Incidental Mutation 'PIT4677001:Mgll'
ID |
556552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mgll
|
Ensembl Gene |
ENSMUSG00000033174 |
Gene Name |
monoglyceride lipase |
Synonyms |
Magl |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
PIT4677001 (G1)
|
Quality Score |
147.008 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
88701397-88805342 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88802663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 273
(R273W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089449]
[ENSMUST00000113581]
[ENSMUST00000113582]
[ENSMUST00000113585]
[ENSMUST00000163271]
[ENSMUST00000203608]
[ENSMUST00000203824]
|
AlphaFold |
O35678 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089449
AA Change: R273W
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000086872 Gene: ENSMUSG00000033174 AA Change: R273W
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: R301W
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109211 Gene: ENSMUSG00000033174 AA Change: R301W
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 |
possibly damaging
Transcript: ENSMUST00000113582
AA Change: R228W
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109212 Gene: ENSMUSG00000033174 AA Change: R228W
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 |
possibly damaging
Transcript: ENSMUST00000113585
AA Change: R273W
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109215 Gene: ENSMUSG00000033174 AA Change: R273W
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 |
possibly damaging
Transcript: ENSMUST00000163271
AA Change: R289W
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127374 Gene: ENSMUSG00000033174 AA Change: R289W
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
|
Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 71.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
A |
2: 127,028,933 (GRCm39) |
T89S |
probably benign |
Het |
4921517D22Rik |
A |
T |
13: 59,838,305 (GRCm39) |
F176I |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,374,340 (GRCm39) |
D264G |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,286,896 (GRCm39) |
F834I |
probably benign |
Het |
Arhgap45 |
A |
T |
10: 79,856,583 (GRCm39) |
M171L |
probably benign |
Het |
Arid5b |
A |
T |
10: 67,933,841 (GRCm39) |
M687K |
probably damaging |
Het |
AU040320 |
A |
T |
4: 126,686,030 (GRCm39) |
Q202L |
probably benign |
Het |
Ccdc47 |
A |
G |
11: 106,099,034 (GRCm39) |
L219P |
probably damaging |
Het |
Cfhr2 |
T |
G |
1: 139,733,117 (GRCm39) |
S301R |
unknown |
Het |
Cog2 |
T |
A |
8: 125,272,010 (GRCm39) |
V508E |
probably benign |
Het |
Cpb2 |
A |
G |
14: 75,493,463 (GRCm39) |
T47A |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,425,288 (GRCm39) |
K692I |
possibly damaging |
Het |
Defb34 |
A |
T |
8: 19,176,412 (GRCm39) |
R34S |
possibly damaging |
Het |
Fads2 |
A |
T |
19: 10,047,694 (GRCm39) |
I275N |
probably damaging |
Het |
Fmn2 |
T |
G |
1: 174,474,699 (GRCm39) |
S1221A |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,812,035 (GRCm39) |
V302E |
probably benign |
Het |
Galntl6 |
C |
T |
8: 58,310,621 (GRCm39) |
C360Y |
probably damaging |
Het |
Gm16519 |
A |
T |
17: 71,236,506 (GRCm39) |
I152F |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,056,750 (GRCm39) |
V250D |
probably damaging |
Het |
Hs3st6 |
A |
G |
17: 24,977,285 (GRCm39) |
D255G |
possibly damaging |
Het |
Ift70a1 |
A |
G |
2: 75,810,113 (GRCm39) |
Y657H |
possibly damaging |
Het |
Ino80 |
C |
T |
2: 119,208,026 (GRCm39) |
V1422M |
probably benign |
Het |
Insyn2b |
A |
T |
11: 34,353,122 (GRCm39) |
N388I |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,396,021 (GRCm39) |
I669V |
probably benign |
Het |
Layn |
A |
T |
9: 50,968,711 (GRCm39) |
V344E |
probably damaging |
Het |
Myh2 |
G |
A |
11: 67,072,818 (GRCm39) |
S636N |
probably benign |
Het |
Nmur2 |
A |
T |
11: 55,923,835 (GRCm39) |
S240T |
probably benign |
Het |
Pkd1 |
T |
G |
17: 24,793,003 (GRCm39) |
S1563R |
possibly damaging |
Het |
Ppp4r3b |
G |
A |
11: 29,137,978 (GRCm39) |
V109I |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,861,648 (GRCm39) |
D547E |
probably damaging |
Het |
Prss46 |
A |
T |
9: 110,685,098 (GRCm39) |
M241L |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,070,809 (GRCm39) |
I1397F |
probably damaging |
Het |
Pus10 |
A |
T |
11: 23,670,171 (GRCm39) |
T418S |
possibly damaging |
Het |
Qsox2 |
T |
C |
2: 26,112,320 (GRCm39) |
D74G |
probably damaging |
Het |
Sctr |
T |
C |
1: 119,989,634 (GRCm39) |
V383A |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,914,677 (GRCm39) |
N1480Y |
probably damaging |
Het |
Skint2 |
T |
C |
4: 112,483,135 (GRCm39) |
I180T |
probably benign |
Het |
Snd1 |
A |
G |
6: 28,880,295 (GRCm39) |
I690V |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,624,435 (GRCm39) |
T575A |
probably damaging |
Het |
Srbd1 |
G |
A |
17: 86,422,640 (GRCm39) |
R459* |
probably null |
Het |
Tll2 |
C |
A |
19: 41,118,997 (GRCm39) |
V244L |
probably benign |
Het |
Tmem60 |
A |
G |
5: 21,091,366 (GRCm39) |
I44V |
probably benign |
Het |
Utrn |
T |
A |
10: 12,542,448 (GRCm39) |
I1846F |
probably benign |
Het |
Vinac1 |
T |
C |
2: 128,880,636 (GRCm39) |
D430G |
|
Het |
Vps8 |
T |
C |
16: 21,319,084 (GRCm39) |
F641S |
possibly damaging |
Het |
|
Other mutations in Mgll |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03182:Mgll
|
APN |
6 |
88,800,173 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATACCTTCTCAGCTGCCAG -3'
(R):5'- AGGGTACTAAGGGTTCCTCC -3'
Sequencing Primer
(F):5'- GGCAGCCTAAGCAACACGG -3'
(R):5'- CTGCTATCCTGTGAGACA -3'
|
Posted On |
2019-06-07 |