Incidental Mutation 'R0638:Dagla'
| ID |
56850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dagla
|
| Ensembl Gene |
ENSMUSG00000035735 |
| Gene Name |
diacylglycerol lipase, alpha |
| Synonyms |
Nsddr |
| MMRRC Submission |
038827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10232247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 480
(I480V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039327]
[ENSMUST00000125567]
|
| AlphaFold |
Q6WQJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039327
AA Change: I480V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: I480V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
|
Pfam:Lipase_3
|
394 |
533 |
1.3e-12 |
PFAM |
|
low complexity region
|
616 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125567
|
| SMART Domains |
Protein: ENSMUSP00000138702
Gene: ENSMUSG00000035735
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156361
|
| Meta Mutation Damage Score |
0.3649 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.5%
|
| Validation Efficiency |
99% (76/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for null mutations have decreased body weight, adult neuronal proliferation, and nervous system endocannaboid levels and abnormal inhibitory postsynaptic currents. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,547,572 (GRCm39) |
Q161K |
probably benign |
Het |
| Aatk |
A |
T |
11: 119,900,748 (GRCm39) |
L1216Q |
probably damaging |
Het |
| Aifm3 |
T |
C |
16: 17,321,535 (GRCm39) |
F463L |
possibly damaging |
Het |
| Antxr2 |
C |
T |
5: 98,108,496 (GRCm39) |
W338* |
probably null |
Het |
| Apc2 |
T |
C |
10: 80,140,801 (GRCm39) |
S219P |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,389 (GRCm39) |
|
probably null |
Het |
| Arrdc5 |
A |
G |
17: 56,607,020 (GRCm39) |
V75A |
possibly damaging |
Het |
| Atg16l2 |
A |
T |
7: 100,949,317 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
A |
G |
15: 80,265,281 (GRCm39) |
N1511S |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,235,032 (GRCm39) |
Y2095H |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,753 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,765 (GRCm39) |
D975G |
probably damaging |
Het |
| Efl1 |
C |
T |
7: 82,301,095 (GRCm39) |
T33I |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,728,060 (GRCm39) |
F74L |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,149 (GRCm39) |
|
probably benign |
Het |
| Fam83h |
G |
T |
15: 75,875,776 (GRCm39) |
H520Q |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,178,446 (GRCm39) |
C1931S |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,581 (GRCm39) |
D96G |
probably benign |
Het |
| Gbp4 |
A |
G |
5: 105,269,706 (GRCm39) |
M374T |
probably damaging |
Het |
| Gimap1 |
C |
T |
6: 48,718,359 (GRCm39) |
|
probably benign |
Het |
| Gm10010 |
A |
G |
6: 128,177,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10355 |
T |
C |
3: 101,214,214 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
C |
T |
8: 70,264,095 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
T |
5: 138,276,796 (GRCm39) |
F110Y |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,468,396 (GRCm39) |
V45M |
probably benign |
Het |
| Il15 |
T |
C |
8: 83,069,890 (GRCm39) |
E58G |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,951,771 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
C |
A |
2: 62,607,854 (GRCm39) |
V576L |
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,772,816 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,235 (GRCm39) |
E416G |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,740 (GRCm39) |
Y526H |
probably damaging |
Het |
| Mtx2 |
T |
C |
2: 74,699,634 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,036 (GRCm39) |
Y496N |
probably benign |
Het |
| Nfyc |
A |
G |
4: 120,626,081 (GRCm39) |
S73P |
probably benign |
Het |
| Or10v9 |
C |
T |
19: 11,832,487 (GRCm39) |
V277M |
probably damaging |
Het |
| Or10v9 |
A |
C |
19: 11,832,732 (GRCm39) |
V195G |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,750 (GRCm39) |
I92F |
probably damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,268,845 (GRCm39) |
I219T |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,101 (GRCm39) |
D119V |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,022,869 (GRCm39) |
V206A |
probably benign |
Het |
| Polg |
G |
A |
7: 79,109,896 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,130,868 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
A |
G |
15: 94,421,298 (GRCm39) |
S671P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,112 (GRCm39) |
T1547A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,001,600 (GRCm39) |
S1685P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,361,036 (GRCm39) |
Y4452H |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,810,670 (GRCm39) |
D229G |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,281,078 (GRCm39) |
S84P |
possibly damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,070,441 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,249,347 (GRCm39) |
D847G |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,027,030 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
C |
15: 66,589,057 (GRCm39) |
T13P |
probably damaging |
Het |
| Timeless |
T |
A |
10: 128,080,542 (GRCm39) |
Y474* |
probably null |
Het |
| Tmem94 |
T |
C |
11: 115,682,886 (GRCm39) |
|
probably null |
Het |
| Trdmt1 |
G |
A |
2: 13,521,459 (GRCm39) |
|
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Txnl1 |
