Mutagenetix > Incidental Mutation

Incidental Mutation 'R6741:Mgst1'

530446

Institutional Source

Beutler Lab

Gene Symbol

Mgst1

Ensembl Gene

ENSMUSG00000008540

Gene Name

microsomal glutathione S-transferase 1

Synonyms

1500002K10Rik

MMRRC Submission

044858-MU

Accession Numbers

Essential gene?

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

Stock #

R6741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138117525-138133753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 138127836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 66 (D66A)

Ref Sequence

ENSEMBL: ENSMUSP00000112646 (fasta)

Gene Model

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

AlphaFold

Q91VS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000008684
AA Change: D66A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000008684
Gene: ENSMUSG00000008540
AA Change: D66A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118091
AA Change: D140A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112923
Gene: ENSMUSG00000008540
AA Change: D140A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120230
AA Change: D66A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113859
Gene: ENSMUSG00000008540
AA Change: D66A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120302
AA Change: D66A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113257
Gene: ENSMUSG00000008540
AA Change: D66A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120939
AA Change: D66A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112646
Gene: ENSMUSG00000008540
AA Change: D66A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125810

SMART Domains

Protein: ENSMUSP00000114222
Gene: ENSMUSG00000008540

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 benign
Transcript: ENSMUST00000204628

Meta Mutation Damage Score

0.8151

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

97% (34/35)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	C	3: 30,652,663 (GRCm39)	F144V	possibly damaging	Het
Arhgef12	A	G	9: 42,883,503 (GRCm39)	I1342T	probably benign	Het
Dbn1	A	G	13: 55,629,350 (GRCm39)		probably null	Het
Defb12	T	C	8: 19,164,757 (GRCm39)	E27G	probably benign	Het
Dennd2b	A	G	7: 109,144,304 (GRCm39)	Y534H	possibly damaging	Het
Dthd1	A	T	5: 63,000,289 (GRCm39)	H537L	probably damaging	Het
Ep400	A	T	5: 110,824,761 (GRCm39)	S2359T	unknown	Het
Epha5	T	C	5: 84,254,557 (GRCm39)	I572V	possibly damaging	Het
Grb10	C	A	11: 11,886,717 (GRCm39)		probably null	Het
Hectd2	T	C	19: 36,589,759 (GRCm39)	I628T	probably damaging	Het
Il17rb	T	A	14: 29,722,293 (GRCm39)	Q246L	possibly damaging	Het
Knop1	C	T	7: 118,445,061 (GRCm39)	R301Q	possibly damaging	Het
Lrp1b	T	C	2: 41,136,001 (GRCm39)	I1770M	possibly damaging	Het
Nags	A	G	11: 102,037,718 (GRCm39)	D237G	possibly damaging	Het
Nfatc2ip	T	A	7: 125,995,182 (GRCm39)	Q122L	possibly damaging	Het
Nod2	T	C	8: 89,379,694 (GRCm39)	V72A	probably damaging	Het
Notch3	G	T	17: 32,362,458 (GRCm39)	P1389Q	probably benign	Het
Or5ac25	A	G	16: 59,181,918 (GRCm39)	L221P	probably damaging	Het
Plekhn1	A	T	4: 156,306,249 (GRCm39)	I607N	probably damaging	Het
Plekho2	C	A	9: 65,471,197 (GRCm39)	R84L	probably damaging	Het
Prag1	A	T	8: 36,614,434 (GRCm39)	M1329L	probably benign	Het
Prpsap2	C	T	11: 61,631,771 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,080,565 (GRCm39)	S1230P	probably benign	Het
Rigi	A	G	4: 40,211,624 (GRCm39)	I648T	probably damaging	Het
Rptor	T	G	11: 119,786,803 (GRCm39)	L1256R	possibly damaging	Het
Sesn3	T	C	9: 14,231,636 (GRCm39)	I189T	possibly damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
Tnfsf13b	T	C	8: 10,057,314 (GRCm39)	F128S	possibly damaging	Het
Vmn1r49	A	G	6: 90,049,195 (GRCm39)	V269A	probably benign	Het
Vmn2r69	T	A	7: 85,061,724 (GRCm39)	E83D	probably benign	Het
Vmn2r76	T	C	7: 85,879,560 (GRCm39)	N247D	probably benign	Het
Zmym4	A	G	4: 126,808,878 (GRCm39)	S390P	possibly 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
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
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'- TATTTGGAAGTAGGGCGCTC -3'
(R):5'- CCCCATGTGGAGAACTCTATG -3'

Sequencing Primer
(F):5'- AAGTAGGGCGCTCATTTTGG -3'
(R):5'- TGTATCTAATTTGCTGGAGTTGTTAC -3'

Posted On

2018-08-01