Incidental Mutation 'R6595:Soat2'
| ID |
543497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Soat2
|
| Ensembl Gene |
ENSMUSG00000023045 |
| Gene Name |
sterol O-acyltransferase 2 |
| Synonyms |
D15Wsu97e, ACAT2 |
| MMRRC Submission |
044719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6595 (G1)
|
| Quality Score |
74.0075 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102058961-102071904 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102069028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 351
(I351N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023806]
|
| AlphaFold |
O88908 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023806
AA Change: I351N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023806
Gene: ENSMUSG00000023045
AA Change: I351N
| 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 |
0.3526 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
| Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
| Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,486,710 (GRCm39) |
I275M |
probably damaging |
Het |
| Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,494 (GRCm39) |
D274E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
| Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
| Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,790,515 (GRCm39) |
V301E |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,076,412 (GRCm39) |
D157E |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,578 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
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 |
|
|
R6481:Soat2
|
UTSW |
15 |
102,070,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AATTTCCAAGGGTCAGGGGC -3'
(R):5'- TTGCTGCATCATCCACACAG -3'
Sequencing Primer
(F):5'- AGTCTGTATTTCTGATTTTCAGGCC -3'
(R):5'- ACATTGCTCACGGCTGGAGAC -3'
|
| Posted On |
2019-01-30 |
Incidental Mutation