Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Mgll'

403476

Institutional Source

Beutler Lab

Gene Symbol

Mgll

Ensembl Gene

ENSMUSG00000033174

Gene Name

monoglyceride lipase

Synonyms

Magl

MMRRC Submission

042789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88701397-88805342 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 88743311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 110 (C110*)

Ref Sequence

ENSEMBL: ENSMUSP00000145068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089449] [ENSMUST00000113581] [ENSMUST00000113582] [ENSMUST00000113585] [ENSMUST00000150180] [ENSMUST00000163271] [ENSMUST00000203608] [ENSMUST00000203824]

AlphaFold

O35678

Predicted Effect

probably benign
Transcript: ENSMUST00000089449

SMART Domains

Protein: ENSMUSP00000086872
Gene: ENSMUSG00000033174

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

SMART Domains

Protein: ENSMUSP00000109211
Gene: ENSMUSG00000033174

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 benign
Transcript: ENSMUST00000113585

SMART Domains

Protein: ENSMUSP00000109215
Gene: ENSMUSG00000033174

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 null
Transcript: ENSMUST00000150180
AA Change: C110*

SMART Domains

Protein: ENSMUSP00000145068
Gene: ENSMUSG00000033174
AA Change: C110*

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_4	39	78	3.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163271

SMART Domains

Protein: ENSMUSP00000127374
Gene: ENSMUSG00000033174

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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
2700097O09Rik	A	T	12: 55,107,947 (GRCm39)	V84D	probably damaging	Het
Abcb1b	T	C	5: 8,863,705 (GRCm39)	V220A	probably benign	Het
Actg1	A	T	11: 120,238,580 (GRCm39)	M82K	probably damaging	Het
Ahi1	T	C	10: 20,835,975 (GRCm39)	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652 (GRCm39)	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,123,799 (GRCm39)	T507A	probably benign	Het
Atg7	A	G	6: 114,701,910 (GRCm39)	D682G	probably damaging	Het
Atp13a3	A	G	16: 30,159,102 (GRCm39)	I783T	probably damaging	Het
Atp9a	T	C	2: 168,516,808 (GRCm39)	I362V	probably benign	Het
Birc6	T	A	17: 74,920,465 (GRCm39)	I168K	probably damaging	Het
Brca2	T	A	5: 150,466,445 (GRCm39)	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,688,873 (GRCm39)	I199T	probably damaging	Het
Cacng5	A	G	11: 107,768,315 (GRCm39)	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729 (GRCm39)	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,021,071 (GRCm39)	E481K	possibly damaging	Het
Cspg4b	G	A	13: 113,478,947 (GRCm39)	C1497Y	probably benign	Het
Ctr9	T	A	7: 110,644,665 (GRCm39)	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Fat3	T	C	9: 16,288,833 (GRCm39)	D230G	probably damaging	Het
Gramd4	G	A	15: 86,018,986 (GRCm39)		probably null	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Hoxd1	A	T	2: 74,594,695 (GRCm39)	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,346,757 (GRCm39)	S623P	probably benign	Het
Klhl20	A	G	1: 160,921,249 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,549,755 (GRCm39)	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mmp14	A	G	14: 54,675,120 (GRCm39)	N251D	possibly damaging	Het
Or1e33	A	T	11: 73,738,262 (GRCm39)	S230T	probably damaging	Het
Or52k2	A	G	7: 102,254,028 (GRCm39)	T156A	probably benign	Het
Or7e166	T	A	9: 19,624,585 (GRCm39)	V154E	probably benign	Het
Pfkl	T	G	10: 77,845,504 (GRCm39)	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,406,029 (GRCm39)	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,359,043 (GRCm39)	Y417*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Sulf1	T	A	1: 12,867,098 (GRCm39)	M94K	probably benign	Het
Synrg	A	G	11: 83,873,022 (GRCm39)	T157A	probably damaging	Het
Syt1	T	C	10: 108,478,118 (GRCm39)	N102S	probably benign	Het
Tnip2	C	T	5: 34,661,149 (GRCm39)	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,070,048 (GRCm39)	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,181,090 (GRCm39)	D57G	probably benign	Het
Wnt2b	A	G	3: 104,868,661 (GRCm39)	L43P	possibly damaging	Het
Zfp113	C	T	5: 138,148,977 (GRCm39)	D56N	probably damaging	Het
Zfp184	C	T	13: 22,134,406 (GRCm39)	L69F	probably damaging	Het
Zyx	T	C	6: 42,333,466 (GRCm39)	V464A	probably 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
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
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'- AATTTGATTTGCCAGGAGCCC -3'
(R):5'- TCAGTTTATCTGATCAGCCGG -3'

Sequencing Primer
(F):5'- CAGGAGCCCCTTTTAAGCTAGATG -3'
(R):5'- CTGACGCTGAGCTGTAAGAC -3'

Posted On

2016-07-22