Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Soat1'

578604

Institutional Source

Beutler Lab

Gene Symbol

Soat1

Ensembl Gene

ENSMUSG00000026600

Gene Name

sterol O-acyltransferase 1

Synonyms

ACAT-1, 8430426K15Rik, Acact, hid

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156424525-156474331 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156439317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 310 (W310R)

Ref Sequence

ENSEMBL: ENSMUSP00000058344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051396] [ENSMUST00000187507] [ENSMUST00000189661]

AlphaFold

Q61263

Predicted Effect

probably damaging
Transcript: ENSMUST00000051396
AA Change: W310R

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

SMART Domains

Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: W310R

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

probably benign
Transcript: ENSMUST00000187507

SMART Domains

Protein: ENSMUSP00000139431
Gene: ENSMUSG00000026600

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	141	160	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189661
AA Change: W310R

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

SMART Domains

Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: W310R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,153	G736R	possibly damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Ankar	A	T	1: 72,698,894	V43E	possibly damaging	Het
Apof	A	G	10: 128,269,636	I220V	probably benign	Het
Asxl1	G	T	2: 153,397,785	A499S	probably benign	Het
Baz2a	T	A	10: 128,122,073	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,977,448	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,317,157	R169W	unknown	Het
C5ar1	T	A	7: 16,248,766	I110L	probably benign	Het
C87414	C	T	5: 93,636,240	C455Y	probably damaging	Het
Cd19	C	A	7: 126,411,803	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,196,675	C113*	probably null	Het
Cngb1	C	A	8: 95,254,183	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,504,144	K445E	probably damaging	Het
Crebrf	A	G	17: 26,763,487	M608V	unknown	Het
Csf1	T	A	3: 107,748,875	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,345,120	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,613,785	H1089Y	probably damaging	Het
Ddx60	C	T	8: 61,940,674	T48M	possibly damaging	Het
Dock10	T	C	1: 80,540,315	D1315G	probably damaging	Het
Dock2	T	G	11: 34,695,278	N526H	probably damaging	Het
Dram2	T	C	3: 106,573,683	*268Q	probably null	Het
Emc8	A	G	8: 120,667,918	Y21H	possibly damaging	Het
Fam162a	A	G	16: 36,071,493	L4P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,853,298	I307N	probably benign	Het
Fbxw16	A	G	9: 109,439,551	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,573,247		probably null	Het
Galnt7	A	G	8: 57,584,020	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,428,604	I803T	unknown	Het
Gm10696	A	T	3: 94,176,104	N133K	probably benign	Het
Gm15292	T	A	8: 21,249,894	S45T	probably damaging	Het
Gm28729	A	G	9: 96,521,235	I44T	possibly damaging	Het
Gm5447	A	G	13: 30,974,394	I34V	not run	Het
H2-M9	A	T	17: 36,642,411		probably null	Het
Helz	G	A	11: 107,636,278	C864Y	probably damaging	Het
Il25	A	G	14: 54,933,222	Y84C	probably null	Het
Itga10	T	A	3: 96,648,155	C142S	probably damaging	Het
Kcna10	A	T	3: 107,194,079	M9L	probably damaging	Het
Klhl6	G	T	16: 19,957,113	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,929,546	I40L	possibly damaging	Het
Mdm1	T	C	10: 118,152,266	S334P	probably benign	Het
Mllt10	T	A	2: 18,170,279	D549E	probably benign	Het
Mlxipl	T	C	5: 135,133,628	V648A	probably benign	Het
Nars2	A	G	7: 97,039,930	K353R	probably benign	Het
Nav1	T	A	1: 135,584,909	M138L	probably benign	Het
Neb	T	C	2: 52,193,890	T5635A	probably benign	Het
Nktr	A	C	9: 121,750,327	I1154L	unknown	Het
Olfr1284	T	A	2: 111,379,198	L66Q	probably damaging	Het
Olfr47	T	G	6: 43,236,294	S229A	probably damaging	Het
Olfr761	A	T	17: 37,952,280	V248D	probably damaging	Het
Oxld1	T	C	11: 120,457,137	D78G	probably benign	Het
Pde1b	T	C	15: 103,524,829	I255T	probably benign	Het
Pkp4	T	A	2: 59,308,137	F244I	probably benign	Het
Polg2	C	A	11: 106,773,714	V305L	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Sash1	T	C	10: 8,756,745	D242G	possibly damaging	Het
Six4	T	C	12: 73,112,530	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,563,021	Y562*	probably null	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Spef2	T	C	15: 9,740,585	N30D	probably benign	Het
Srebf2	T	A	15: 82,172,874	I270N	probably damaging	Het
St8sia3	T	C	18: 64,271,518	W289R	probably damaging	Het
Stx5a	T	A	19: 8,743,504		probably benign	Het
Tacc1	T	C	8: 25,164,464	D689G	probably damaging	Het
Tacc3	A	G	5: 33,661,284	D21G	probably benign	Het
Tapt1	G	A	5: 44,188,688	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,131,485	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,470,664	R225K	probably benign	Het
Thumpd3	G	A	6: 113,055,769	G156D	probably benign	Het
Tmem178	C	T	17: 80,944,902	P72S	probably benign	Het
Tmem52	C	T	4: 155,469,469	P46S	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,326,829	V269D	probably benign	Het
Ubr1	A	G	2: 120,889,774		probably null	Het
Upf1	G	A	8: 70,333,423	S962L	probably benign	Het
Vcpip1	C	T	1: 9,746,520	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,988,893	S151R	probably benign	Het
Wac	T	C	18: 7,871,746		probably null	Het
Wrn	C	T	8: 33,335,996		probably null	Het
Zfp286	C	A	11: 62,780,801	D149Y	probably benign	Het
Zfp748	A	G	13: 67,541,972	C390R	probably damaging	Het
Zfp873	A	G	10: 82,060,376	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,551,487	D656N	probably benign	Het
Zmym1	T	A	4: 127,058,935	K18*	probably null	Het

