Incidental Mutation 'R9498:Dagla'
| ID |
717400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dagla
|
| Ensembl Gene |
ENSMUSG00000035735 |
| Gene Name |
diacylglycerol lipase, alpha |
| Synonyms |
Nsddr |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 10232218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 489
(Y489*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039327]
[ENSMUST00000125567]
|
| AlphaFold |
Q6WQJ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039327
AA Change: Y489*
|
| SMART Domains |
Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: Y489*
| 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: 98.9%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Aadacl3 |
A |
G |
4: 144,182,989 (GRCm39) |
Y160H |
probably damaging |
Het |
| Abca17 |
T |
C |
17: 24,484,480 (GRCm39) |
Y1594C |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,977,374 (GRCm39) |
I128M |
probably damaging |
Het |
| Abhd12b |
A |
G |
12: 70,210,237 (GRCm39) |
I138V |
probably benign |
Het |
| Adcy8 |
G |
A |
15: 64,792,045 (GRCm39) |
L304F |
possibly damaging |
Het |
| Alb |
T |
C |
5: 90,617,362 (GRCm39) |
F354L |
probably damaging |
Het |
| Ampd3 |
T |
A |
7: 110,409,053 (GRCm39) |
S688R |
probably damaging |
Het |
| Aoc1l3 |
AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC |
AGGCCCAGCC |
6: 48,964,952 (GRCm39) |
|
probably benign |
Het |
| Areg |
T |
G |
5: 91,294,553 (GRCm39) |
L237R |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,640,484 (GRCm39) |
S1243G |
probably benign |
Het |
| B3glct |
A |
G |
5: 149,673,894 (GRCm39) |
|
probably null |
Het |
| Casp7 |
T |
A |
19: 56,424,767 (GRCm39) |
L162Q |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 109,976,635 (GRCm39) |
N100S |
probably benign |
Het |
| Cdh22 |
G |
T |
2: 164,954,490 (GRCm39) |
T677N |
probably damaging |
Het |
| Cmtm5 |
T |
A |
14: 55,174,205 (GRCm39) |
S31T |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,713,650 (GRCm39) |
R2295* |
probably null |
Het |
| Cpa6 |
T |
C |
1: 10,479,546 (GRCm39) |
N229S |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,253,564 (GRCm39) |
K1823R |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,739,199 (GRCm39) |
N4180D |
probably damaging |
Het |
| Dsg3 |
A |
C |
18: 20,658,278 (GRCm39) |
E296D |
probably damaging |
Het |
| Ednra |
A |
T |
8: 78,446,934 (GRCm39) |
L48Q |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,068,752 (GRCm39) |
D186G |
probably benign |
Het |
| Foxj2 |
A |
G |
6: 122,819,792 (GRCm39) |
D560G |
probably damaging |
Het |
| Frmd3 |
G |
A |
4: 74,038,055 (GRCm39) |
M105I |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,503,560 (GRCm39) |
|
probably null |
Het |
| Hrob |
T |
C |
11: 102,150,167 (GRCm39) |
S410P |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,583,537 (GRCm39) |
E227G |
possibly damaging |
Het |
| Lgalsl |
T |
A |
11: 20,779,439 (GRCm39) |
I69F |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,770,784 (GRCm39) |
T1588A |
|
Het |
| Myo9a |
A |
G |
9: 59,734,466 (GRCm39) |
S683G |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,309,887 (GRCm39) |
I459T |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,294,723 (GRCm39) |
|
probably null |
Het |
| Nfic |
T |
C |
10: 81,256,502 (GRCm39) |
E54G |
probably damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,897,397 (GRCm39) |
T920A |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,467,484 (GRCm39) |
C1430Y |
probably damaging |
Het |
| Or8k17 |
A |
G |
2: 86,066,838 (GRCm39) |
F107L |
probably damaging |
Het |
| Pcbp2 |
G |
A |
15: 102,406,941 (GRCm39) |
G357D |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,398,516 (GRCm39) |
S156G |
probably damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,606,890 (GRCm39) |
R41* |
probably null |
Het |
| Pde1b |
A |
T |
15: 103,435,489 (GRCm39) |
D448V |
probably benign |
Het |
| Pex7 |
G |
A |
10: 19,762,859 (GRCm39) |
R227* |
probably null |
Het |
| Pkp1 |
T |
A |
1: 135,817,820 (GRCm39) |
Y105F |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,589,244 (GRCm39) |
T529A |
possibly damaging |
Het |
| Plxnc1 |
C |
G |
10: 94,649,004 (GRCm39) |
Q1258H |
possibly damaging |
Het |
| Prr36 |
T |
A |
8: 4,263,291 (GRCm39) |
T792S |
unknown |
Het |
| Rasgrf1 |
A |
T |
9: 89,826,921 (GRCm39) |
T177S |
probably benign |
Het |
| Rbm14 |
A |
G |
19: 4,853,495 (GRCm39) |
S296P |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,724,674 (GRCm39) |
Y229C |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,575,412 (GRCm39) |
S600C |
probably damaging |
Het |
| Slc29a4 |
T |
A |
5: 142,704,233 (GRCm39) |
S296T |
probably benign |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
A |
G |
2: 162,774,009 (GRCm39) |
E68G |
probably benign |
Het |
| Syt13 |
A |
T |
2: 92,781,749 (GRCm39) |
N317Y |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,647,553 (GRCm39) |
L701Q |
probably damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,048,681 (GRCm39) |
V324E |
probably damaging |
Het |
| Tbc1d21 |
A |
G |
9: 58,273,924 (GRCm39) |
L84P |
probably damaging |
Het |
| Trappc6b |
A |
G |
12: 59,097,127 (GRCm39) |
M65T |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,403 (GRCm39) |
N362D |
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,463,233 (GRCm39) |
T475M |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,402,244 (GRCm39) |
K129R |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,812 (GRCm39) |
V197A |
probably damaging |
Het |
| Wfdc3 |
G |
A |
2: 164,584,997 (GRCm39) |
L4F |
possibly damaging |
Het |
| Zfp141 |
T |
A |
7: 42,125,770 (GRCm39) |
Q234L |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,275 (GRCm39) |
K311R |
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 |
|
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 |
|
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'- TCCTGTATCAGAAGCTGGGC -3'
(R):5'- GAGGACCTAGCTTGACTCTCTC -3'
Sequencing Primer
(F):5'- TATCAGAAGCTGGGCTGCCC -3'
(R):5'- AGCATGATCCCAGGACTCTGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation