Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Soat1'

250626

Institutional Source

Beutler Lab

Gene Symbol

Soat1

Ensembl Gene

ENSMUSG00000026600

Gene Name

sterol O-acyltransferase 1

Synonyms

hid, ACAT-1, 8430426K15Rik, Acact

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156255678-156301898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156258669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 528 (Y528C)

Ref Sequence

ENSEMBL: ENSMUSP00000140721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000189661]

AlphaFold

Q61263

Predicted Effect

probably damaging
Transcript: ENSMUST00000051396
AA Change: Y528C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: Y528C

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
Pfam:MBOAT	161	510	3.9e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187987

Predicted Effect

probably damaging
Transcript: ENSMUST00000189661
AA Change: Y528C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: Y528C

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
Pfam:MBOAT	161	510	1.2e-58	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mutants producing no protein or a truncated protein show depletion of cholesterol esters in adrenal cortex and peritoneal macrophages. Additionally, null mutants have reduced eye openings due to atrophy of meibomian glands or abnromal morphology and arrangement of medullary cells of all hair types. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Ano6	A	T	15: 95,863,855 (GRCm39)	T792S	probably benign	Het
Atm	A	T	9: 53,421,566 (GRCm39)	V715D	probably damaging	Het
Avl9	A	G	6: 56,713,828 (GRCm39)	D362G	probably benign	Het
Bin1	T	A	18: 32,547,280 (GRCm39)	S152R	probably damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Btrc	A	G	19: 45,504,497 (GRCm39)	D397G	probably damaging	Het
Cables2	A	T	2: 179,902,222 (GRCm39)	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,389,221 (GRCm39)	L228P	probably damaging	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cdh26	A	T	2: 178,108,382 (GRCm39)	S327C	probably damaging	Het
Cep78	T	C	19: 15,938,344 (GRCm39)	K535E	probably damaging	Het
Ces1a	A	G	8: 93,753,969 (GRCm39)	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,741,347 (GRCm39)	R2524I	probably damaging	Het
Cracd	A	T	5: 77,004,256 (GRCm39)	I206F	probably damaging	Het
Dctn1	G	A	6: 83,171,169 (GRCm39)	R661H	probably damaging	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Emx1	T	C	6: 85,165,237 (GRCm39)	S105P	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Fam193a	A	T	5: 34,623,102 (GRCm39)	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,347,028 (GRCm39)	Q207R	probably benign	Het
Gm5460	G	A	14: 33,767,775 (GRCm39)	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,783,660 (GRCm39)	I249T	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igfn1	T	C	1: 135,897,275 (GRCm39)	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,161,245 (GRCm39)	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,076,710 (GRCm39)	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,357,758 (GRCm39)	C94G	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Myh1	A	T	11: 67,102,052 (GRCm39)	M811L	probably benign	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,755,565 (GRCm39)	T979A	probably benign	Het
Myo18b	A	T	5: 113,006,274 (GRCm39)	C879S	probably damaging	Het
Myom1	A	G	17: 71,384,807 (GRCm39)	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,215,542 (GRCm39)	C74R	possibly damaging	Het
Obscn	A	G	11: 58,970,972 (GRCm39)	F2514L	probably damaging	Het
Or4a69	G	A	2: 89,313,471 (GRCm39)	Q3*	probably null	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcdha5	G	T	18: 37,094,542 (GRCm39)	M350I	probably benign	Het
Pcdha5	G	A	18: 37,094,834 (GRCm39)	V448M	probably damaging	Het
Pex12	C	T	11: 83,188,455 (GRCm39)	R180H	possibly damaging	Het
Pip4p1	C	G	14: 51,167,749 (GRCm39)	V59L	probably damaging	Het
Pkd1l1	A	T	11: 8,912,701 (GRCm39)	V168E	probably damaging	Het
Prokr2	T	A	2: 132,223,095 (GRCm39)	D149V	probably damaging	Het
Rnf123	A	G	9: 107,940,720 (GRCm39)	V707A	probably benign	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,406,117 (GRCm39)	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,309,260 (GRCm39)		probably null	Het
Shfl	A	T	9: 20,784,473 (GRCm39)	I186F	possibly damaging	Het
Skic3	A	G	13: 76,330,986 (GRCm39)	E1472G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Snapc1	A	G	12: 74,011,417 (GRCm39)	T28A	probably benign	Het
Spem1	G	A	11: 69,712,344 (GRCm39)	R107C	possibly damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,016,388 (GRCm39)	N691K	probably damaging	Het
Syne2	A	T	12: 76,142,311 (GRCm39)	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tenm3	G	A	8: 48,693,305 (GRCm39)	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,030,809 (GRCm39)	V1048D	probably damaging	Het
Vav3	T	C	3: 109,248,482 (GRCm39)	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Wwp2	A	G	8: 108,275,167 (GRCm39)	D388G	probably damaging	Het
Xirp2	A	T	2: 67,355,336 (GRCm39)	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,360,701 (GRCm39)		probably benign	Het