Other mutations in Soat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Soat1	APN	1	156466730	missense	probably benign	0.37
IGL00840:Soat1	APN	1	156434196	missense	probably damaging	1.00
IGL00980:Soat1	APN	1	156441341	missense	probably benign	0.00
IGL02032:Soat1	APN	1	156440575	missense	probably benign	0.00
IGL02177:Soat1	APN	1	156440503	splice site	probably benign
IGL02718:Soat1	APN	1	156441429	missense	probably benign	0.02
IGL02756:Soat1	APN	1	156446575	missense	probably benign
IGL02884:Soat1	APN	1	156441356	missense	possibly damaging	0.88
R0309:Soat1	UTSW	1	156442453	missense	probably damaging	1.00
R0315:Soat1	UTSW	1	156440513	nonsense	probably null
R0492:Soat1	UTSW	1	156441354	missense	probably benign	0.00
R0519:Soat1	UTSW	1	156441246	missense	probably damaging	1.00
R1184:Soat1	UTSW	1	156442374	splice site	probably null
R1187:Soat1	UTSW	1	156434175	missense	probably damaging	1.00
R1310:Soat1	UTSW	1	156441332	missense	possibly damaging	0.92
R1378:Soat1	UTSW	1	156466782	utr 5 prime	probably benign
R1547:Soat1	UTSW	1	156439761	missense	probably damaging	0.98
R1690:Soat1	UTSW	1	156444574	missense	probably benign
R1771:Soat1	UTSW	1	156442421	missense	probably benign
R1776:Soat1	UTSW	1	156442421	missense	probably benign
R2264:Soat1	UTSW	1	156437697	splice site	probably benign
R2483:Soat1	UTSW	1	156431099	missense	probably damaging	1.00
R4838:Soat1	UTSW	1	156432937	missense	probably benign	0.05
R4863:Soat1	UTSW	1	156432328	missense	probably damaging	0.98
R5366:Soat1	UTSW	1	156444611	missense	probably benign	0.00
R5828:Soat1	UTSW	1	156437748	missense	probably benign	0.01
R6381:Soat1	UTSW	1	156435803	missense	probably damaging	0.99
R6583:Soat1	UTSW	1	156466492	splice site	probably null
R7085:Soat1	UTSW	1	156432331	missense	probably damaging	0.97
R7228:Soat1	UTSW	1	156434238	missense	probably damaging	1.00
R7593:Soat1	UTSW	1	156440578	nonsense	probably null
R8098:Soat1	UTSW	1	156446610	missense	probably damaging	1.00
R8837:Soat1	UTSW	1	156434202	missense	probably damaging	1.00
R9300:Soat1	UTSW	1	156441353	missense	probably benign	0.00
R9519:Soat1	UTSW	1	156432209	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AAAGGGGCCCATTTGATTTTG -3'
(R):5'- AGGCTTTGTGGCATACTGTCC -3'

Sequencing Primer
(F):5'- ACTCGATCTGTAGACCAGGCTAG -3'
(R):5'- GTGGCATACTGTCCTATTAAACTAC -3'

Posted On

2019-10-07