Incidental Mutation 'R0105:Mogat1'
| ID |
17787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mogat1
|
| Ensembl Gene |
ENSMUSG00000012187 |
| Gene Name |
monoacylglycerol O-acyltransferase 1 |
| Synonyms |
mDC2, 0610030A14Rik, Dgat2l1, MGAT1, 1110064N14Rik |
| MMRRC Submission |
038391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0105 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78487628-78514810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78500307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 124
(T124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012331]
[ENSMUST00000113524]
[ENSMUST00000134947]
[ENSMUST00000149732]
[ENSMUST00000152111]
|
| AlphaFold |
Q91ZV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012331
AA Change: T124A
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000012331
Gene: ENSMUSG00000012187
AA Change: T124A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
40 |
335 |
3.2e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113524
AA Change: T124A
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109152
Gene: ENSMUSG00000012187
AA Change: T124A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
40 |
335 |
3.2e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134947
AA Change: T124A
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116178
Gene: ENSMUSG00000012187
AA Change: T124A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAGAT
|
40 |
201 |
2.9e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149732
AA Change: T93A
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117903
Gene: ENSMUSG00000012187
AA Change: T93A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
| Validation Efficiency |
96% (53/55) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
| Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
| Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
| Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
| Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
| Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
| Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
| Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
| Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
| Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
| Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably 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 |
|
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 |
|
R6640:Mogat1
|
UTSW |
1 |
78,500,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Posted On |
2013-01-31 |
Incidental Mutation