Other mutations in Soat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Soat1	APN	1	156,294,300 (GRCm39)	missense	probably benign	0.37
IGL00840:Soat1	APN	1	156,261,766 (GRCm39)	missense	probably damaging	1.00
IGL00980:Soat1	APN	1	156,268,911 (GRCm39)	missense	probably benign	0.00
IGL02032:Soat1	APN	1	156,268,145 (GRCm39)	missense	probably benign	0.00
IGL02177:Soat1	APN	1	156,268,073 (GRCm39)	splice site	probably benign
IGL02718:Soat1	APN	1	156,268,999 (GRCm39)	missense	probably benign	0.02
IGL02756:Soat1	APN	1	156,274,145 (GRCm39)	missense	probably benign
IGL02884:Soat1	APN	1	156,268,926 (GRCm39)	missense	possibly damaging	0.88
R0309:Soat1	UTSW	1	156,270,023 (GRCm39)	missense	probably damaging	1.00
R0315:Soat1	UTSW	1	156,268,083 (GRCm39)	nonsense	probably null
R0492:Soat1	UTSW	1	156,268,924 (GRCm39)	missense	probably benign	0.00
R0519:Soat1	UTSW	1	156,268,816 (GRCm39)	missense	probably damaging	1.00
R1184:Soat1	UTSW	1	156,269,944 (GRCm39)	splice site	probably null
R1187:Soat1	UTSW	1	156,261,745 (GRCm39)	missense	probably damaging	1.00
R1310:Soat1	UTSW	1	156,268,902 (GRCm39)	missense	possibly damaging	0.92
R1378:Soat1	UTSW	1	156,294,352 (GRCm39)	utr 5 prime	probably benign
R1547:Soat1	UTSW	1	156,267,331 (GRCm39)	missense	probably damaging	0.98
R1690:Soat1	UTSW	1	156,272,144 (GRCm39)	missense	probably benign
R1771:Soat1	UTSW	1	156,269,991 (GRCm39)	missense	probably benign
R1776:Soat1	UTSW	1	156,269,991 (GRCm39)	missense	probably benign
R2264:Soat1	UTSW	1	156,265,267 (GRCm39)	splice site	probably benign
R4838:Soat1	UTSW	1	156,260,507 (GRCm39)	missense	probably benign	0.05
R4863:Soat1	UTSW	1	156,259,898 (GRCm39)	missense	probably damaging	0.98
R5366:Soat1	UTSW	1	156,272,181 (GRCm39)	missense	probably benign	0.00
R5828:Soat1	UTSW	1	156,265,318 (GRCm39)	missense	probably benign	0.01
R6381:Soat1	UTSW	1	156,263,373 (GRCm39)	missense	probably damaging	0.99
R6583:Soat1	UTSW	1	156,294,062 (GRCm39)	splice site	probably null
R7085:Soat1	UTSW	1	156,259,901 (GRCm39)	missense	probably damaging	0.97
R7228:Soat1	UTSW	1	156,261,808 (GRCm39)	missense	probably damaging	1.00
R7464:Soat1	UTSW	1	156,266,887 (GRCm39)	missense	probably damaging	1.00
R7593:Soat1	UTSW	1	156,268,148 (GRCm39)	nonsense	probably null
R8098:Soat1	UTSW	1	156,274,180 (GRCm39)	missense	probably damaging	1.00
R8837:Soat1	UTSW	1	156,261,772 (GRCm39)	missense	probably damaging	1.00
R9300:Soat1	UTSW	1	156,268,923 (GRCm39)	missense	probably benign	0.00
R9519:Soat1	UTSW	1	156,259,779 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACTCCAGGTGAATCATCAGAAAG -3'
(R):5'- CAGTTGAGTTCAGATGCTGTCAG -3'

Sequencing Primer
(F):5'- TCATCAGAAAGGATAGAGAGCCCC -3'
(R):5'- GAAAGCATCTCAGAGCCTTTTGG -3'

Posted On

2014-12-04