Mutagenetix > Incidental Mutation

Incidental Mutation 'R4062:Soat2'

315931

Institutional Source

Beutler Lab

Gene Symbol

Soat2

Ensembl Gene

ENSMUSG00000023045

Gene Name

sterol O-acyltransferase 2

Synonyms

D15Wsu97e, ACAT2

MMRRC Submission

040971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4062 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102058961-102071904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102069526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 396 (T396A)

Ref Sequence

ENSEMBL: ENSMUSP00000023806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023806]

AlphaFold

O88908

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023806
AA Change: T396A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023806
Gene: ENSMUSG00000023045
AA Change: T396A

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
transmembrane domain	121	143	N/A	INTRINSIC
Pfam:MBOAT	147	497	3.3e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160465

SMART Domains

Protein: ENSMUSP00000124628
Gene: ENSMUSG00000023045

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	163	185	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit elevated serum triglyceride levels and are resistant to fatty liver, hyperlipidemia, and gallstone development when fed a high fat, high cholesterol diet. When fed a Western diet homozygous mutant animals exhibit elevated HDL levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Adam17	T	C	12: 21,375,458 (GRCm39)	D787G	probably damaging	Het
Adamtsl4	T	C	3: 95,584,864 (GRCm39)	K935E	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Bnip3l	T	C	14: 67,246,187 (GRCm39)	N16S	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cdc40	A	T	10: 40,725,848 (GRCm39)		probably null	Het
Clec4b1	C	A	6: 123,045,443 (GRCm39)	H55N	probably benign	Het
Cyp4a10	A	T	4: 115,376,898 (GRCm39)	R87S	probably benign	Het
Duoxa2	G	T	2: 122,131,058 (GRCm39)	S73I	probably damaging	Het
Dytn	A	G	1: 63,686,606 (GRCm39)	C355R	probably benign	Het
Emilin3	T	C	2: 160,749,716 (GRCm39)	T631A	probably benign	Het
Ep400	A	T	5: 110,889,847 (GRCm39)	M472K	probably benign	Het
Erap1	G	T	13: 74,811,655 (GRCm39)	M338I	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fanca	T	C	8: 124,001,911 (GRCm39)	T1061A	probably benign	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Gcdh	T	C	8: 85,619,082 (GRCm39)	I152V	probably damaging	Het
Gls	T	C	1: 52,235,907 (GRCm39)	K403E	probably damaging	Het
Gorasp2	T	C	2: 70,509,857 (GRCm39)	C173R	probably damaging	Het
Greb1l	G	A	18: 10,522,150 (GRCm39)	V749I	probably damaging	Het
Hnrnpll	T	C	17: 80,340,201 (GRCm39)	H526R	probably benign	Het
Il18r1	G	A	1: 40,514,096 (GRCm39)	V101I	probably benign	Het
Incenp	A	T	19: 9,861,142 (GRCm39)	M480K	unknown	Het
Isl1	T	A	13: 116,439,626 (GRCm39)	I241F	probably benign	Het
Kdm6a	A	G	X: 18,117,114 (GRCm39)	T266A	probably benign	Het
Lcp1	T	C	14: 75,452,620 (GRCm39)	V442A	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mbnl1	T	C	3: 60,511,176 (GRCm39)	L136P	probably damaging	Het
Mrps24	G	A	11: 5,654,676 (GRCm39)	R93*	probably null	Het
Nkd2	C	T	13: 73,970,809 (GRCm39)	G258R	probably null	Het
Obscn	T	C	11: 58,973,536 (GRCm39)	T1932A	probably damaging	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,004,515 (GRCm39)		probably benign	Het
Ptpn18	A	T	1: 34,512,011 (GRCm39)	H45L	possibly damaging	Het
Rab3il1	T	C	19: 10,003,988 (GRCm39)	S36P	probably benign	Het
Rims1	G	T	1: 22,572,664 (GRCm39)	N512K	probably benign	Het
Rinl	T	C	7: 28,490,140 (GRCm39)	Y60H	probably benign	Het
Scamp2	G	T	9: 57,484,545 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,091 (GRCm39)	S324P	probably damaging	Het
Sh3pxd2b	G	T	11: 32,372,263 (GRCm39)	A477S	probably benign	Het
Tenm2	C	T	11: 35,899,482 (GRCm39)	G2559S	probably damaging	Het
Tpcn1	G	A	5: 120,695,962 (GRCm39)	A97V	possibly damaging	Het
Trdn	A	G	10: 33,133,083 (GRCm39)	E311G	probably benign	Het
Usp13	T	C	3: 32,935,572 (GRCm39)	Y333H	probably damaging	Het
Usp18	A	G	6: 121,238,326 (GRCm39)	T158A	probably benign	Het
Vmn1r118	G	T	7: 20,645,933 (GRCm39)	Q114K	probably damaging	Het
Wwp1	A	T	4: 19,638,644 (GRCm39)	N566K	possibly damaging	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het

Other mutations in Soat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Soat2	APN	15	102,070,550 (GRCm39)	missense	probably damaging	0.96
IGL03093:Soat2	APN	15	102,066,078 (GRCm39)	missense	probably damaging	1.00
R0091:Soat2	UTSW	15	102,066,574 (GRCm39)	missense	probably damaging	1.00
R0391:Soat2	UTSW	15	102,067,188 (GRCm39)	missense	possibly damaging	0.92
R0396:Soat2	UTSW	15	102,059,142 (GRCm39)	unclassified	probably benign
R1078:Soat2	UTSW	15	102,061,573 (GRCm39)	splice site	probably null
R3421:Soat2	UTSW	15	102,065,244 (GRCm39)	splice site	probably benign
R3422:Soat2	UTSW	15	102,065,244 (GRCm39)	splice site	probably benign
R3754:Soat2	UTSW	15	102,065,513 (GRCm39)	missense	probably damaging	1.00
R4623:Soat2	UTSW	15	102,066,144 (GRCm39)	intron	probably benign
R5004:Soat2	UTSW	15	102,069,546 (GRCm39)	missense	probably damaging	1.00
R5808:Soat2	UTSW	15	102,062,460 (GRCm39)	splice site	probably null
R6481:Soat2	UTSW	15	102,070,490 (GRCm39)	missense	probably damaging	1.00
R6595:Soat2	UTSW	15	102,069,028 (GRCm39)	missense	probably damaging	0.98
R6876:Soat2	UTSW	15	102,069,049 (GRCm39)	missense	probably damaging	1.00
R7345:Soat2	UTSW	15	102,071,013 (GRCm39)	missense	probably benign	0.13
R7429:Soat2	UTSW	15	102,062,735 (GRCm39)	missense	probably damaging	1.00
R7572:Soat2	UTSW	15	102,062,456 (GRCm39)	critical splice donor site	probably null
R7653:Soat2	UTSW	15	102,071,013 (GRCm39)	missense	probably damaging	1.00
R7867:Soat2	UTSW	15	102,059,598 (GRCm39)	critical splice donor site	probably null
R7910:Soat2	UTSW	15	102,069,106 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTGGATGATGCAGCAAGG -3'
(R):5'- CCTGTCGGTCCATCTCTGTG -3'

Sequencing Primer
(F):5'- ATGATGCAGCAAGGTTCTCTTC -3'
(R):5'- GAGCTCCATATGTAAGCCTTGAGC -3'

Posted On

2015-05-15