Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Soat2'

20239

Institutional Source

Beutler Lab

Gene Symbol

Soat2

Ensembl Gene

ENSMUSG00000023045

Gene Name

sterol O-acyltransferase 2

Synonyms

D15Wsu97e, ACAT2

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

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

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

102058961-102071904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102066574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 285 (Y285C)

Ref Sequence

ENSEMBL: ENSMUSP00000023806 (fasta)

Gene Model

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

AlphaFold

O88908

Predicted Effect

probably damaging
Transcript: ENSMUST00000023806
AA Change: Y285C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023806
Gene: ENSMUSG00000023045
AA Change: Y285C

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

unknown
Transcript: ENSMUST00000160465
AA Change: Y255C

SMART Domains

Protein: ENSMUSP00000124628
Gene: ENSMUSG00000023045
AA Change: Y255C

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

0.9328

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		probably benign	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
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
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'- CTACATGAGCATTCTCAGGCCCAC -3'
(R):5'- TCATGGCAATGTCCAGGGCAAAG -3'

Sequencing Primer
(F):5'- TTCTGAGAGAACCACGGTTAC -3'
(R):5'- GGAAGGCGCAGACTGTTTC -3'

Posted On

2013-04-11