Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Soat2'

517132

Institutional Source

Beutler Lab

Gene Symbol

Soat2

Ensembl Gene

ENSMUSG00000023045

Gene Name

sterol O-acyltransferase 2

Synonyms

D15Wsu97e, ACAT2

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

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

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102058961-102071904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102070490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 431 (L431Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023806 (fasta)

Gene Model

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

AlphaFold

O88908

Predicted Effect

probably damaging
Transcript: ENSMUST00000023806
AA Change: L431Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023806
Gene: ENSMUSG00000023045
AA Change: L431Q

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

Meta Mutation Damage Score

0.3947

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgap26	T	A	18: 39,283,110 (GRCm39)	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Coch	T	C	12: 51,644,956 (GRCm39)	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,242,487 (GRCm39)	L241P	probably damaging	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fbxo4	A	G	15: 3,995,216 (GRCm39)	L376P	probably damaging	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Lonp2	G	T	8: 87,361,536 (GRCm39)	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Or5w17	T	C	2: 87,583,812 (GRCm39)	N175S	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Plcd3	T	C	11: 102,968,593 (GRCm39)	Y366C	probably damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (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
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
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
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'- TTAGTATGGGCTGCCACAC -3'
(R):5'- GTCAGAAACCTTTCCCCACG -3'

Sequencing Primer
(F):5'- ATGGGCTGCCACACCCTTC -3'
(R):5'- ACGTCCCTCAGGATATGGATG -3'

Posted On

2018-05-21