Incidental Mutation 'R2939:Dagla'
ID |
264608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dagla
|
Ensembl Gene |
ENSMUSG00000035735 |
Gene Name |
diacylglycerol lipase, alpha |
Synonyms |
Nsddr |
MMRRC Submission |
040516-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2939 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 10233728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Cysteine
at position 382
(F382C)
|
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: F382C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046358 Gene: ENSMUSG00000035735 AA Change: F382C
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 |
0.9246 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
98% (62/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
C |
9: 107,808,409 (GRCm39) |
Y911H |
possibly damaging |
Het |
Arhgef26 |
A |
C |
3: 62,288,331 (GRCm39) |
K467T |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
Atm |
T |
C |
9: 53,406,011 (GRCm39) |
Y1219C |
probably damaging |
Het |
Azin2 |
C |
T |
4: 128,828,397 (GRCm39) |
C270Y |
probably benign |
Het |
Brsk1 |
A |
T |
7: 4,711,139 (GRCm39) |
I545F |
possibly damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Cfap410 |
A |
G |
10: 77,817,507 (GRCm39) |
N78S |
probably benign |
Het |
Cfap69 |
G |
A |
5: 5,694,432 (GRCm39) |
A143V |
probably damaging |
Het |
Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
Col5a3 |
T |
C |
9: 20,706,954 (GRCm39) |
K714R |
unknown |
Het |
Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Eif5 |
T |
C |
12: 111,506,713 (GRCm39) |
C102R |
probably damaging |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,364,577 (GRCm39) |
V223A |
possibly damaging |
Het |
Garin4 |
T |
C |
1: 190,896,103 (GRCm39) |
D180G |
possibly damaging |
Het |
Gpatch8 |
A |
G |
11: 102,399,010 (GRCm39) |
V74A |
unknown |
Het |
Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
Ksr1 |
A |
G |
11: 78,936,007 (GRCm39) |
|
probably null |
Het |
Lama5 |
A |
C |
2: 179,840,747 (GRCm39) |
Y584D |
probably damaging |
Het |
Lgi4 |
C |
T |
7: 30,767,253 (GRCm39) |
R427* |
probably null |
Het |
Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nherf1 |
C |
T |
11: 115,071,270 (GRCm39) |
R335C |
probably damaging |
Het |
Nmnat2 |
C |
A |
1: 152,950,474 (GRCm39) |
S53Y |
probably damaging |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Pcsk7 |
C |
T |
9: 45,827,322 (GRCm39) |
A363V |
probably damaging |
Het |
Pdrg1 |
C |
T |
2: 152,854,355 (GRCm39) |
G62R |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,033,862 (GRCm39) |
I74T |
possibly damaging |
Het |
Plcb4 |
T |
C |
2: 135,781,123 (GRCm39) |
|
probably benign |
Het |
Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
Rph3a |
A |
G |
5: 121,118,212 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Slc1a6 |
G |
T |
10: 78,650,448 (GRCm39) |
*562L |
probably null |
Het |
Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
Slc45a3 |
A |
G |
1: 131,905,637 (GRCm39) |
E206G |
probably damaging |
Het |
Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
Smpd3 |
A |
G |
8: 106,984,039 (GRCm39) |
V560A |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,972,946 (GRCm39) |
K760E |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,676,220 (GRCm39) |
I386T |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Tmprss11e |
G |
A |
5: 86,869,266 (GRCm39) |
R96W |
probably damaging |
Het |
Trim63 |
T |
C |
4: 134,050,308 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Unc79 |
C |
T |
12: 102,957,684 (GRCm39) |
T33I |
probably damaging |
Het |
Usp47 |
G |
A |
7: 111,681,743 (GRCm39) |
S518N |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,594 (GRCm39) |
D332V |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,832 (GRCm39) |
L716P |
probably damaging |
Het |
Zfp558 |
T |
C |
9: 18,367,924 (GRCm39) |
N288S |
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 |
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 |
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'- TTGATACCTTGTGGCCCAAC -3'
(R):5'- AATGGAAGGGCTAGGTACCC -3'
Sequencing Primer
(F):5'- TGTCAGGTCAGTCAGGGCATC -3'
(R):5'- GCTAGGTACCCAAGAATCCTCAGTG -3'
|
Posted On |
2015-02-05 |