Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Soat2'

85754

Institutional Source

Beutler Lab

Gene Symbol

Soat2

Ensembl Gene

ENSMUSG00000023045

Gene Name

sterol O-acyltransferase 2

Synonyms

D15Wsu97e, ACAT2

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R1078 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

102058961-102071904 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 102061573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023806] [ENSMUST00000023807]

AlphaFold

O88908

Predicted Effect

probably null
Transcript: ENSMUST00000023806

SMART Domains

Protein: ENSMUSP00000023806
Gene: ENSMUSG00000023045

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: ENSMUST00000023807

SMART Domains

Protein: ENSMUSP00000023807
Gene: ENSMUSG00000023046

Domain	Start	End	E-Value	Type
IB	28	107	3.99e-23	SMART
TY	185	236	1.59e-12	SMART

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	T	C	5: 66,145,698 (GRCm39)	T138A	unknown	Het
Abi3bp	T	C	16: 56,474,444 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,728,348 (GRCm39)	M493L	probably benign	Het
Bace2	C	T	16: 97,158,060 (GRCm39)	A20V	unknown	Het
Bms1	T	C	6: 118,382,182 (GRCm39)	D452G	probably benign	Het
Ccdc187	T	C	2: 26,184,389 (GRCm39)	T3A	probably damaging	Het
Ctu2	T	C	8: 123,208,238 (GRCm39)	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,534,966 (GRCm39)	K60E	probably benign	Het
Cyp4f13	T	C	17: 33,144,542 (GRCm39)	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,637,023 (GRCm39)	T485M	probably damaging	Het
Dsp	C	T	13: 38,367,082 (GRCm39)		probably benign	Het
Ell2	T	C	13: 75,894,538 (GRCm39)		probably benign	Het
Eml2	A	T	7: 18,913,687 (GRCm39)	Y168F	probably benign	Het
Entrep1	T	A	19: 23,950,939 (GRCm39)	R547S	probably benign	Het
Ep400	C	T	5: 110,883,388 (GRCm39)		probably benign	Het
Ercc4	C	A	16: 12,948,061 (GRCm39)	A336D	probably benign	Het
Fat4	T	C	3: 39,037,235 (GRCm39)	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833 (GRCm39)	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,503,877 (GRCm39)	W108R	probably damaging	Het
Gtse1	C	T	15: 85,746,508 (GRCm39)	P108L	probably damaging	Het
Hfm1	A	T	5: 107,026,696 (GRCm39)	F140I	probably damaging	Het
Hyal2	T	A	9: 107,449,445 (GRCm39)	H400Q	probably benign	Het
Igfn1	A	G	1: 135,902,585 (GRCm39)	Y371H	probably damaging	Het
Il22b	T	G	10: 118,126,056 (GRCm39)	*180C	probably null	Het
Kdm2b	T	C	5: 123,099,604 (GRCm39)	T118A	possibly damaging	Het
Lama5	A	T	2: 179,821,557 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmo7	C	T	14: 102,157,910 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,388,457 (GRCm39)	P2323T	unknown	Het
Lrrc38	A	G	4: 143,077,088 (GRCm39)	Y117C	probably benign	Het
Myo1e	T	C	9: 70,291,281 (GRCm39)	V1024A	probably benign	Het
Myrfl	T	C	10: 116,612,637 (GRCm39)	N904S	possibly damaging	Het
Or12d13	T	A	17: 37,647,917 (GRCm39)	I69F	probably damaging	Het
Or4k47	T	C	2: 111,451,690 (GRCm39)	H243R	probably damaging	Het
Or9g4b	T	C	2: 85,616,437 (GRCm39)	V194A	possibly damaging	Het
Pld4	A	T	12: 112,729,876 (GRCm39)	I53F	probably benign	Het
Plekhg4	T	A	8: 106,108,309 (GRCm39)	C1117*	probably null	Het
Prss39	G	A	1: 34,541,167 (GRCm39)	E224K	probably benign	Het
Psme1	G	T	14: 55,818,107 (GRCm39)	G149V	probably damaging	Het
Sanbr	A	C	11: 23,561,762 (GRCm39)	I358S	probably benign	Het
Stab2	C	T	10: 86,742,997 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,731,627 (GRCm39)	T127A	probably benign	Het
Tcp1	T	C	17: 13,142,091 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,899,434 (GRCm39)		probably benign	Het
Tmf1	T	C	6: 97,150,261 (GRCm39)	D482G	probably damaging	Het
Trim66	G	T	7: 109,071,526 (GRCm39)	P591H	probably damaging	Het
Umodl1	T	C	17: 31,178,347 (GRCm39)	S108P	probably benign	Het
Unc79	T	G	12: 103,041,112 (GRCm39)	M715R	probably benign	Het
Usp34	C	A	11: 23,383,175 (GRCm39)		probably benign	Het
Utrn	T	G	10: 12,331,310 (GRCm39)		probably null	Het
Zfp830	T	C	11: 82,656,165 (GRCm39)		probably null	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
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
R4062:Soat2	UTSW	15	102,069,526 (GRCm39)	missense	possibly damaging	0.85
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'- CAATGATTGAGGACTGGAGGCCAC -3'
(R):5'- GCCTTGCATTCAGCTAGAGGAACAC -3'

Sequencing Primer
(F):5'- gctcaaaatcgccactctc -3'
(R):5'- TCAGCTAGAGGAACACTGTCTTG -3'

Posted On

2013-11-18