47F	probably benign	Het
Mier1	T	A	4: 102,988,259 (GRCm39)	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,789,615 (GRCm39)	Q439K	probably benign	Het
Or6aa1	A	C	7: 86,044,286 (GRCm39)	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,036,421 (GRCm39)	F216C	probably damaging	Het
Pcnt	C	T	10: 76,225,308 (GRCm39)	R1732K	probably benign	Het
Pramel17	T	C	4: 101,694,055 (GRCm39)	Y276C	probably benign	Het
Pramel31	A	G	4: 144,089,231 (GRCm39)	K183R	probably damaging	Het
Rbbp4	A	T	4: 129,211,543 (GRCm39)	H370Q	probably damaging	Het
Reln	A	G	5: 22,109,729 (GRCm39)	V3127A	probably damaging	Het
Rttn	T	A	18: 89,060,355 (GRCm39)	V1019E	probably damaging	Het
Serpina9	C	T	12: 103,974,859 (GRCm39)	R98Q	probably benign	Het
Slc16a7	C	A	10: 125,066,667 (GRCm39)	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,678,697 (GRCm39)	L209P	probably damaging	Het
Tet1	T	A	10: 62,649,513 (GRCm39)	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,311,448 (GRCm39)	T74M	probably damaging	Het
Ube3a	A	G	7: 58,938,144 (GRCm39)		probably benign	Het
Ufl1	A	T	4: 25,281,686 (GRCm39)	S23T	probably benign	Het
Unc80	A	G	1: 66,647,587 (GRCm39)	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,210,416 (GRCm39)	I1801N	probably damaging	Het

Other mutations in Agpat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0359:Agpat1	UTSW	17	34,829,551 (GRCm39)	missense	probably benign	0.27
R7439:Agpat1	UTSW	17	34,829,883 (GRCm39)	missense	probably damaging	1.00
R7441:Agpat1	UTSW	17	34,829,883 (GRCm39)	missense	probably damaging	1.00
R8113:Agpat1	UTSW	17	34,830,586 (GRCm39)	missense	probably damaging	0.98
R9229:Agpat1	UTSW	17	34,830,663 (GRCm39)	missense	probably null	0.79

Posted On

2015-04-16