Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Mgst1'

531009

Institutional Source

Beutler Lab

Gene Symbol

Mgst1

Ensembl Gene

ENSMUSG00000008540

Gene Name

microsomal glutathione S-transferase 1

Synonyms

1500002K10Rik

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R6755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138117525-138133753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138124770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 68 (M68K)

Ref Sequence

ENSEMBL: ENSMUSP00000114222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008684] [ENSMUST00000118091] [ENSMUST00000120230] [ENSMUST00000120302] [ENSMUST00000120939] [ENSMUST00000125810] [ENSMUST00000140932] [ENSMUST00000204628]

AlphaFold

Q91VS7

Predicted Effect

probably benign
Transcript: ENSMUST00000008684
AA Change: M28K

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000008684
Gene: ENSMUSG00000008540
AA Change: M28K

Domain	Start	End	E-Value	Type
Pfam:MAPEG	16	150	9.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118091
AA Change: M102K

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112923
Gene: ENSMUSG00000008540
AA Change: M102K

Domain	Start	End	E-Value	Type
Pfam:MAPEG	90	224	1.9e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120230
AA Change: M28K

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113859
Gene: ENSMUSG00000008540
AA Change: M28K

Domain	Start	End	E-Value	Type
Pfam:MAPEG	16	150	9.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120302
AA Change: M28K

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113257
Gene: ENSMUSG00000008540
AA Change: M28K

Domain	Start	End	E-Value	Type
Pfam:MAPEG	16	150	9.2e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120939
AA Change: M28K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112646
Gene: ENSMUSG00000008540
AA Change: M28K

Domain	Start	End	E-Value	Type
PDB:2H8A\|A	2	74	1e-45	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000125810
AA Change: M68K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114222
Gene: ENSMUSG00000008540
AA Change: M68K

Domain	Start	End	E-Value	Type
PDB:2H8A\|A	42	92	6e-29	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000140932

SMART Domains

Protein: ENSMUSP00000145306
Gene: ENSMUSG00000008540

Domain	Start	End	E-Value	Type
Pfam:MAPEG	1	46	2.9e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204628
AA Change: M28K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bpifb4	A	G	2: 153,799,658 (GRCm39)	T556A	probably damaging	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drc1	A	G	5: 30,512,490 (GRCm39)	E299G	probably damaging	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,246,405 (GRCm39)	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Il20ra	T	C	10: 19,626,542 (GRCm39)	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or52ae9	T	A	7: 103,389,707 (GRCm39)	T247S	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Sap18	A	C	14: 58,039,474 (GRCm39)	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	probably benign	Het

Other mutations in Mgst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Mgst1	APN	6	138,124,766 (GRCm39)	missense	probably damaging	0.99
R0319:Mgst1	UTSW	6	138,133,155 (GRCm39)	missense	possibly damaging	0.81
R0613:Mgst1	UTSW	6	138,133,243 (GRCm39)	missense	probably damaging	1.00
R0634:Mgst1	UTSW	6	138,133,329 (GRCm39)	missense	probably damaging	1.00
R0730:Mgst1	UTSW	6	138,124,667 (GRCm39)	missense	probably benign	0.03
R0862:Mgst1	UTSW	6	138,124,749 (GRCm39)	missense	probably damaging	1.00
R4447:Mgst1	UTSW	6	138,118,662 (GRCm39)	intron	probably benign
R4569:Mgst1	UTSW	6	138,133,213 (GRCm39)	missense	probably damaging	0.99
R4644:Mgst1	UTSW	6	138,133,368 (GRCm39)	missense	probably damaging	1.00
R4701:Mgst1	UTSW	6	138,127,836 (GRCm39)	missense	probably damaging	1.00
R4930:Mgst1	UTSW	6	138,130,507 (GRCm39)	missense	probably benign	0.00
R5688:Mgst1	UTSW	6	138,118,798 (GRCm39)	intron	probably benign
R6307:Mgst1	UTSW	6	138,127,827 (GRCm39)	missense	probably benign	0.44
R6468:Mgst1	UTSW	6	138,118,585 (GRCm39)	splice site	probably null
R6697:Mgst1	UTSW	6	138,124,751 (GRCm39)	missense	probably damaging	1.00
R6741:Mgst1	UTSW	6	138,127,836 (GRCm39)	missense	probably damaging	1.00
R6791:Mgst1	UTSW	6	138,118,805 (GRCm39)	intron	probably benign
R7295:Mgst1	UTSW	6	138,124,754 (GRCm39)	missense	probably benign	0.11
R7440:Mgst1	UTSW	6	138,127,842 (GRCm39)	missense	probably benign
R7532:Mgst1	UTSW	6	138,130,504 (GRCm39)	missense	probably benign	0.29
R8486:Mgst1	UTSW	6	138,120,026 (GRCm39)	missense	probably benign	0.00
R8954:Mgst1	UTSW	6	138,119,967 (GRCm39)	intron	probably benign
R9326:Mgst1	UTSW	6	138,120,023 (GRCm39)	missense	probably benign	0.29
R9784:Mgst1	UTSW	6	138,124,799 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGCCAAGTGACCACCAAG -3'
(R):5'- ACGCTCTGCTATTGAATGAGC -3'

Sequencing Primer
(F):5'- AGTGACCACCAAGTTACCTGGG -3'
(R):5'- CTCTGCTATTGAATGAGCTTTAAAAG -3'

Posted On

2018-08-01