Mutagenetix > Incidental Mutation

Incidental Mutation 'R7295:Mgst1'

566670

Institutional Source

Beutler Lab

Gene Symbol

Mgst1

Ensembl Gene

ENSMUSG00000008540

Gene Name

microsomal glutathione S-transferase 1

Synonyms

1500002K10Rik

MMRRC Submission

045363-MU

Accession Numbers

Essential gene?

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

Stock #

R7295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138117525-138133753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138124754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 23 (I23F)

Ref Sequence

ENSEMBL: ENSMUSP00000008684 (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: I23F

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000008684
Gene: ENSMUSG00000008540
AA Change: I23F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118091
AA Change: I97F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112923
Gene: ENSMUSG00000008540
AA Change: I97F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120230
AA Change: I23F

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113859
Gene: ENSMUSG00000008540
AA Change: I23F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120302
AA Change: I23F

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113257
Gene: ENSMUSG00000008540
AA Change: I23F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120939
AA Change: I23F

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

SMART Domains

Protein: ENSMUSP00000112646
Gene: ENSMUSG00000008540
AA Change: I23F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125810
AA Change: I63F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114222
Gene: ENSMUSG00000008540
AA Change: I63F

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

possibly damaging
Transcript: ENSMUST00000204628
AA Change: I23F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Acp7	A	T	7: 28,328,955 (GRCm39)	F75Y	possibly damaging	Het
Adamts19	T	A	18: 58,970,955 (GRCm39)	Y180N	probably damaging	Het
Adck1	G	T	12: 88,397,815 (GRCm39)	D150Y	probably damaging	Het
Alb	T	A	5: 90,610,693 (GRCm39)		probably null	Het
Baat	A	T	4: 49,490,275 (GRCm39)	Y270N	probably damaging	Het
Bmp7	A	T	2: 172,781,690 (GRCm39)	I58N	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
Cbfa2t3	T	G	8: 123,364,768 (GRCm39)	D338A	probably benign	Het
Ccnd2	A	T	6: 127,125,725 (GRCm39)	C104S	possibly damaging	Het
Clip1	G	T	5: 123,765,419 (GRCm39)	Q713K	probably benign	Het
Ddx28	G	A	8: 106,737,476 (GRCm39)	S194L	probably benign	Het
Dync1h1	T	C	12: 110,631,183 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,902 (GRCm39)	Y193*	probably null	Het
Eprs1	A	G	1: 185,150,407 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,967,589 (GRCm39)	I63R	probably damaging	Het
Fam171a2	T	C	11: 102,329,064 (GRCm39)	E565G	possibly damaging	Het
Fbn1	T	A	2: 125,177,407 (GRCm39)	D1810V	probably damaging	Het
Foxj2	T	C	6: 122,817,190 (GRCm39)	S506P	probably benign	Het
Frmpd1	A	G	4: 45,285,700 (GRCm39)	E1507G	probably damaging	Het
Gfm1	G	A	3: 67,347,514 (GRCm39)	V258I	probably benign	Het
Gphn	T	C	12: 78,538,876 (GRCm39)	V174A	probably benign	Het
Gtpbp3	C	A	8: 71,942,139 (GRCm39)	S123R	possibly damaging	Het
H2bc8	T	C	13: 23,755,943 (GRCm39)	S113P	probably benign	Het
Hbs1l	T	C	10: 21,186,051 (GRCm39)	V491A	probably benign	Het
Hoxc12	A	G	15: 102,846,810 (GRCm39)	N234S	probably damaging	Het
Il22b	A	T	10: 118,130,848 (GRCm39)	L16*	probably null	Het
Kcnj5	T	C	9: 32,234,087 (GRCm39)	D76G	probably damaging	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Lonp1	G	T	17: 56,929,495 (GRCm39)	Q181K	possibly damaging	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Myocos	T	C	1: 162,484,687 (GRCm39)	R41G	unknown	Het
Myod1	A	G	7: 46,027,643 (GRCm39)	D261G	probably benign	Het
Nop14	C	T	5: 34,796,376 (GRCm39)	R781Q	probably damaging	Het
Nsmaf	A	G	4: 6,438,083 (GRCm39)	V63A	probably benign	Het
Ntsr1	A	T	2: 180,142,725 (GRCm39)	H172L	probably damaging	Het
Or4k6	T	C	14: 50,476,073 (GRCm39)	K90E	probably damaging	Het
Or8b1c	A	T	9: 38,384,739 (GRCm39)	E232V	probably benign	Het
Pcdha11	T	C	18: 37,139,979 (GRCm39)	V536A	probably damaging	Het
Pcdha6	T	A	18: 37,101,189 (GRCm39)	N127K	probably damaging	Het
Prps1l1	T	A	12: 35,035,679 (GRCm39)	C265S	probably benign	Het
Prune2	A	G	19: 17,097,261 (GRCm39)	S922G	probably benign	Het
Qpctl	A	T	7: 18,883,055 (GRCm39)	M19K	probably benign	Het
Rad51	C	T	2: 118,964,599 (GRCm39)	T230I	possibly damaging	Het
Rad9b	A	G	5: 122,472,341 (GRCm39)	F246L	possibly damaging	Het
Rarb	A	T	14: 16,508,932 (GRCm38)		probably null	Het
Sdcbp2	T	C	2: 151,429,321 (GRCm39)	S214P	possibly damaging	Het
Slc22a1	T	A	17: 12,875,892 (GRCm39)	M441L	probably benign	Het
Slc35f1	G	A	10: 52,938,637 (GRCm39)	V190I	probably benign	Het
Spon1	A	T	7: 113,629,475 (GRCm39)	Q373L	possibly damaging	Het
Ssbp2	T	A	13: 91,842,122 (GRCm39)		probably null	Het
Sult1e1	T	A	5: 87,726,512 (GRCm39)	R201*	probably null	Het
Traj32	T	A	14: 54,423,606 (GRCm39)	L16Q		Het
Ttc16	T	C	2: 32,664,437 (GRCm39)	I67V	probably null	Het
Ttn	T	A	2: 76,556,899 (GRCm39)	K30035N	probably damaging	Het
Ttn	T	A	2: 76,776,473 (GRCm39)	Y1607F	unknown	Het
Usp16	G	A	16: 87,268,977 (GRCm39)	R290H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Xpnpep3	A	G	15: 81,298,735 (GRCm39)	H56R	probably damaging	Het
Zfp592	G	T	7: 80,674,070 (GRCm39)	D345Y	probably damaging	Het
Zfp931	A	T	2: 177,709,824 (GRCm39)	Y187*	probably null	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
R6755:Mgst1	UTSW	6	138,124,770 (GRCm39)	missense	probably damaging	0.99
R6791:Mgst1	UTSW	6	138,118,805 (GRCm39)	intron	probably benign
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'- TGTGATGTCAGGTTGCCAAG -3'
(R):5'- GCACGCTCTGCTATTGAATG -3'

Sequencing Primer
(F):5'- ATGTCAGGTTGCCAAGTGACC -3'
(R):5'- TAGATGATAGAACATAGATG -3'

Posted On

2019-06-26