Incidental Mutation 'R6640:Mogat1'
| ID |
525693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mogat1
|
| Ensembl Gene |
ENSMUSG00000012187 |
| Gene Name |
monoacylglycerol O-acyltransferase 1 |
| Synonyms |
mDC2, 0610030A14Rik, Dgat2l1, MGAT1, 1110064N14Rik |
| MMRRC Submission |
044761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78487628-78514810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 78500411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 158
(S158R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012331]
[ENSMUST00000113524]
[ENSMUST00000134947]
[ENSMUST00000149732]
[ENSMUST00000152111]
|
| AlphaFold |
Q91ZV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012331
AA Change: S158R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000012331
Gene: ENSMUSG00000012187
AA Change: S158R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
40 |
335 |
3.2e-117 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113524
AA Change: S158R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109152
Gene: ENSMUSG00000012187
AA Change: S158R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
40 |
335 |
3.2e-117 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134947
AA Change: S158R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116178
Gene: ENSMUSG00000012187
AA Change: S158R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
40 |
201 |
2.9e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149732
AA Change: S127R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117903
Gene: ENSMUSG00000012187
AA Change: S127R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
9 |
247 |
3.4e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152111
|
| SMART Domains |
Protein: ENSMUSP00000123427
Gene: ENSMUSG00000012187
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
40 |
82 |
1.9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.3637 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight in female, but not, male mice and does not ameliorate hepatic steatosis in lipodystrophic or obese mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,530,248 (GRCm39) |
N936K |
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,337,015 (GRCm39) |
Y2318F |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,868 (GRCm39) |
T469A |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,605 (GRCm39) |
D581G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,412,959 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,628 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,001,276 (GRCm39) |
W3973R |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,511,555 (GRCm39) |
S1518* |
probably null |
Het |
| Elovl5 |
C |
A |
9: 77,887,195 (GRCm39) |
Y195* |
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,684,822 (GRCm39) |
W309R |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpx1 |
A |
G |
9: 108,217,295 (GRCm39) |
D133G |
probably damaging |
Het |
| Hoxd1 |
T |
A |
2: 74,593,606 (GRCm39) |
V54E |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,139,649 (GRCm39) |
V876A |
probably benign |
Het |
| Klri2 |
G |
C |
6: 129,709,158 (GRCm39) |
F231L |
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,313,247 (GRCm39) |
I214F |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,520,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,911,167 (GRCm39) |
A673T |
possibly damaging |
Het |
| Pigm |
T |
C |
1: 172,205,254 (GRCm39) |
V330A |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Raver2 |
C |
T |
4: 100,988,500 (GRCm39) |
P371L |
probably damaging |
Het |
| Rpl15-ps6 |
G |
T |
15: 52,341,016 (GRCm39) |
|
noncoding transcript |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,705 (GRCm39) |
Y163N |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,871,970 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,401 (GRCm39) |
Y563F |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,801,458 (GRCm39) |
L185P |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,893,630 (GRCm39) |
D850G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
A |
10: 105,409,610 (GRCm39) |
M1L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,955,946 (GRCm39) |
I1126K |
probably damaging |
Het |
| Ugt1a6b |
A |
C |
1: 88,035,516 (GRCm39) |
T285P |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,617,842 (GRCm39) |
T1181A |
possibly damaging |
Het |
|
| Other mutations in Mogat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0056:Mogat1
|
UTSW |
1 |
78,500,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0056:Mogat1
|
UTSW |
1 |
78,500,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0105:Mogat1
|
UTSW |
1 |
78,500,307 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0105:Mogat1
|
UTSW |
1 |
78,500,307 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0357:Mogat1
|
UTSW |
1 |
78,488,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1146:Mogat1
|
UTSW |
1 |
78,500,250 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1146:Mogat1
|
UTSW |
1 |
78,500,250 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1716:Mogat1
|
UTSW |
1 |
78,514,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3799:Mogat1
|
UTSW |
1 |
78,505,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4168:Mogat1
|
UTSW |
1 |
78,488,672 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5485:Mogat1
|
UTSW |
1 |
78,500,307 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5929:Mogat1
|
UTSW |
1 |
78,500,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6841:Mogat1
|
UTSW |
1 |
78,499,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Mogat1
|
UTSW |
1 |
78,499,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8179:Mogat1
|
UTSW |
1 |
78,504,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9708:Mogat1
|
UTSW |
1 |
78,488,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9788:Mogat1
|
UTSW |
1 |
78,499,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Mogat1
|
UTSW |
1 |
78,505,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTACGTGAACATGCTGTAGC -3'
(R):5'- TCCACAGAGCATAGGAAGTGTAAC -3'
Sequencing Primer
(F):5'- GCTGTAGCTTGTCAAAACGC -3'
(R):5'- GAAGTGTAACATCAAGCAACTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation