Mutagenetix > Incidental Mutation

Incidental Mutation 'R6697:Mgst1'

528618

Institutional Source

Beutler Lab

Gene Symbol

Mgst1

Ensembl Gene

ENSMUSG00000008540

Gene Name

microsomal glutathione S-transferase 1

Synonyms

1500002K10Rik

MMRRC Submission

044815-MU

Accession Numbers

Essential gene?

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

Stock #

R6697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138117525-138133753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138124751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 22 (I22V)

Ref Sequence

ENSEMBL: ENSMUSP00000144912 (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: I22V

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000008684
Gene: ENSMUSG00000008540
AA Change: I22V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118091
AA Change: I96V

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112923
Gene: ENSMUSG00000008540
AA Change: I96V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120230
AA Change: I22V

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113859
Gene: ENSMUSG00000008540
AA Change: I22V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120302
AA Change: I22V

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113257
Gene: ENSMUSG00000008540
AA Change: I22V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120939
AA Change: I22V

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112646
Gene: ENSMUSG00000008540
AA Change: I22V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125810
AA Change: I62V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114222
Gene: ENSMUSG00000008540
AA Change: I62V

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: I22V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,281,870 (GRCm39)	S562*	probably null	Het
Arhgap9	T	C	10: 127,157,989 (GRCm39)	F2S	probably benign	Het
C2cd6	ATGTGGCCTGTCTTCT	A	1: 59,090,247 (GRCm39)		probably benign	Het
Clk1	A	G	1: 58,453,781 (GRCm39)	S298P	probably benign	Het
Col7a1	T	A	9: 108,799,601 (GRCm39)	L1834Q	probably damaging	Het
Dip2c	T	C	13: 9,671,949 (GRCm39)	L1007P	probably damaging	Het
Erich3	G	T	3: 154,469,907 (GRCm39)		probably benign	Het
Fam209	A	G	2: 172,316,123 (GRCm39)	E166G	probably damaging	Het
Fbxl4	A	G	4: 22,376,599 (GRCm39)	T12A	probably benign	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
Grin2a	T	C	16: 9,487,704 (GRCm39)	D398G	possibly damaging	Het
Hmx2	T	C	7: 131,157,663 (GRCm39)	L259P	probably damaging	Het
Macc1	A	T	12: 119,410,991 (GRCm39)	R586S	possibly damaging	Het
Map3k14	T	C	11: 103,117,890 (GRCm39)	E634G	probably benign	Het
Mettl21e	G	T	1: 44,249,327 (GRCm39)	L110I	probably damaging	Het
Muc16	T	C	9: 18,552,587 (GRCm39)	T4569A	probably benign	Het
Neu4	A	G	1: 93,952,752 (GRCm39)	K374E	probably benign	Het
Nufip1	A	G	14: 76,370,513 (GRCm39)	T405A	probably benign	Het
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Tial1	G	T	7: 128,046,593 (GRCm39)	Q68K	possibly damaging	Het
Znrd2	A	G	19: 5,780,458 (GRCm39)	L180P	probably damaging	Het
Zp1	T	A	19: 10,892,199 (GRCm39)	I62L	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
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'- GGACAATGAAGTTAGTGCTGTG -3'
(R):5'- TCACAGCATAGCACGCTCTG -3'

Sequencing Primer
(F):5'- GATGTCAGGTTGCCAAGTGACC -3'
(R):5'- TGATAGAACATAGATGATAG -3'

Posted On

2018-07-24