Incidental Mutation 'R0653:Dagla'
ID |
62414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dagla
|
Ensembl Gene |
ENSMUSG00000035735 |
Gene Name |
diacylglycerol lipase, alpha |
Synonyms |
Nsddr |
MMRRC Submission |
038838-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0653 (G1)
|
Quality Score |
96 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10225789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 792
(Y792H)
|
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: Y792H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046358 Gene: ENSMUSG00000035735 AA Change: Y792H
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
A |
11: 72,066,371 (GRCm39) |
R612* |
probably null |
Het |
Adgra1 |
A |
G |
7: 139,456,063 (GRCm39) |
T564A |
probably damaging |
Het |
Akr1c18 |
A |
T |
13: 4,195,307 (GRCm39) |
D50E |
probably damaging |
Het |
Atg9a |
C |
A |
1: 75,166,972 (GRCm39) |
L26F |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,893,343 (GRCm39) |
T899A |
probably damaging |
Het |
Atxn2 |
A |
G |
5: 121,910,841 (GRCm39) |
E358G |
probably damaging |
Het |
Bmp3 |
A |
G |
5: 99,019,970 (GRCm39) |
Y131C |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,043,484 (GRCm39) |
E360G |
possibly damaging |
Het |
Casd1 |
A |
T |
6: 4,608,075 (GRCm39) |
I76L |
probably benign |
Het |
Casq2 |
G |
A |
3: 102,020,482 (GRCm39) |
|
probably null |
Het |
Ccdc185 |
T |
A |
1: 182,575,129 (GRCm39) |
Q520L |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,392,183 (GRCm39) |
K550E |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,262,418 (GRCm39) |
S521P |
probably damaging |
Het |
Clstn2 |
A |
T |
9: 97,340,257 (GRCm39) |
V705E |
probably damaging |
Het |
Dgke |
A |
T |
11: 88,950,995 (GRCm39) |
C73S |
probably benign |
Het |
Egflam |
A |
G |
15: 7,279,509 (GRCm39) |
|
probably null |
Het |
Farp1 |
T |
C |
14: 121,471,258 (GRCm39) |
|
probably null |
Het |
Fos |
A |
G |
12: 85,522,790 (GRCm39) |
E234G |
probably benign |
Het |
Gtf3c5 |
A |
T |
2: 28,468,008 (GRCm39) |
M151K |
probably benign |
Het |
Hgs |
G |
A |
11: 120,359,904 (GRCm39) |
R36H |
probably damaging |
Het |
Lats2 |
G |
A |
14: 57,937,653 (GRCm39) |
Q279* |
probably null |
Het |
Lysmd4 |
T |
A |
7: 66,875,788 (GRCm39) |
D150E |
probably benign |
Het |
Mex3b |
A |
G |
7: 82,518,242 (GRCm39) |
K186E |
probably damaging |
Het |
Myo9a |
A |
C |
9: 59,832,274 (GRCm39) |
Q2601P |
probably damaging |
Het |
Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
Nr5a2 |
A |
G |
1: 136,876,543 (GRCm39) |
V40A |
probably benign |
Het |
Obscn |
C |
A |
11: 58,898,534 (GRCm39) |
|
probably benign |
Het |
Or2y1d |
C |
A |
11: 49,322,078 (GRCm39) |
Y258* |
probably null |
Het |
Or4c114 |
A |
G |
2: 88,904,808 (GRCm39) |
I209T |
possibly damaging |
Het |
Or8g4 |
A |
G |
9: 39,661,934 (GRCm39) |
N84S |
probably benign |
Het |
Pclo |
T |
A |
5: 14,732,269 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,118,228 (GRCm39) |
I2939V |
probably benign |
Het |
Rtn4 |
A |
T |
11: 29,657,256 (GRCm39) |
K470I |
probably damaging |
Het |
Sbno1 |
A |
G |
5: 124,524,955 (GRCm39) |
I1050T |
possibly damaging |
Het |
Scaf11 |
G |
T |
15: 96,316,522 (GRCm39) |
S17* |
probably null |
Het |
Scn9a |
A |
T |
2: 66,363,721 (GRCm39) |
N841K |
probably damaging |
Het |
Slc35e3 |
C |
A |
10: 117,576,711 (GRCm39) |
E207* |
probably null |
Het |
Slc6a20b |
A |
G |
9: 123,426,377 (GRCm39) |
F503L |
probably damaging |
Het |
Spag16 |
G |
T |
1: 69,909,504 (GRCm39) |
K200N |
probably damaging |
Het |
Supt6 |
G |
T |
11: 78,116,841 (GRCm39) |
Q604K |
probably benign |
Het |
Taok1 |
A |
G |
11: 77,469,550 (GRCm39) |
|
probably null |
Het |
Tjp1 |
A |
T |
7: 64,964,503 (GRCm39) |
H889Q |
probably damaging |
Het |
Tmed6 |
A |
T |
8: 107,792,283 (GRCm39) |
|
probably null |
Het |
Tsen54 |
A |
T |
11: 115,705,887 (GRCm39) |
E68V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,559,878 (GRCm39) |
S21181P |
probably damaging |
Het |
Ube3d |
A |
T |
9: 86,334,043 (GRCm39) |
M33K |
possibly damaging |
Het |
Umodl1 |
C |
A |
17: 31,203,002 (GRCm39) |
Q452K |
probably benign |
Het |
Wif1 |
G |
T |
10: 120,935,704 (GRCm39) |
A354S |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,210,492 (GRCm39) |
F1788L |
possibly damaging |
Het |
Zfhx3 |
A |
T |
8: 109,673,440 (GRCm39) |
I1497F |
possibly damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp30 |
G |
A |
7: 29,492,178 (GRCm39) |
R225Q |
probably damaging |
Het |
Zfp87 |
T |
C |
13: 74,520,190 (GRCm39) |
E296G |
probably damaging |
Het |
Zfp874b |
A |
G |
13: 67,623,052 (GRCm39) |
F86S |
possibly damaging |
Het |
Zfyve19 |
A |
G |
2: 119,041,696 (GRCm39) |
S88G |
probably benign |
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 |
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'- TCAATGAACTCGGCGAATTCTAGCAC -3'
(R):5'- TTCCTTCTAGCCAGGGAAGTAGGGAC -3'
Sequencing Primer
(F):5'- GGCGAATTCTAGCACCTGAG -3'
(R):5'- CTGTAGGAGCAAGTCTCAGTC -3'
|
Posted On |
2013-07-30 |