Incidental Mutation 'IGL03182:Mgll'
| ID |
412307 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgll
|
| Ensembl Gene |
ENSMUSG00000033174 |
| Gene Name |
monoglyceride lipase |
| Synonyms |
Magl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL03182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88701397-88805342 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88800173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 191
(V191F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089449]
[ENSMUST00000113581]
[ENSMUST00000113582]
[ENSMUST00000113585]
[ENSMUST00000163271]
[ENSMUST00000203608]
[ENSMUST00000203824]
|
| AlphaFold |
O35678 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089449
AA Change: V191F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086872
Gene: ENSMUSG00000033174
AA Change: V191F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
27 |
105 |
6e-29 |
PFAM |
|
Pfam:Abhydrolase_5
|
43 |
270 |
1e-21 |
PFAM |
|
Pfam:Abhydrolase_6
|
44 |
282 |
4.4e-26 |
PFAM |
|
Pfam:DUF2305
|
55 |
186 |
1.7e-7 |
PFAM |
|
Pfam:Lipase_3
|
56 |
163 |
1.6e-9 |
PFAM |
|
Pfam:Abhydrolase_1
|
71 |
284 |
4.2e-14 |
PFAM |
|
Pfam:Esterase
|
82 |
195 |
8.6e-8 |
PFAM |
|
Pfam:Abhydrolase_3
|
88 |
273 |
8.8e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113581
AA Change: V219F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109211
Gene: ENSMUSG00000033174
AA Change: V219F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
39 |
304 |
6.8e-70 |
PFAM |
|
Pfam:Abhydrolase_5
|
43 |
298 |
1.1e-20 |
PFAM |
|
Pfam:Abhydrolase_1
|
44 |
186 |
8.1e-13 |
PFAM |
|
Pfam:Abhydrolase_6
|
44 |
310 |
4.4e-15 |
PFAM |
|
Pfam:DUF2305
|
55 |
224 |
2.2e-8 |
PFAM |
|
Pfam:Lipase_3
|
58 |
146 |
1.4e-8 |
PFAM |
|
Pfam:Esterase
|
82 |
195 |
1.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113582
|
| SMART Domains |
Protein: ENSMUSP00000109212
Gene: ENSMUSG00000033174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
27 |
105 |
4.4e-29 |
PFAM |
|
Pfam:Abhydrolase_5
|
43 |
225 |
3.2e-18 |
PFAM |
|
Pfam:Abhydrolase_6
|
44 |
184 |
1.3e-18 |
PFAM |
|
Pfam:Lipase_3
|
55 |
163 |
1.2e-9 |
PFAM |
|
Pfam:DUF2305
|
55 |
249 |
4.9e-8 |
PFAM |
|
Pfam:Abhydrolase_1
|
71 |
220 |
1.1e-13 |
PFAM |
|
Pfam:Esterase
|
81 |
222 |
4.8e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113585
AA Change: V191F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109215
Gene: ENSMUSG00000033174
AA Change: V191F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
27 |
105 |
6e-29 |
PFAM |
|
Pfam:Abhydrolase_5
|
43 |
270 |
1e-21 |
PFAM |
|
Pfam:Abhydrolase_6
|
44 |
282 |
4.4e-26 |
PFAM |
|
Pfam:DUF2305
|
55 |
186 |
1.7e-7 |
PFAM |
|
Pfam:Lipase_3
|
56 |
163 |
1.6e-9 |
PFAM |
|
Pfam:Abhydrolase_1
|
71 |
284 |
4.2e-14 |
PFAM |
|
Pfam:Esterase
|
82 |
195 |
8.6e-8 |
PFAM |
|
Pfam:Abhydrolase_3
|
88 |
273 |
8.8e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163271
AA Change: V207F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127374
Gene: ENSMUSG00000033174
AA Change: V207F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
43 |
121 |
3e-28 |
PFAM |
|
Pfam:Abhydrolase_5
|
59 |
286 |
3.9e-21 |
PFAM |
|
Pfam:Abhydrolase_6
|
60 |
298 |
1.1e-25 |
PFAM |
|
Pfam:DUF2305
|
71 |
202 |
1.3e-7 |
PFAM |
|
Pfam:Lipase_3
|
72 |
179 |
2.6e-9 |
PFAM |
|
Pfam:Abhydrolase_1
|
87 |
300 |
1.1e-13 |
PFAM |
|
Pfam:Esterase
|
98 |
211 |
2e-7 |
PFAM |
|
Pfam:Abhydrolase_3
|
104 |
289 |
8.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205045
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a monoglyceride lipase, which catalyzes the hydrolysis of monoglycerides into fatty acids and glycerol. This enzyme is also thought to hydrolyze the endocannabinoid 2-arachidonoylglycerol. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit hypoalgesia, increased body temperature, and decreased fatty acid levels. Mice homozygous for a targeted allele exhibit impaired lipolysis and improved glucose homeostasis on a high-fat diet. [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 |
|---|
| Agbl3 |
A |
T |
6: 34,780,435 (GRCm39) |
K469N |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,718,787 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,619,580 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,827 (GRCm39) |
T209I |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,205,046 (GRCm39) |
V754I |
probably benign |
Het |
| Arfgef3 |
C |
T |
10: 18,476,292 (GRCm39) |
R1509H |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,101,832 (GRCm39) |
S30P |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,411,866 (GRCm39) |
E369D |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,121,798 (GRCm39) |
Y236C |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,138,353 (GRCm39) |
L717F |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,994,026 (GRCm39) |
I2340N |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,868 (GRCm39) |
E889G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,703,552 (GRCm39) |
Y1560C |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,699,225 (GRCm39) |
M623K |
possibly damaging |
Het |
| Gm21970 |
T |
A |
16: 91,190,726 (GRCm39) |
S110T |
possibly damaging |
Het |
| Gm826 |
T |
A |
2: 160,169,035 (GRCm39) |
R91S |
unknown |
Het |
| Lrrn3 |
A |
G |
12: 41,504,020 (GRCm39) |
L99S |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,046,773 (GRCm39) |
M1552K |
possibly damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,523,698 (GRCm39) |
N50S |
possibly damaging |
Het |
| Nol8 |
C |
A |
13: 49,817,557 (GRCm39) |
H778N |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,268 (GRCm39) |
T99S |
probably benign |
Het |
| Or5b116 |
A |
C |
19: 13,422,807 (GRCm39) |
T144P |
possibly damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,277 (GRCm39) |
M211K |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,366 (GRCm39) |
S239T |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,506,474 (GRCm39) |
I13N |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,710,740 (GRCm39) |
D114E |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,792,792 (GRCm39) |
L1493P |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,502,259 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,610,015 (GRCm39) |
Y872* |
probably null |
Het |
| Rictor |
A |
G |
15: 6,819,079 (GRCm39) |
D1434G |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,615,971 (GRCm39) |
G162R |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,596,162 (GRCm39) |
D424G |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,377,395 (GRCm39) |
I475V |
possibly damaging |
Het |
| Snx31 |
G |
T |
15: 36,525,833 (GRCm39) |
Q289K |
probably benign |
Het |
| Tbc1d13 |
G |
A |
2: 30,037,379 (GRCm39) |
A254T |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,740,002 (GRCm39) |
I750T |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,177,159 (GRCm39) |
L1296* |
probably null |
Het |
| Tmem145 |
T |
A |
7: 25,014,304 (GRCm39) |
F459I |
probably damaging |
Het |
| Uba5 |
A |
T |
9: 103,931,328 (GRCm39) |
V247D |
possibly damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,617 (GRCm39) |
M147V |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,187,138 (GRCm39) |
D783G |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,608,287 (GRCm39) |
S1198P |
probably benign |
Het |
|
| Other mutations in Mgll |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4677001:Mgll
|
UTSW |
6 |
88,802,663 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0624:Mgll
|
UTSW |
6 |
88,702,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1550:Mgll
|
UTSW |
6 |
88,790,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1779:Mgll
|
UTSW |
6 |
88,790,930 (GRCm39) |
nonsense |
probably null |
|
|
R2230:Mgll
|
UTSW |
6 |
88,802,714 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3712:Mgll
|
UTSW |
6 |
88,741,570 (GRCm39) |
intron |
probably benign |
|
|
R4751:Mgll
|
UTSW |
6 |
88,702,093 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5030:Mgll
|
UTSW |
6 |
88,795,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5216:Mgll
|
UTSW |
6 |
88,743,311 (GRCm39) |
nonsense |
probably null |
|
|
R5523:Mgll
|
UTSW |
6 |
88,702,743 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6545:Mgll
|
UTSW |
6 |
88,802,685 (GRCm39) |
missense |
probably benign |
|
|
R7251:Mgll
|
UTSW |
6 |
88,800,357 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7307:Mgll
|
UTSW |
6 |
88,791,103 (GRCm39) |
splice site |
probably null |
|
|
R7745:Mgll
|
UTSW |
6 |
88,702,770 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8269:Mgll
|
UTSW |
6 |
88,790,930 (GRCm39) |
nonsense |
probably null |
|
|
R8892:Mgll
|
UTSW |
6 |
88,743,306 (GRCm39) |
missense |
unknown |
|
|
R9063:Mgll
|
UTSW |
6 |
88,802,690 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2016-08-02 |
Incidental Mutation