Incidental Mutation 'R5958:Dagla'
| ID |
471319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dagla
|
| Ensembl Gene |
ENSMUSG00000035735 |
| Gene Name |
diacylglycerol lipase, alpha |
| Synonyms |
Nsddr |
| MMRRC Submission |
044145-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5958 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10225788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 792
(Y792C)
|
| 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: Y792C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: Y792C
| 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 |
0.4321 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| Validation Efficiency |
95% (75/79) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,030,367 (GRCm39) |
D616G |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,069,280 (GRCm39) |
N243S |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,425,822 (GRCm39) |
I417V |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,016,556 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
G |
1: 179,574,107 (GRCm39) |
|
probably benign |
Het |
| Ap1s3 |
G |
T |
1: 79,591,960 (GRCm39) |
T130K |
probably benign |
Het |
| Apold1 |
C |
T |
6: 134,960,686 (GRCm39) |
R47C |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,157,860 (GRCm39) |
K197E |
probably damaging |
Het |
| Camk2d |
T |
G |
3: 126,573,514 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
G |
4: 43,983,854 (GRCm39) |
D87G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,554,383 (GRCm39) |
T889A |
possibly damaging |
Het |
| Cel |
T |
A |
2: 28,450,957 (GRCm39) |
Y102F |
probably damaging |
Het |
| Cma1 |
A |
C |
14: 56,179,113 (GRCm39) |
*248E |
probably null |
Het |
| Cnbd1 |
T |
C |
4: 18,862,056 (GRCm39) |
N378S |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,932,231 (GRCm39) |
Y533F |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,520,827 (GRCm39) |
I414T |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,651,211 (GRCm39) |
E107D |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,172,415 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,225,131 (GRCm39) |
K1682R |
probably damaging |
Het |
| Epyc |
A |
T |
10: 97,485,704 (GRCm39) |
H48L |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,744 (GRCm39) |
S817P |
|
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,442,429 (GRCm39) |
V693A |
probably benign |
Het |
| Fuom |
A |
T |
7: 139,679,811 (GRCm39) |
F122I |
probably damaging |
Het |
| Glg1 |
G |
T |
8: 111,985,736 (GRCm39) |
H31Q |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,065 (GRCm39) |
|
probably benign |
Het |
| Hdac9 |
G |
T |
12: 34,423,882 (GRCm39) |
Q595K |
probably damaging |
Het |
| Homez |
C |
T |
14: 55,094,298 (GRCm39) |
R119Q |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,142 (GRCm39) |
H106R |
probably benign |
Het |
| Ift57 |
C |
T |
16: 49,531,471 (GRCm39) |
|
probably benign |
Het |
| Itk |
A |
T |
11: 46,235,682 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,412,807 (GRCm39) |
K358E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,986,028 (GRCm39) |
V378D |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,698,592 (GRCm39) |
I407T |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,979 (GRCm39) |
T476S |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,915,955 (GRCm39) |
V276I |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,411 (GRCm39) |
F103S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,782,016 (GRCm39) |
L1972P |
probably damaging |
Het |
| Pcsk6 |
A |
G |
7: 65,693,359 (GRCm39) |
E3G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,961,799 (GRCm39) |
L1010S |
probably damaging |
Het |
| Pitpnm3 |
G |
T |
11: 72,003,193 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
A |
G |
2: 32,102,092 (GRCm39) |
M722V |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,673,603 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,049,576 (GRCm39) |
S1036P |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,126,932 (GRCm39) |
A46T |
possibly damaging |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spag6l |
C |
A |
16: 16,580,885 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
C |
2: 121,207,403 (GRCm39) |
H656R |
possibly damaging |
Het |
| Tanc2 |
A |
G |
11: 105,731,451 (GRCm39) |
D409G |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,696 (GRCm39) |
H235R |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,261 (GRCm39) |
Y1252F |
probably benign |
Het |
| Tlr11 |
T |
G |
14: 50,598,234 (GRCm39) |
N73K |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,523 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
T |
4: 139,182,949 (GRCm39) |
N445I |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,143,510 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,756,398 (GRCm39) |
F702L |
probably benign |
Het |
| Utp14b |
A |
T |
1: 78,642,659 (GRCm39) |
K186* |
probably null |
Het |
| Utp14b |
A |
T |
1: 78,642,660 (GRCm39) |
K186M |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,510,153 (GRCm39) |
M512K |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,686 (GRCm39) |
M20L |
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 |
|
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 |
|
|
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'- TGAGTGCTTGGACAGACTG -3'
(R):5'- TCATGCTTGTTCCCTGTAGG -3'
Sequencing Primer
(F):5'- ACAGACTGTCGGCTGCCAG -3'
(R):5'- CTGTAGGAGCAAGTCTCAGTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation