Mutagenetix > Incidental Mutation

Incidental Mutation 'R8269:Mgll'

639491

Institutional Source

Beutler Lab

Gene Symbol

Mgll

Ensembl Gene

ENSMUSG00000033174

Gene Name

monoglyceride lipase

Synonyms

Magl

MMRRC Submission

067693-MU

Accession Numbers

Essential gene?

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

Stock #

R8269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88701397-88805342 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 88790930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 183 (Y183*)

Ref Sequence

ENSEMBL: ENSMUSP00000109211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089449] [ENSMUST00000113581] [ENSMUST00000113582] [ENSMUST00000113585] [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 null
Transcript: ENSMUST00000113581
AA Change: Y183*

SMART Domains

Protein: ENSMUSP00000109211
Gene: ENSMUSG00000033174
AA Change: Y183*

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 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,246,325 (GRCm38)	T489A	probably benign	Het
Adgra3	A	T	5: 50,121,079 (GRCm39)	C850S	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Akap11	G	A	14: 78,750,818 (GRCm39)	T523I		Het
Amigo2	G	T	15: 97,144,112 (GRCm39)	N103K	possibly damaging	Het
Arfgap3	A	C	15: 83,194,542 (GRCm39)	S377A	probably benign	Het
Arhgap39	G	T	15: 76,635,942 (GRCm39)	Q98K	probably benign	Het
Atp1a4	T	C	1: 172,059,892 (GRCm39)	D779G	probably damaging	Het
Bckdhb	T	C	9: 84,004,417 (GRCm39)	I388T	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cd109	A	G	9: 78,572,964 (GRCm39)	K496R	probably benign	Het
Cnot1	A	G	8: 96,478,389 (GRCm39)	F979L	probably damaging	Het
Cyb5r1	T	A	1: 134,334,803 (GRCm39)		probably benign	Het
D130040H23Rik	T	A	8: 69,755,800 (GRCm39)	S402T	probably benign	Het
Dmtf1	A	T	5: 9,182,500 (GRCm39)	Y211*	probably null	Het
Dnah6	A	G	6: 73,145,810 (GRCm39)		probably null	Het
Emc10	G	T	7: 44,141,408 (GRCm39)	Q227K	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Exosc4	A	T	15: 76,211,732 (GRCm39)	I14L	probably benign	Het
Fat2	T	C	11: 55,173,535 (GRCm39)	T2393A	possibly damaging	Het
Flg2	A	T	3: 93,109,187 (GRCm39)	H405L	possibly damaging	Het
Gin1	T	A	1: 97,710,929 (GRCm39)	M204K	probably damaging	Het
Gm57858	A	T	3: 36,100,862 (GRCm39)	N103K	possibly damaging	Het
Gnal	A	G	18: 67,268,693 (GRCm39)	D193G	possibly damaging	Het
Itpr3	G	T	17: 27,312,258 (GRCm39)	R554L	possibly damaging	Het
Lipc	A	G	9: 70,727,655 (GRCm39)	L149P	probably damaging	Het
Lrrc37a	A	G	11: 103,388,724 (GRCm39)	Y2234H	unknown	Het
Lsm14b	T	C	2: 179,674,407 (GRCm39)	S317P	probably damaging	Het
Mapk4	G	C	18: 74,063,622 (GRCm39)	F533L	probably damaging	Het
Mrrf	T	A	2: 36,037,973 (GRCm39)	D81E	possibly damaging	Het
Ncan	T	A	8: 70,560,330 (GRCm39)	Q879L	probably benign	Het
Nox4	T	G	7: 86,955,930 (GRCm39)		probably benign	Het
Or4p18	A	T	2: 88,232,381 (GRCm39)	V299D	probably damaging	Het
Or5p67	A	T	7: 107,922,776 (GRCm39)	C36S	probably benign	Het
Pcdhb10	A	G	18: 37,547,062 (GRCm39)	K713E	probably benign	Het
Phkb	A	G	8: 86,756,211 (GRCm39)	D835G	probably benign	Het
Pld1	A	G	3: 28,079,388 (GRCm39)	N63D	probably benign	Het
Pls1	G	T	9: 95,644,023 (GRCm39)	T491K	probably damaging	Het
Plscr1	A	G	9: 92,145,095 (GRCm39)	D35G	unknown	Het
Slc28a2b	C	T	2: 122,352,169 (GRCm39)	H336Y	probably damaging	Het
Slc3a1	A	G	17: 85,339,982 (GRCm39)	K180R	probably benign	Het
Suv39h1	G	T	X: 7,937,270 (GRCm39)	Q129K	probably benign	Het
Tbc1d8	A	G	1: 39,465,169 (GRCm39)	V73A	probably benign	Het
Tmem161a	T	A	8: 70,634,608 (GRCm39)	V421E	probably benign	Het
Topbp1	C	A	9: 103,205,792 (GRCm39)	P810Q	possibly damaging	Het
Ttc28	G	A	5: 111,425,325 (GRCm39)	V1717M	probably benign	Het
Vmn2r55	T	A	7: 12,404,585 (GRCm39)	T273S	possibly damaging	Het
Vwa5b2	A	G	16: 20,423,188 (GRCm39)	D1062G	probably damaging	Het
Zcrb1	A	G	15: 93,295,056 (GRCm39)	Y27H	probably benign	Het
Zfp128	G	A	7: 12,624,663 (GRCm39)	G344R	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
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
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'- ACCCAGTTGTGATCCAGTTGG -3'
(R):5'- AGGCTCTTTCCCCAAGGTTC -3'

Sequencing Primer
(F):5'- ATCCAGTTGGGTCTGACTTGCC -3'
(R):5'- TCCCCAAGGTTCTTTTAAGGATG -3'

Posted On

2020-07-28