A |
G |
18: 63,825,135 (GRCm39) |
|
probably benign |
Het |
| Unkl |
T |
C |
17: 25,427,057 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,639,437 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,908 (GRCm39) |
K497E |
possibly damaging |
Het |
| Vmn1r49 |
C |
A |
6: 90,049,648 (GRCm39) |
S118I |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,466 (GRCm39) |
K495E |
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 33,005,073 (GRCm39) |
C560Y |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,563 (GRCm39) |
R660G |
probably benign |
Het |
| Zfp280c |
A |
G |
X: 47,637,580 (GRCm39) |
|
probably benign |
Het |
| Zfp707 |
G |
A |
15: 75,846,978 (GRCm39) |
A291T |
possibly damaging |
Het |
|
| Other mutations in Dagla |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Dagla
|
APN |
19 |
10,225,884 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01625:Dagla
|
APN |
19 |
10,228,566 (GRCm39) |
splice site |
probably benign |
|
|
IGL01697:Dagla
|
APN |
19 |
10,248,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01940:Dagla
|
APN |
19 |
10,229,535 (GRCm39) |
missense |
probably benign |
|
|
IGL02330:Dagla
|
APN |
19 |
10,225,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
blondie
|
UTSW |
19 |
10,248,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dagwood
|
UTSW |
19 |
10,247,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Dagla
|
UTSW |
19 |
10,238,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0541:Dagla
|
UTSW |
19 |
10,232,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0610:Dagla
|
UTSW |
19 |
10,248,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Dagla
|
UTSW |
19 |
10,225,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Dagla
|
UTSW |
19 |
10,246,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1822:Dagla
|
UTSW |
19 |
10,240,550 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1830:Dagla
|
UTSW |
19 |
10,248,378 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2303:Dagla
|
UTSW |
19 |
10,229,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Dagla
|
UTSW |
19 |
10,225,516 (GRCm39) |
missense |
probably benign |
|
|
R2879:Dagla
|
UTSW |
19 |
10,248,448 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2902:Dagla
|
UTSW |
19 |
10,225,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2939:Dagla
|
UTSW |
19 |
10,233,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Dagla
|
UTSW |
19 |
10,225,831 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4176:Dagla
|
UTSW |
19 |
10,240,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4255:Dagla
|
UTSW |
19 |
10,234,316 (GRCm39) |
nonsense |
probably null |
|
|
R4519:Dagla
|
UTSW |
19 |
10,247,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Dagla
|
UTSW |
19 |
10,248,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Dagla
|
UTSW |
19 |
10,248,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Dagla
|
UTSW |
19 |
10,225,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Dagla
|
UTSW |
19 |
10,227,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4933:Dagla
|
UTSW |
19 |
10,247,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5844:Dagla
|
UTSW |
19 |
10,248,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Dagla
|
UTSW |
19 |
10,232,332 (GRCm39) |
intron |
probably benign |
|
|
R5958:Dagla
|
UTSW |
19 |
10,225,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6628:Dagla
|
UTSW |
19 |
10,240,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Dagla
|
UTSW |
19 |
10,234,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Dagla
|
UTSW |
19 |
10,233,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7253:Dagla
|
UTSW |
19 |
10,239,945 (GRCm39) |
splice site |
probably null |
|
|
R7451:Dagla
|
UTSW |
19 |
10,230,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Dagla
|
UTSW |
19 |
10,225,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7941:Dagla
|
UTSW |
19 |
10,248,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7980:Dagla
|
UTSW |
19 |
10,229,406 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8293:Dagla
|
UTSW |
19 |
10,229,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8327:Dagla
|
UTSW |
19 |
10,228,451 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8442:Dagla
|
UTSW |
19 |
10,248,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8442:Dagla
|
UTSW |
19 |
10,240,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8717:Dagla
|
UTSW |
19 |
10,225,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8728:Dagla
|
UTSW |
19 |
10,225,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Dagla
|
UTSW |
19 |
10,246,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Dagla
|
UTSW |
19 |
10,228,525 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9275:Dagla
|
UTSW |
19 |
10,232,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Dagla
|
UTSW |
19 |
10,248,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Dagla
|
UTSW |
19 |
10,233,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Dagla
|
UTSW |
19 |
10,232,218 (GRCm39) |
nonsense |
probably null |
|
|
R9539:Dagla
|
UTSW |
19 |
10,228,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9605:Dagla
|
UTSW |
19 |
10,233,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Dagla
|
UTSW |
19 |
10,248,528 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTGTATCAGAAGCTGGGCTGC -3'
(R):5'- ACCAAGCCTTTGCTCTGTGAGGAC -3'
Sequencing Primer
(F):5'- GGCTGCCCAGTCCAACC -3'
(R):5'- CTCTGTGAGGACCTAGCTTGAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation