Incidental Mutation 'R4933:Dagla'
| ID |
380750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dagla
|
| Ensembl Gene |
ENSMUSG00000035735 |
| Gene Name |
diacylglycerol lipase, alpha |
| Synonyms |
Nsddr |
| MMRRC Submission |
042533-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 10247079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039327]
[ENSMUST00000039327]
[ENSMUST00000125567]
|
| AlphaFold |
Q6WQJ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039327
|
| SMART Domains |
Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
| 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 null
Transcript: ENSMUST00000039327
|
| SMART Domains |
Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
| 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 |
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
97% (73/75) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,276,226 (GRCm39) |
E643G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,334,839 (GRCm39) |
V1937A |
probably benign |
Het |
| Acot10 |
A |
T |
15: 20,666,416 (GRCm39) |
N108K |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,386 (GRCm39) |
M478K |
probably benign |
Het |
| Akirin1 |
G |
A |
4: 123,630,651 (GRCm39) |
S191F |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,964,426 (GRCm39) |
S145P |
probably damaging |
Het |
| Aurkb |
T |
C |
11: 68,938,970 (GRCm39) |
|
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,877,549 (GRCm39) |
|
probably benign |
Het |
| Ccp110 |
A |
G |
7: 118,324,542 (GRCm39) |
E688G |
probably damaging |
Het |
| Champ1 |
T |
A |
8: 13,929,137 (GRCm39) |
S432T |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,875,209 (GRCm39) |
N633I |
probably damaging |
Het |
| Dkkl1 |
A |
T |
7: 44,860,949 (GRCm39) |
L10Q |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fndc7 |
G |
T |
3: 108,783,986 (GRCm39) |
Q208K |
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,724,796 (GRCm39) |
C53S |
probably damaging |
Het |
| Gja8 |
T |
A |
3: 96,826,351 (GRCm39) |
|
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,734 (GRCm39) |
N328K |
probably benign |
Het |
| Haus6 |
A |
C |
4: 86,503,524 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,091,389 (GRCm39) |
|
probably benign |
Het |
| Ide |
A |
G |
19: 37,255,155 (GRCm39) |
Y883H |
unknown |
Het |
| Igf2r |
A |
G |
17: 12,910,764 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,943,446 (GRCm39) |
Y723H |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,079,063 (GRCm39) |
|
probably null |
Het |
| Lancl1 |
A |
T |
1: 67,060,193 (GRCm39) |
N77K |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,349 (GRCm39) |
N920K |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,933,963 (GRCm39) |
V3554I |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,136,386 (GRCm39) |
A2163T |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,384,734 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
A |
15: 25,781,204 (GRCm39) |
Q154K |
probably damaging |
Het |
| Or2a7 |
C |
T |
6: 43,151,255 (GRCm39) |
L112F |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,441 (GRCm39) |
I214T |
probably damaging |
Het |
| Pcdhgb2 |
G |
A |
18: 37,825,267 (GRCm39) |
V753M |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,117,013 (GRCm39) |
L195Q |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
| Ppp1r21 |
T |
A |
17: 88,855,049 (GRCm39) |
D109E |
probably benign |
Het |
| Prr15l |
G |
A |
11: 96,825,588 (GRCm39) |
G73S |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,339 (GRCm39) |
F219S |
probably benign |
Het |
| Rnpep |
C |
A |
1: 135,194,764 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,803,723 (GRCm39) |
T643A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,960,831 (GRCm39) |
C36S |
probably damaging |
Het |
| Shc3 |
G |
T |
13: 51,596,805 (GRCm39) |
T406N |
probably benign |
Het |
| Slit3 |
G |
T |
11: 35,579,420 (GRCm39) |
G1199V |
probably damaging |
Het |
| Spata6l |
G |
T |
19: 28,919,175 (GRCm39) |
H195N |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,880,601 (GRCm39) |
|
noncoding transcript |
Het |
| St8sia6 |
T |
C |
2: 13,670,253 (GRCm39) |
N236D |
probably damaging |
Het |
| Stpg1 |
A |
T |
4: 135,233,727 (GRCm39) |
Q3L |
probably benign |
Het |
| Sult3a1 |
T |
A |
10: 33,742,550 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,958 (GRCm39) |
I180L |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,832,247 (GRCm39) |
N446K |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,553,402 (GRCm39) |
I618N |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,812,371 (GRCm39) |
N182S |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,521 (GRCm39) |
Y30H |
probably damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
Het |
| Zswim2 |
A |
G |
2: 83,755,571 (GRCm39) |
L110P |
probably 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 |
|
R0638:Dagla
|
UTSW |
19 |
10,232,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- CCTGGACAGTTCTGTGTCTG -3'
(R):5'- CACAATGCAAGAGATCAGGC -3'
Sequencing Primer
(F):5'- ACAGTTCTGTGTCTGCTGCTG -3'
(R):5'- CAGAGCCAGGATGAGGTTCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation