Incidental Mutation 'IGL00537:Soat1'
| ID |
14182 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Soat1
|
| Ensembl Gene |
ENSMUSG00000026600 |
| Gene Name |
sterol O-acyltransferase 1 |
| Synonyms |
hid, ACAT-1, 8430426K15Rik, Acact |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
IGL00537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156255678-156301898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156294300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 13
(N13K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051396]
[ENSMUST00000187507]
[ENSMUST00000188027]
[ENSMUST00000189661]
|
| AlphaFold |
Q61263 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051396
AA Change: N13K
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000058344
Gene: ENSMUSG00000026600
AA Change: N13K
| 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: ENSMUST00000187073
|
| 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 benign
Transcript: ENSMUST00000188027
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189661
AA Change: N13K
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140721
Gene: ENSMUSG00000026600
AA Change: N13K
| 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
|
| Coding Region Coverage |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcap29 |
C |
A |
12: 31,667,095 (GRCm39) |
E189* |
probably null |
Het |
| Chd5 |
T |
C |
4: 152,445,059 (GRCm39) |
Y347H |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,000,150 (GRCm39) |
N116K |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,458,848 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
C |
A |
11: 30,889,591 (GRCm39) |
V185L |
probably benign |
Het |
| Glb1l3 |
T |
A |
9: 26,740,346 (GRCm39) |
Y328F |
probably damaging |
Het |
| Gnao1 |
G |
A |
8: 94,538,308 (GRCm39) |
V50M |
probably damaging |
Het |
| Mcpt4 |
T |
C |
14: 56,298,487 (GRCm39) |
T83A |
probably benign |
Het |
| Mefv |
T |
C |
16: 3,528,824 (GRCm39) |
Y539C |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,455,388 (GRCm39) |
I4050F |
possibly damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,363,443 (GRCm39) |
T621M |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,546,383 (GRCm39) |
S304P |
probably benign |
Het |
| Rptor |
C |
T |
11: 119,690,271 (GRCm39) |
P372L |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,657,409 (GRCm39) |
T1787S |
probably benign |
Het |
| Wfdc12 |
A |
T |
2: 164,032,387 (GRCm39) |
L18Q |
probably null |
Het |
| Zfp955b |
T |
C |
17: 33,521,847 (GRCm39) |
F439L |
probably damaging |
Het |
| Zmym4 |
G |
A |
4: 126,783,851 (GRCm39) |
S1125L |
probably benign |
Het |
|
| Other mutations in Soat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation