Incidental Mutation 'R8293:Dagla'
ID |
638828 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dagla
|
Ensembl Gene |
ENSMUSG00000035735 |
Gene Name |
diacylglycerol lipase, alpha |
Synonyms |
Nsddr |
MMRRC Submission |
067783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8293 (G1)
|
Quality Score |
222.009 |
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 10229401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[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 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (58/59) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,061,864 (GRCm39) |
S105P |
possibly damaging |
Het |
Acsm1 |
T |
G |
7: 119,237,319 (GRCm39) |
S211A |
possibly damaging |
Het |
Adam4 |
T |
A |
12: 81,467,185 (GRCm39) |
R479* |
probably null |
Het |
Agap3 |
A |
C |
5: 24,692,883 (GRCm39) |
S439R |
probably damaging |
Het |
Arap1 |
A |
T |
7: 101,050,141 (GRCm39) |
H1075L |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,079,029 (GRCm39) |
E1299G |
probably benign |
Het |
Bnip5 |
T |
C |
17: 29,121,864 (GRCm39) |
K468E |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,845,570 (GRCm39) |
I329F |
probably damaging |
Het |
Ccdc9b |
T |
A |
2: 118,591,796 (GRCm39) |
T115S |
probably damaging |
Het |
Cd200r1 |
A |
G |
16: 44,610,084 (GRCm39) |
N101S |
probably benign |
Het |
Ces2b |
A |
C |
8: 105,559,258 (GRCm39) |
T40P |
unknown |
Het |
Cfap221 |
A |
G |
1: 119,909,504 (GRCm39) |
V156A |
possibly damaging |
Het |
Chrm4 |
C |
T |
2: 91,758,563 (GRCm39) |
P324S |
probably benign |
Het |
Chrna1 |
T |
A |
2: 73,400,850 (GRCm39) |
M227L |
probably benign |
Het |
Cntln |
A |
G |
4: 84,952,075 (GRCm39) |
D639G |
probably damaging |
Het |
Cts8 |
A |
G |
13: 61,401,882 (GRCm39) |
V5A |
probably benign |
Het |
Cxcl2 |
A |
T |
5: 91,052,088 (GRCm39) |
T65S |
probably damaging |
Het |
Cyp2c39 |
G |
T |
19: 39,552,411 (GRCm39) |
R368L |
probably benign |
Het |
D630023F18Rik |
A |
T |
1: 65,147,939 (GRCm39) |
S205T |
probably benign |
Het |
Dtnbp1 |
G |
A |
13: 45,084,615 (GRCm39) |
T175I |
probably benign |
Het |
Dtx3 |
A |
G |
10: 127,026,882 (GRCm39) |
L332P |
probably damaging |
Het |
E2f4 |
A |
G |
8: 106,024,451 (GRCm39) |
T27A |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,856,758 (GRCm39) |
F1163L |
unknown |
Het |
Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
Fbxo40 |
T |
C |
16: 36,790,387 (GRCm39) |
D241G |
probably benign |
Het |
Fus |
T |
C |
7: 127,571,749 (GRCm39) |
S184P |
unknown |
Het |
Gabarap |
C |
A |
11: 69,883,498 (GRCm39) |
T87N |
possibly damaging |
Het |
Gbp10 |
A |
C |
5: 105,372,235 (GRCm39) |
V175G |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,646 (GRCm39) |
Y368H |
probably damaging |
Het |
Heca |
A |
G |
10: 17,778,011 (GRCm39) |
Y529H |
probably damaging |
Het |
Incenp |
G |
A |
19: 9,852,497 (GRCm39) |
R714* |
probably null |
Het |
Lvrn |
C |
A |
18: 46,983,632 (GRCm39) |
T125K |
possibly damaging |
Het |
Ms4a6c |
T |
A |
19: 11,455,660 (GRCm39) |
S156R |
probably benign |
Het |
Nab2 |
C |
A |
10: 127,502,266 (GRCm39) |
R21L |
possibly damaging |
Het |
Neb |
A |
T |
2: 52,136,827 (GRCm39) |
M3218K |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,663 (GRCm39) |
D749G |
probably benign |
Het |
Nxpe5 |
A |
T |
5: 138,228,804 (GRCm39) |
Q7L |
probably benign |
Het |
Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
Or4f62 |
A |
T |
2: 111,986,598 (GRCm39) |
M101L |
probably benign |
Het |
Or5p4 |
A |
T |
7: 107,680,269 (GRCm39) |
E89D |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,095,689 (GRCm39) |
I72V |
possibly damaging |
Het |
Pla2g5 |
A |
G |
4: 138,531,917 (GRCm39) |
I29T |
probably damaging |
Het |
Prpf31 |
C |
T |
7: 3,643,917 (GRCm39) |
T499I |
probably damaging |
Het |
Rnf130 |
T |
A |
11: 49,986,623 (GRCm39) |
D322E |
probably benign |
Het |
Ros1 |
T |
C |
10: 51,964,014 (GRCm39) |
N1770D |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,428,548 (GRCm39) |
D202E |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,674,359 (GRCm39) |
I902M |
probably damaging |
Het |
Slc12a8 |
A |
T |
16: 33,361,348 (GRCm39) |
M77L |
probably benign |
Het |
Slc35f2 |
G |
A |
9: 53,724,224 (GRCm39) |
G366D |
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,264,984 (GRCm39) |
D674G |
probably damaging |
Het |
Smok2a |
A |
C |
17: 13,445,791 (GRCm39) |
E456A |
probably benign |
Het |
Stip1 |
T |
C |
19: 7,011,618 (GRCm39) |
N139S |
probably benign |
Het |
Taar8c |
C |
T |
10: 23,977,015 (GRCm39) |
V266M |
probably benign |
Het |
Tank |
T |
A |
2: 61,474,758 (GRCm39) |
I204N |
possibly damaging |
Het |
Tcerg1 |
A |
G |
18: 42,694,020 (GRCm39) |
T714A |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,820,457 (GRCm39) |
F334I |
possibly damaging |
Het |
Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,645,969 (GRCm39) |
S2023T |
possibly damaging |
Het |
Wdfy4 |
T |
C |
14: 32,696,218 (GRCm39) |
H2741R |
|
Het |
Wnt10a |
G |
T |
1: 74,842,376 (GRCm39) |
R284L |
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 |
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 |
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'- TTCCAAGGACTAGGCTCCTTCC -3'
(R):5'- CATACAGTGGCGGATCATCGTG -3'
Sequencing Primer
(F):5'- GGGAGGCACAGAATCATAAATTCCTC -3'
(R):5'- TGGGGGCCACCAAGTGTATC -3'
|
Posted On |
2020-07-28 |