Incidental Mutation 'R0315:Soat1'
| ID |
25392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Soat1
|
| Ensembl Gene |
ENSMUSG00000026600 |
| Gene Name |
sterol O-acyltransferase 1 |
| Synonyms |
hid, ACAT-1, 8430426K15Rik, Acact |
| MMRRC Submission |
038525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R0315 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156255678-156301898 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 156268083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 275
(K275*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051396]
[ENSMUST00000187507]
[ENSMUST00000189661]
|
| AlphaFold |
Q61263 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051396
AA Change: K275*
|
| SMART Domains |
Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: K275*
| 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 null
Transcript: ENSMUST00000189661
AA Change: K275*
|
| SMART Domains |
Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: K275*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191379
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.9%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,826,378 (GRCm39) |
R409Q |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,838,347 (GRCm39) |
Q825L |
probably damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,545,667 (GRCm39) |
I107V |
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,457,457 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,441,306 (GRCm39) |
V54I |
possibly damaging |
Het |
| Dpys |
T |
G |
15: 39,720,734 (GRCm39) |
I9L |
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,029 (GRCm39) |
G1400C |
unknown |
Het |
| Gm28042 |
T |
C |
2: 119,869,538 (GRCm39) |
L634P |
probably damaging |
Het |
| Gm6712 |
G |
A |
17: 17,536,380 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
G |
13: 111,573,072 (GRCm39) |
E360A |
possibly damaging |
Het |
| Hmgn1 |
A |
C |
16: 95,926,017 (GRCm39) |
I52R |
probably benign |
Het |
| Ing2 |
A |
C |
8: 48,122,125 (GRCm39) |
M141R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,196,053 (GRCm39) |
Y563* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,502,802 (GRCm39) |
T258A |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,624 (GRCm39) |
I1699N |
unknown |
Het |
| Map2k5 |
A |
T |
9: 63,210,433 (GRCm39) |
H185Q |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mroh1 |
C |
T |
15: 76,311,800 (GRCm39) |
A511V |
possibly damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,235 (GRCm39) |
D90G |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,001 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,598 (GRCm39) |
V182D |
possibly damaging |
Het |
| Or5w20 |
A |
T |
2: 87,727,410 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,607,716 (GRCm39) |
S72T |
possibly damaging |
Het |
| Prc1 |
T |
C |
7: 79,963,284 (GRCm39) |
S587P |
probably damaging |
Het |
| Rdh7 |
G |
T |
10: 127,724,265 (GRCm39) |
T73K |
possibly damaging |
Het |
| Runx1 |
T |
C |
16: 92,402,655 (GRCm39) |
N429S |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,845,315 (GRCm39) |
A376T |
possibly damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,217 (GRCm39) |
I363V |
possibly damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,634,970 (GRCm39) |
Q350* |
probably null |
Het |
| Speg |
T |
C |
1: 75,391,780 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Stat5b |
G |
C |
11: 100,679,286 (GRCm39) |
D605E |
probably benign |
Het |
| Susd4 |
G |
A |
1: 182,686,077 (GRCm39) |
R209H |
probably benign |
Het |
| Tlr1 |
T |
G |
5: 65,084,271 (GRCm39) |
D102A |
probably damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,401,462 (GRCm39) |
N154D |
probably damaging |
Het |
| Tmigd3 |
T |
A |
3: 105,824,085 (GRCm39) |
M18K |
probably damaging |
Het |
| Ube2h |
A |
T |
6: 30,241,412 (GRCm39) |
V86E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,283 (GRCm39) |
L613P |
probably damaging |
Het |
| Vmn2r117 |
G |
A |
17: 23,679,139 (GRCm39) |
S695L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,213,825 (GRCm39) |
D427G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,079,314 (GRCm39) |
F2403I |
probably damaging |
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 |
|
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 |
|
|
R2483:Soat1
|
UTSW |
1 |
156,258,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCTGAGTGGGAAACAAGGGTTTGC -3'
(R):5'- GAATGCTATTAGCCTGTGTAGCTCTGG -3'
Sequencing Primer
(F):5'- CATGGATGCTCAGTTACAAGAGTC -3'
(R):5'- GTTCCCTCTGCTTTGACAGA -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation