Incidental Mutation 'IGL01940:Dagla'
| ID |
180853 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dagla
|
| Ensembl Gene |
ENSMUSG00000035735 |
| Gene Name |
diacylglycerol lipase, alpha |
| Synonyms |
Nsddr |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10222629-10282241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10229535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 575
(V575A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039327]
[ENSMUST00000125567]
|
| AlphaFold |
Q6WQJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039327
AA Change: V575A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: V575A
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,517,661 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,983,921 (GRCm39) |
D1735V |
probably benign |
Het |
| Alkbh3 |
G |
A |
2: 93,811,940 (GRCm39) |
T231I |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,885,431 (GRCm39) |
V344A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,792 (GRCm39) |
D907V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,452,737 (GRCm39) |
M582K |
probably benign |
Het |
| Csf2 |
G |
T |
11: 54,140,351 (GRCm39) |
P29H |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,758 (GRCm39) |
R196H |
probably benign |
Het |
| Dimt1 |
T |
A |
13: 107,085,206 (GRCm39) |
|
probably benign |
Het |
| Ei24 |
A |
T |
9: 36,693,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Fam107a |
T |
C |
14: 8,298,766 (GRCm38) |
H120R |
probably benign |
Het |
| Fancl |
G |
T |
11: 26,409,752 (GRCm39) |
V203F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,925,512 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,012 (GRCm39) |
Y450C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,864,332 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,683 (GRCm39) |
S253G |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,453,805 (GRCm39) |
N469I |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,257 (GRCm39) |
Y294C |
probably damaging |
Het |
| Odam |
C |
A |
5: 88,035,192 (GRCm39) |
S52Y |
possibly damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,177 (GRCm39) |
T240I |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,154 (GRCm39) |
N200I |
probably damaging |
Het |
| Or51i2 |
A |
G |
7: 103,689,129 (GRCm39) |
N42S |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,720 (GRCm39) |
R2676L |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,529 (GRCm39) |
D1915G |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,519,764 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ptk2b |
A |
G |
14: 66,396,062 (GRCm39) |
I802T |
probably benign |
Het |
| Rabgap1 |
G |
T |
2: 37,377,079 (GRCm39) |
A304S |
probably damaging |
Het |
| Sema3f |
T |
C |
9: 107,560,896 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
A |
T |
1: 106,973,915 (GRCm39) |
V332E |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,165,793 (GRCm39) |
M370K |
probably benign |
Het |
| Slc25a1 |
T |
A |
16: 17,744,304 (GRCm39) |
Y209F |
probably benign |
Het |
| Smim15 |
A |
G |
13: 108,184,164 (GRCm39) |
K57E |
probably damaging |
Het |
| Taar3 |
T |
A |
10: 23,825,855 (GRCm39) |
C134S |
probably damaging |
Het |
| Tns4 |
C |
T |
11: 98,959,047 (GRCm39) |
S684N |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,487,071 (GRCm39) |
V608A |
probably benign |
Het |
| Zbtb26 |
A |
T |
2: 37,325,987 (GRCm39) |
C350S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation