Incidental Mutation 'R1675:Dagla'
| ID |
188029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dagla
|
| Ensembl Gene |
ENSMUSG00000035735 |
| Gene Name |
diacylglycerol lipase, alpha |
| Synonyms |
Nsddr |
| MMRRC Submission |
039711-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1675 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10246687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 138
(M138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039327]
[ENSMUST00000125567]
|
| AlphaFold |
Q6WQJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039327
AA Change: M138L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: M138L
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abca12 |
C |
T |
1: 71,302,570 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
C |
12: 113,454,664 (GRCm39) |
Y494H |
probably benign |
Het |
| Adamtsl2 |
GC |
G |
2: 26,972,497 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
G |
A |
2: 25,162,651 (GRCm39) |
V42M |
possibly damaging |
Het |
| Aph1a |
T |
A |
3: 95,802,211 (GRCm39) |
D64E |
possibly damaging |
Het |
| Arhgef11 |
C |
T |
3: 87,638,518 (GRCm39) |
A1111V |
possibly damaging |
Het |
| Atoh1 |
T |
C |
6: 64,707,141 (GRCm39) |
S279P |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,116,475 (GRCm39) |
T941A |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,805,423 (GRCm39) |
R90Q |
possibly damaging |
Het |
| Calr3 |
T |
C |
8: 73,185,302 (GRCm39) |
D91G |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,870,566 (GRCm39) |
D317G |
probably damaging |
Het |
| Cnn3 |
C |
T |
3: 121,250,818 (GRCm39) |
Q19* |
probably null |
Het |
| Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,984,757 (GRCm39) |
E41G |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,106,523 (GRCm39) |
M1738K |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,165,686 (GRCm39) |
S88T |
probably benign |
Het |
| Eno3 |
T |
C |
11: 70,549,492 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
C |
A |
10: 128,407,073 (GRCm39) |
S1029I |
probably damaging |
Het |
| Erbin |
C |
A |
13: 103,977,686 (GRCm39) |
V624L |
probably damaging |
Het |
| Fam170b |
C |
T |
14: 32,557,359 (GRCm39) |
Q65* |
probably null |
Het |
| Gin1 |
T |
A |
1: 97,713,780 (GRCm39) |
L360* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,120,853 (GRCm39) |
D359E |
probably damaging |
Het |
| Gpr107 |
A |
T |
2: 31,057,063 (GRCm39) |
T52S |
possibly damaging |
Het |
| Hip1r |
A |
G |
5: 124,132,883 (GRCm39) |
Y227C |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,268,631 (GRCm39) |
L1004P |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,419 (GRCm39) |
N153D |
probably damaging |
Het |
| Itga8 |
C |
A |
2: 12,204,974 (GRCm39) |
V488L |
probably damaging |
Het |
| Kcnk10 |
G |
A |
12: 98,462,547 (GRCm39) |
A134V |
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,128,748 (GRCm39) |
C406S |
probably benign |
Het |
| Klhl28 |
A |
T |
12: 64,998,593 (GRCm39) |
S300R |
probably damaging |
Het |
| Kmt2e |
C |
T |
5: 23,687,451 (GRCm39) |
Q434* |
probably null |
Het |
| Lilrb4a |
A |
G |
10: 51,372,281 (GRCm39) |
T222A |
probably benign |
Het |
| Lipn |
G |
A |
19: 34,058,110 (GRCm39) |
R277Q |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,708 (GRCm39) |
R177Q |
possibly damaging |
Het |
| Lrrc74a |
G |
A |
12: 86,787,800 (GRCm39) |
E144K |
probably damaging |
Het |
| Mal |
T |
C |
2: 127,476,964 (GRCm39) |
Y77C |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,133,136 (GRCm39) |
C1079* |
probably null |
Het |
| Mbd5 |
T |
A |
2: 49,146,230 (GRCm39) |
S147T |
possibly damaging |
Het |
| Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
| Or1ad8 |
T |
C |
11: 50,898,464 (GRCm39) |
F222L |
probably benign |
Het |
| Or5an1c |
C |
T |
19: 12,218,195 (GRCm39) |
V277I |
probably benign |
Het |
| Or6p1 |
T |
C |
1: 174,258,663 (GRCm39) |
V223A |
probably benign |
Het |
| Rcor2 |
C |
T |
19: 7,247,546 (GRCm39) |
L45F |
probably damaging |
Het |
| Rpl12 |
T |
A |
2: 32,853,537 (GRCm39) |
D107E |
probably benign |
Het |
| Rpl7l1 |
A |
T |
17: 47,089,117 (GRCm39) |
F205I |
probably damaging |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Sema4a |
A |
T |
3: 88,362,073 (GRCm39) |
F18I |
possibly damaging |
Het |
| Slc37a1 |
A |
T |
17: 31,557,048 (GRCm39) |
T405S |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,579,790 (GRCm39) |
D781G |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,619,507 (GRCm39) |
I2241M |
possibly damaging |
Het |
| Tprn |
T |
G |
2: 25,154,421 (GRCm39) |
D574E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,435,163 (GRCm39) |
E429V |
probably damaging |
Het |
| Trit1 |
C |
T |
4: 122,948,029 (GRCm39) |
R450C |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,546,332 (GRCm39) |
|
probably null |
Het |
| Usp49 |
C |
A |
17: 47,984,335 (GRCm39) |
L447I |
probably damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,937 (GRCm39) |
C88R |
probably benign |
Het |
| Zfp94 |
T |
A |
7: 24,002,259 (GRCm39) |
K394N |
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 |
|
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'- TGCCCACCAGTCTTCAAAGCTTAC -3'
(R):5'- ACCTTCTCAAAAGTCTGCTCTGTGC -3'
Sequencing Primer
(F):5'- GTCTTCAAAGCTTACTAGGACGC -3'
(R):5'- TGAGCCTTGCTCTTGAACCT -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation