Incidental Mutation 'R8442:Dagla'
| ID |
654268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dagla
|
| Ensembl Gene |
ENSMUSG00000035735 |
| Gene Name |
diacylglycerol lipase, alpha |
| Synonyms |
Nsddr |
| MMRRC Submission |
067779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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 G
at 10240456 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: 98.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apof |
T |
C |
10: 128,104,891 (GRCm39) |
L15P |
probably damaging |
Het |
| BC048671 |
T |
C |
6: 90,282,095 (GRCm39) |
F84S |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| C2cd4a |
C |
T |
9: 67,739,039 (GRCm39) |
M1I |
probably null |
Het |
| Cd72 |
T |
A |
4: 43,450,109 (GRCm39) |
K266N |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,542,781 (GRCm39) |
F2328S |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,318,855 (GRCm39) |
Y2948C |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,568,849 (GRCm39) |
T2860A |
probably damaging |
Het |
| Efcab2 |
A |
T |
1: 178,265,001 (GRCm39) |
K22N |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,512,983 (GRCm39) |
R1118Q |
probably damaging |
Het |
| Foxl1 |
T |
A |
8: 121,855,224 (GRCm39) |
L175Q |
possibly damaging |
Het |
| Gm572 |
G |
T |
4: 148,743,450 (GRCm39) |
R140L |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,205,833 (GRCm39) |
R676G |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hspb8 |
T |
C |
5: 116,560,504 (GRCm39) |
Y12C |
probably damaging |
Het |
| Igf2bp2 |
A |
C |
16: 21,883,841 (GRCm39) |
|
probably null |
Het |
| Igkv9-129 |
T |
A |
6: 67,816,784 (GRCm39) |
M3K |
probably damaging |
Het |
| Il5 |
C |
T |
11: 53,612,651 (GRCm39) |
P54S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,125,318 (GRCm39) |
I245T |
possibly damaging |
Het |
| Kif2b |
T |
A |
11: 91,467,140 (GRCm39) |
N381I |
possibly damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,500,908 (GRCm39) |
F679S |
probably benign |
Het |
| Med24 |
A |
G |
11: 98,598,383 (GRCm39) |
F742L |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,349,020 (GRCm39) |
T1071A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,220 (GRCm39) |
T1374A |
probably damaging |
Het |
| Or4d6 |
A |
T |
19: 12,086,091 (GRCm39) |
I47N |
probably damaging |
Het |
| Or5p75-ps1 |
A |
C |
7: 108,107,851 (GRCm39) |
Q196P |
unknown |
Het |
| P3h2 |
A |
G |
16: 25,805,955 (GRCm39) |
I296T |
probably benign |
Het |
| Pcdhb21 |
A |
T |
18: 37,646,841 (GRCm39) |
|
probably benign |
Het |
| Prkab2 |
G |
T |
3: 97,566,002 (GRCm39) |
G25C |
probably damaging |
Het |
| Ptprm |
C |
A |
17: 67,251,312 (GRCm39) |
A522S |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,624,231 (GRCm39) |
D512G |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,592,608 (GRCm39) |
T346A |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,163,938 (GRCm39) |
S2P |
unknown |
Het |
| Sfrp5 |
A |
G |
19: 42,187,236 (GRCm39) |
V278A |
probably benign |
Het |
| Taar1 |
T |
A |
10: 23,796,522 (GRCm39) |
C73* |
probably null |
Het |
| Tek |
T |
A |
4: 94,715,922 (GRCm39) |
L448Q |
probably benign |
Het |
| Tmem132a |
A |
C |
19: 10,835,833 (GRCm39) |
L899R |
probably damaging |
Het |
| Txndc5 |
T |
C |
13: 38,711,845 (GRCm39) |
|
probably benign |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,212,568 (GRCm39) |
S925P |
probably damaging |
Het |
| Unc13d |
A |
T |
11: 115,958,657 (GRCm39) |
D786E |
probably damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,728 (GRCm39) |
T154A |
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 |
|
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'- TGAACGGGACATCCTCAGAG -3'
(R):5'- CAGAATTGTAGCGATTTCCGG -3'
Sequencing Primer
(F):5'- ACATCCTCAGAGGCTGGC -3'
(R):5'- GCCCTTGGTGTTCACTCATGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation