Incidental Mutation 'R0541:Dagla'
ID |
49948 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dagla
|
Ensembl Gene |
ENSMUSG00000035735 |
Gene Name |
diacylglycerol lipase, alpha |
Synonyms |
Nsddr |
MMRRC Submission |
038733-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0541 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to A
at 10232170 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156361
|
Meta Mutation Damage Score |
0.9495 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
96% (64/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,740,872 (GRCm39) |
M115V |
probably benign |
Het |
4933415A04Rik |
TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,227 (GRCm39) |
|
probably null |
Het |
Abca7 |
C |
T |
10: 79,843,185 (GRCm39) |
A1220V |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,060,372 (GRCm39) |
|
probably null |
Het |
Agbl1 |
G |
A |
7: 76,058,993 (GRCm39) |
V194M |
probably benign |
Het |
Arhgap20 |
G |
T |
9: 51,760,963 (GRCm39) |
S902I |
probably damaging |
Het |
Atp11b |
T |
G |
3: 35,861,093 (GRCm39) |
D193E |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,535,430 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
T |
C |
16: 97,723,496 (GRCm39) |
E7G |
possibly damaging |
Het |
Camta2 |
A |
G |
11: 70,572,447 (GRCm39) |
L259P |
probably benign |
Het |
Ccni |
T |
C |
5: 93,335,563 (GRCm39) |
N192D |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,558,535 (GRCm39) |
I946T |
possibly damaging |
Het |
Chil3 |
T |
C |
3: 106,068,548 (GRCm39) |
|
probably null |
Het |
Cntn5 |
A |
G |
9: 9,673,407 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
C |
T |
16: 30,078,169 (GRCm39) |
G511S |
possibly damaging |
Het |
Dcc |
T |
C |
18: 71,392,086 (GRCm39) |
N1440S |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,907,474 (GRCm39) |
N1069K |
probably benign |
Het |
Edc4 |
A |
G |
8: 106,616,060 (GRCm39) |
T812A |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,747,471 (GRCm39) |
I238V |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,852,882 (GRCm39) |
T1288A |
unknown |
Het |
Fastkd1 |
A |
C |
2: 69,532,750 (GRCm39) |
L539R |
probably damaging |
Het |
Fbln7 |
G |
A |
2: 128,719,454 (GRCm39) |
|
probably benign |
Het |
Fbxo39 |
A |
G |
11: 72,209,297 (GRCm39) |
I386V |
probably benign |
Het |
Gm17430 |
T |
C |
18: 9,726,267 (GRCm39) |
K135R |
probably damaging |
Het |
Gm3646 |
T |
A |
1: 39,843,483 (GRCm39) |
T8S |
unknown |
Het |
Gtsf1 |
A |
T |
15: 103,329,619 (GRCm39) |
V100E |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,876,618 (GRCm39) |
F1292S |
possibly damaging |
Het |
Igf2bp3 |
G |
A |
6: 49,084,401 (GRCm39) |
|
probably benign |
Het |
Ip6k2 |
T |
G |
9: 108,681,826 (GRCm39) |
D252E |
probably damaging |
Het |
Iqck |
T |
A |
7: 118,514,817 (GRCm39) |
L232Q |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,806,001 (GRCm39) |
V186A |
probably damaging |
Het |
Klhl6 |
T |
A |
16: 19,768,197 (GRCm39) |
|
probably null |
Het |
Lao1 |
C |
T |
4: 118,820,999 (GRCm39) |
T75I |
probably benign |
Het |
Lyst |
T |
C |
13: 13,855,878 (GRCm39) |
F2400L |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,780,997 (GRCm39) |
S388T |
possibly damaging |
Het |
Mmp11 |
G |
T |
10: 75,762,767 (GRCm39) |
H229N |
probably damaging |
Het |
Myh7 |
T |
G |
14: 55,212,158 (GRCm39) |
I1529L |
probably benign |
Het |
Nckap5 |
G |
T |
1: 126,623,459 (GRCm39) |
D11E |
possibly damaging |
Het |
Ncoa1 |
A |
T |
12: 4,373,033 (GRCm39) |
F123I |
probably damaging |
Het |
Nelfb |
A |
T |
2: 25,093,992 (GRCm39) |
D385E |
probably benign |
Het |
Obscn |
C |
T |
11: 58,972,810 (GRCm39) |
V2288M |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,154 (GRCm39) |
H56R |
probably damaging |
Het |
Or4d6 |
C |
T |
19: 12,086,884 (GRCm39) |
V9M |
possibly damaging |
Het |
Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
Otog |
T |
A |
7: 45,918,673 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
A |
G |
14: 54,605,646 (GRCm39) |
E375G |
possibly damaging |
Het |
Pan2 |
T |
A |
10: 128,144,091 (GRCm39) |
I129K |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,426,616 (GRCm39) |
I919M |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,885,305 (GRCm39) |
Y174H |
probably damaging |
Het |
Polr3b |
T |
C |
10: 84,473,928 (GRCm39) |
F169S |
probably damaging |
Het |
Rab10 |
T |
C |
12: 3,314,743 (GRCm39) |
D45G |
probably damaging |
Het |
Reln |
A |
G |
5: 22,185,107 (GRCm39) |
S1537P |
possibly damaging |
Het |
Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,733,229 (GRCm39) |
I589F |
probably damaging |
Het |
Stmn4 |
A |
C |
14: 66,595,388 (GRCm39) |
I165L |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,727,301 (GRCm39) |
M177T |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,491,486 (GRCm39) |
|
probably null |
Het |
Tmem192 |
T |
C |
8: 65,416,912 (GRCm39) |
Y168H |
probably damaging |
Het |
Ttc21a |
C |
T |
9: 119,785,892 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,446,663 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
G |
11: 87,972,403 (GRCm39) |
M255V |
possibly damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,816,786 (GRCm39) |
F265S |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,681,941 (GRCm39) |
S1021P |
probably benign |
Het |
Wfdc16 |
T |
C |
2: 164,477,773 (GRCm39) |
E92G |
possibly damaging |
Het |
Zkscan2 |
T |
C |
7: 123,079,423 (GRCm39) |
T845A |
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 |
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 |
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'- AGTGCTGTCCTATGCCATTCCCAG -3'
(R):5'- GAAAACAGTCTCACCAAGCCTTTGC -3'
Sequencing Primer
(F):5'- GGCATCCTGTATCAGAAGCTG -3'
(R):5'- CTCTGTGAGGACCTAGCTTGAC -3'
|
Posted On |
2013-06-12 |