Mutagenetix > Incidental Mutation

Incidental Mutation 'R4644:Mgst1'

351770

Institutional Source

Beutler Lab

Gene Symbol

Mgst1

Ensembl Gene

ENSMUSG00000008540

Gene Name

microsomal glutathione S-transferase 1

Synonyms

1500002K10Rik

MMRRC Submission

041905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R4644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138117525-138133753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138133368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 50 (Y50H)

Ref Sequence

ENSEMBL: ENSMUSP00000145306 (fasta)

Gene Model

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

AlphaFold

Q91VS7

Predicted Effect

probably benign
Transcript: ENSMUST00000008684
AA Change: Y154H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000008684
Gene: ENSMUSG00000008540
AA Change: Y154H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118091
AA Change: Y228H

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112923
Gene: ENSMUSG00000008540
AA Change: Y228H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120230
AA Change: Y154H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113859
Gene: ENSMUSG00000008540
AA Change: Y154H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120302
AA Change: Y154H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113257
Gene: ENSMUSG00000008540
AA Change: Y154H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120939

SMART Domains

Protein: ENSMUSP00000112646
Gene: ENSMUSG00000008540

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140932
AA Change: Y50H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145306
Gene: ENSMUSG00000008540
AA Change: Y50H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204628

Meta Mutation Damage Score

0.2791

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (44/45)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	G	1: 165,378,930 (GRCm39)		probably null	Het
Ano5	C	A	7: 51,237,433 (GRCm39)	Y702*	probably null	Het
Bsph2	A	T	7: 13,304,942 (GRCm39)	V11E	possibly damaging	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cflar	T	A	1: 58,770,426 (GRCm39)	I173N	probably damaging	Het
Dgkd	T	C	1: 87,864,016 (GRCm39)	V904A	probably damaging	Het
Dnajc21	T	C	15: 10,464,003 (GRCm39)	D54G	possibly damaging	Het
Doc2a	C	A	7: 126,450,618 (GRCm39)	T298K	probably benign	Het
Dsg1a	A	T	18: 20,473,785 (GRCm39)	I953L	probably benign	Het
Fga	C	A	3: 82,937,573 (GRCm39)	A150E	possibly damaging	Het
Frem3	T	A	8: 81,340,356 (GRCm39)	M883K	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Klhdc4	G	C	8: 122,548,739 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nsmaf	A	G	4: 6,419,940 (GRCm39)		probably benign	Het
Pp2d1	T	C	17: 53,823,015 (GRCm39)	K17R	probably benign	Het
Prss39	C	T	1: 34,541,207 (GRCm39)	T237M	probably damaging	Het
Ptpra	T	C	2: 130,386,078 (GRCm39)	I595T	probably damaging	Het
Ptpre	C	T	7: 135,253,661 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,807,416 (GRCm39)	C728*	probably null	Het
Scn11a	C	T	9: 119,644,269 (GRCm39)		probably null	Het
Scn1b	A	T	7: 30,817,212 (GRCm39)	L170*	probably null	Het
Semp2l2b	A	G	10: 21,942,660 (GRCm39)	V440A	probably benign	Het
Slc35f3	A	G	8: 127,047,809 (GRCm39)	R50G	possibly damaging	Het
Sorcs3	G	A	19: 48,672,036 (GRCm39)	V412M	probably damaging	Het
Spg11	C	T	2: 121,891,510 (GRCm39)	V1954I	probably benign	Het
Srcap	C	T	7: 127,151,770 (GRCm39)	R2049C	probably damaging	Het
Ssh2	T	C	11: 77,340,402 (GRCm39)	V518A	possibly damaging	Het
Stab1	G	A	14: 30,862,444 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,937,963 (GRCm39)	F1570S	probably benign	Het
Tpr	T	A	1: 150,299,250 (GRCm39)	V1076E	probably benign	Het
Ttn	A	T	2: 76,562,757 (GRCm39)	Y26986*	probably null	Het
Unc45a	C	T	7: 79,978,257 (GRCm39)	A673T	probably damaging	Het
Utp25	A	G	1: 192,810,788 (GRCm39)	Y72H	probably damaging	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
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
R6755:Mgst1	UTSW	6	138,124,770 (GRCm39)	missense	probably damaging	0.99
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'- AGCCCACCTGAATGATCTTG -3'
(R):5'- AAGAATAGAGCCTACTGATGCTAG -3'

Sequencing Primer
(F):5'- TGTACTCCCTGAGTGGACCAGATC -3'
(R):5'- GAGCCTACTGATGCTAGTCTTTTAAC -3'

Posted On

2015-10-08