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

ACAT2, D15Wsu97e

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1078 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

102150526-102163469 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 102153138 bp (GRCm38)

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
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Soat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Soat2	APN	15	102162115	missense	probably damaging	0.96
IGL03093:Soat2	APN	15	102157643	missense	probably damaging	1.00
R0091:Soat2	UTSW	15	102158139	missense	probably damaging	1.00
R0391:Soat2	UTSW	15	102158753	missense	possibly damaging	0.92
R0396:Soat2	UTSW	15	102150707	unclassified	probably benign
R3421:Soat2	UTSW	15	102156809	splice site	probably benign
R3422:Soat2	UTSW	15	102156809	splice site	probably benign
R3754:Soat2	UTSW	15	102157078	missense	probably damaging	1.00
R4062:Soat2	UTSW	15	102161091	missense	possibly damaging	0.85
R4623:Soat2	UTSW	15	102157709	intron	probably benign
R5004:Soat2	UTSW	15	102161111	missense	probably damaging	1.00
R5808:Soat2	UTSW	15	102154025	splice site	probably null
R6481:Soat2	UTSW	15	102162055	missense	probably damaging	1.00
R6595:Soat2	UTSW	15	102160593	missense	probably damaging	0.98
R6876:Soat2	UTSW	15	102160614	missense	probably damaging	1.00
R7345:Soat2	UTSW	15	102162578	missense	probably benign	0.13
R7429:Soat2	UTSW	15	102154300	missense	probably damaging	1.00
R7572:Soat2	UTSW	15	102154021	critical splice donor site	probably null
R7653:Soat2	UTSW	15	102162578	missense	probably damaging	1.00
R7867:Soat2	UTSW	15	102151163	critical splice donor site	probably null
R7910:Soat2	UTSW	15	102160671	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