Incidental Mutation 'R4059:Dgat1'
| ID |
314407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgat1
|
| Ensembl Gene |
ENSMUSG00000022555 |
| Gene Name |
diacylglycerol O-acyltransferase 1 |
| Synonyms |
D15Ertd23e |
| MMRRC Submission |
040970-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R4059 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76386215-76396153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76388371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 182
(A182D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023214]
[ENSMUST00000072838]
[ENSMUST00000227478]
[ENSMUST00000228868]
[ENSMUST00000228371]
[ENSMUST00000226860]
[ENSMUST00000229363]
[ENSMUST00000228757]
[ENSMUST00000226872]
|
| AlphaFold |
Q9Z2A7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023214
AA Change: A182D
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
AA Change: A182D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
162 |
485 |
8.4e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072838
|
| SMART Domains |
Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
14 |
118 |
2.27e-66 |
SMART |
|
Pfam:Vert_HS_TF
|
247 |
414 |
6e-65 |
PFAM |
|
Pfam:Vert_HS_TF
|
412 |
503 |
1.9e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160293
|
| SMART Domains |
Protein: ENSMUSP00000123779
Gene: ENSMUSG00000022555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBOAT
|
41 |
201 |
4.3e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228371
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230505
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228688
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230894
|
| Meta Mutation Damage Score |
0.2551 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to decreased percent body fat, resistance to diet-induced obesity, altered energy, glucose and triglyceride metabolism, alopecia, hair cycle and skin defects, and a lactation failure associated with impaired mammary gland growth during pregnancy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
| Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
| Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
| Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
| Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
| Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
| Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
| Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
| Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
| Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,400,717 (GRCm39) |
I57T |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,688,786 (GRCm39) |
L589P |
probably damaging |
Het |
| Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
| Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,889,769 (GRCm39) |
V566A |
probably benign |
Het |
| Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
| Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
| Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
| Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
| Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,802,395 (GRCm39) |
S638P |
probably benign |
Het |
| Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
| Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
| Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
| Zfp715 |
T |
C |
7: 42,951,155 (GRCm39) |
M48V |
probably benign |
Het |
|
| Other mutations in Dgat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01874:Dgat1
|
APN |
15 |
76,387,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02713:Dgat1
|
APN |
15 |
76,387,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Dgat1
|
UTSW |
15 |
76,395,767 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0894:Dgat1
|
UTSW |
15 |
76,387,199 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1525:Dgat1
|
UTSW |
15 |
76,395,786 (GRCm39) |
missense |
probably benign |
|
|
R1682:Dgat1
|
UTSW |
15 |
76,387,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1740:Dgat1
|
UTSW |
15 |
76,386,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Dgat1
|
UTSW |
15 |
76,386,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Dgat1
|
UTSW |
15 |
76,386,513 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3012:Dgat1
|
UTSW |
15 |
76,387,593 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3154:Dgat1
|
UTSW |
15 |
76,386,721 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4593:Dgat1
|
UTSW |
15 |
76,388,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Dgat1
|
UTSW |
15 |
76,386,394 (GRCm39) |
unclassified |
probably benign |
|
|
R5818:Dgat1
|
UTSW |
15 |
76,386,407 (GRCm39) |
unclassified |
probably benign |
|
|
R5984:Dgat1
|
UTSW |
15 |
76,386,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Dgat1
|
UTSW |
15 |
76,387,493 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7352:Dgat1
|
UTSW |
15 |
76,387,024 (GRCm39) |
nonsense |
probably null |
|
|
R7625:Dgat1
|
UTSW |
15 |
76,387,395 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8529:Dgat1
|
UTSW |
15 |
76,387,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9118:Dgat1
|
UTSW |
15 |
76,386,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAGTATGATGCCAGAGC -3'
(R):5'- TAAGTGGTGCCTATCCCCATTC -3'
Sequencing Primer
(F):5'- CTGCAAGACAGGTGGCTCAG -3'
(R):5'- CATTCTTGCTGAAAGTCACTGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation