Mutagenetix > Incidental Mutation

Incidental Mutation 'R6545:Mgll'

521100

Institutional Source

Beutler Lab

Gene Symbol

Mgll

Ensembl Gene

ENSMUSG00000033174

Gene Name

monoglyceride lipase

Synonyms

Magl

MMRRC Submission

044671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6545 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88701397-88805342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88802685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 296 (N296S)

Ref Sequence

ENSEMBL: ENSMUSP00000127374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089449] [ENSMUST00000113581] [ENSMUST00000113582] [ENSMUST00000113585] [ENSMUST00000163271] [ENSMUST00000203608] [ENSMUST00000203824]

AlphaFold

O35678

Predicted Effect

probably benign
Transcript: ENSMUST00000089449
AA Change: N280S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086872
Gene: ENSMUSG00000033174
AA Change: N280S

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 benign
Transcript: ENSMUST00000113581
AA Change: N308S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109211
Gene: ENSMUSG00000033174
AA Change: N308S

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
AA Change: N235S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109212
Gene: ENSMUSG00000033174
AA Change: N235S

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 benign
Transcript: ENSMUST00000113585
AA Change: N280S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109215
Gene: ENSMUSG00000033174
AA Change: N280S

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 benign
Transcript: ENSMUST00000163271
AA Change: N296S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127374
Gene: ENSMUSG00000033174
AA Change: N296S

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

Meta Mutation Damage Score

0.0660

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

95% (42/44)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,348,145 (GRCm39)	A58T	possibly damaging	Het
Ago4	T	A	4: 126,405,811 (GRCm39)	Q366L	probably benign	Het
Card10	C	A	15: 78,661,010 (GRCm39)	G950V	probably damaging	Het
Ceacam1	A	T	7: 25,173,279 (GRCm39)	V303D	probably damaging	Het
Cfap54	C	T	10: 92,672,319 (GRCm39)	R2917H	probably benign	Het
Cit	A	G	5: 115,984,493 (GRCm39)	S22G	probably null	Het
Cog4	A	G	8: 111,607,577 (GRCm39)	E666G	probably damaging	Het
Crocc2	A	G	1: 93,140,659 (GRCm39)	D1103G	probably benign	Het
Cttnbp2	A	T	6: 18,405,278 (GRCm39)		probably null	Het
Dctn3	T	C	4: 41,723,084 (GRCm39)	E16G	probably damaging	Het
Dnah6	A	G	6: 73,021,715 (GRCm39)	S3536P	probably damaging	Het
Eef2	T	A	10: 81,016,948 (GRCm39)	I675N	probably damaging	Het
Gga3	A	G	11: 115,477,995 (GRCm39)	F531S	possibly damaging	Het
Gm19410	A	G	8: 36,257,652 (GRCm39)	R697G	possibly damaging	Het
Gm3173	T	A	14: 15,728,395 (GRCm39)	M18K	possibly damaging	Het
Gm5800	A	T	14: 51,949,419 (GRCm39)	S175R	possibly damaging	Het
Gria2	T	C	3: 80,648,451 (GRCm39)	K95R	probably damaging	Het
Gstm6	A	G	3: 107,849,681 (GRCm39)	I76T	probably damaging	Het
Harbi1	T	G	2: 91,542,640 (GRCm39)	Y34D	probably damaging	Het
Hectd2	C	A	19: 36,564,778 (GRCm39)	Q20K	probably benign	Het
Inpp5f	C	A	7: 128,296,280 (GRCm39)	A250D	possibly damaging	Het
Irf9	T	C	14: 55,842,684 (GRCm39)	F59L	probably damaging	Het
Itgam	T	A	7: 127,707,044 (GRCm39)	M625K	probably damaging	Het
Kcnh5	C	T	12: 75,054,432 (GRCm39)	R504Q	probably damaging	Het
Lama2	T	C	10: 27,052,793 (GRCm39)	T1389A	probably benign	Het
Lin54	T	A	5: 100,632,996 (GRCm39)		probably null	Het
Mettl23	A	G	11: 116,740,042 (GRCm39)	D171G	possibly damaging	Het
Mpv17	T	A	5: 31,302,041 (GRCm39)		probably benign	Het
Myof	A	T	19: 37,930,745 (GRCm39)	M1001K	possibly damaging	Het
Myom1	A	T	17: 71,389,300 (GRCm39)	Q850L	probably benign	Het
Or10ab5	A	T	7: 108,245,662 (GRCm39)	N40K	probably damaging	Het
Pias2	A	G	18: 77,217,781 (GRCm39)	I328V	possibly damaging	Het
Polh	G	A	17: 46,493,685 (GRCm39)	P311S	possibly damaging	Het
Prss34	A	T	17: 25,517,809 (GRCm39)	R61S	probably benign	Het
Rassf2	A	T	2: 131,840,237 (GRCm39)	M280K	probably damaging	Het
Rpsa	A	G	9: 119,959,323 (GRCm39)	H47R	probably benign	Het
Rtp3	A	G	9: 110,815,894 (GRCm39)	V219A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,997 (GRCm39)	I790T	probably benign	Het
Stag3	A	G	5: 138,296,614 (GRCm39)	T491A	possibly damaging	Het
Svil	C	T	18: 5,108,621 (GRCm39)	H2007Y	probably benign	Het
Togaram1	T	G	12: 65,024,981 (GRCm39)	C750G	possibly damaging	Het
Vmn2r13	A	T	5: 109,304,806 (GRCm39)		probably null	Het
Vmn2r4	A	T	3: 64,313,777 (GRCm39)	D401E	possibly damaging	Het
Wdr97	C	T	15: 76,247,578 (GRCm39)	R1585C	probably damaging	Het
Wsb1	A	T	11: 79,141,881 (GRCm39)	D45E	probably damaging	Het
Zfp808	T	A	13: 62,319,709 (GRCm39)	Y313N	probably benign	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
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
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'- ATACCTTCTCAGCTGCCAGG -3'
(R):5'- GCACTAGGGTACTAAGGGTTC -3'

Sequencing Primer
(F):5'- CGTCCCATCTAAAAATGAAGTAGG -3'
(R):5'- CATGTTCAGGGTGGACA -3'

Posted On

2018-06-06