Mutagenetix > Incidental Mutation

Incidental Mutation 'R6918:Gstm2'

539437

Institutional Source

Beutler Lab

Gene Symbol

Gstm2

Ensembl Gene

ENSMUSG00000040562

Gene Name

glutathione S-transferase, mu 2

Synonyms

Gstb-2, Gstb2

MMRRC Submission

045005-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6918 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107889018-107893736 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 107892557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012348] [ENSMUST00000066530]

AlphaFold

P15626

Predicted Effect

probably null
Transcript: ENSMUST00000012348

SMART Domains

Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	2.9e-24	PFAM
Pfam:GST_C_3	41	190	1.2e-10	PFAM
Pfam:GST_C	104	191	5.7e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000066530

SMART Domains

Protein: ENSMUSP00000066675
Gene: ENSMUSG00000040562

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	48	6.8e-12	PFAM
Pfam:GST_C	70	158	8.4e-20	PFAM
Pfam:GST_C_3	84	156	1.7e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	C	17: 24,627,632 (GRCm39)	K1359Q	probably damaging	Het
Ace	T	C	11: 105,863,769 (GRCm39)	Y406H	probably damaging	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,599,643 (GRCm39)	Y1959N	possibly damaging	Het
Chrna7	T	A	7: 62,809,299 (GRCm39)	I76F	probably benign	Het
Cuedc1	C	T	11: 88,077,899 (GRCm39)	T296I	probably benign	Het
Ddc	A	G	11: 11,769,307 (GRCm39)	V409A	probably damaging	Het
Dhx8	T	A	11: 101,629,247 (GRCm39)	Y212*	probably null	Het
Dnah6	T	A	6: 73,158,738 (GRCm39)	K622*	probably null	Het
Dscaml1	A	G	9: 45,341,805 (GRCm39)	H72R	probably benign	Het
Dyrk1b	A	G	7: 27,885,350 (GRCm39)	D396G	probably damaging	Het
Hsd3b1	A	G	3: 98,760,425 (GRCm39)	Y189H	probably damaging	Het
Kif1c	G	A	11: 70,597,813 (GRCm39)	E356K	probably damaging	Het
Kirrel2	A	C	7: 30,150,239 (GRCm39)	C17G	probably damaging	Het
Klhl12	A	G	1: 134,403,584 (GRCm39)	H259R	possibly damaging	Het
Krt1	A	G	15: 101,758,612 (GRCm39)	V184A	probably damaging	Het
Lmod2	A	T	6: 24,603,594 (GRCm39)	N190Y	probably benign	Het
Lrp2	A	C	2: 69,319,649 (GRCm39)	V1958G	probably damaging	Het
Ly6h	T	C	15: 75,437,507 (GRCm39)	S37G	probably damaging	Het
Man2a2	A	T	7: 80,002,940 (GRCm39)	H1056Q	possibly damaging	Het
Misp3	T	G	8: 84,738,313 (GRCm39)	M1L	probably benign	Het
Mixl1	T	A	1: 180,522,243 (GRCm39)	I213F	probably benign	Het
Morc3	T	C	16: 93,650,023 (GRCm39)	I268T	probably benign	Het
Mtx2	C	T	2: 74,706,697 (GRCm39)	T224I	probably damaging	Het
Or8c15	G	A	9: 38,120,948 (GRCm39)	V198M	possibly damaging	Het
Oscp1	A	C	4: 125,970,571 (GRCm39)	D120A	possibly damaging	Het
Parp1	G	A	1: 180,416,235 (GRCm39)	V545I	possibly damaging	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pkp2	A	G	16: 16,090,082 (GRCm39)	Y790C	probably damaging	Het
Pomt1	T	A	2: 32,142,873 (GRCm39)		probably null	Het
Pp2d1	G	A	17: 53,822,487 (GRCm39)	T193M	probably damaging	Het
Prkra	G	T	2: 76,460,797 (GRCm39)	H300Q	probably damaging	Het
Ror2	T	G	13: 53,265,487 (GRCm39)	N523T	probably damaging	Het
Rp1	A	T	1: 4,069,831 (GRCm39)	D1355E	unknown	Het
Rsph4a	T	C	10: 33,781,272 (GRCm39)	Y41H	probably benign	Het
Scn1a	T	A	2: 66,162,557 (GRCm39)	I230F	probably damaging	Het
Taar7e	T	A	10: 23,913,513 (GRCm39)	M1K	probably null	Het
Tex15	T	G	8: 34,063,212 (GRCm39)	L1155V	probably benign	Het
Tmprss3	T	C	17: 31,407,331 (GRCm39)	K321E	probably benign	Het
Trappc14	A	G	5: 138,258,926 (GRCm39)	V211A	probably benign	Het
Tsc2	A	T	17: 24,832,203 (GRCm39)	C728S	probably damaging	Het
Ube2e3	A	T	2: 78,750,383 (GRCm39)	K203M	probably damaging	Het
Unc50	A	T	1: 37,477,783 (GRCm39)	T222S	probably damaging	Het
Vmn1r236	A	T	17: 21,507,878 (GRCm39)	H332L	probably benign	Het
Vmn2r7	G	A	3: 64,598,760 (GRCm39)	T599I	probably benign	Het
Zfp334	A	T	2: 165,223,799 (GRCm39)	D81E	possibly damaging	Het
Zfp710	A	G	7: 79,731,788 (GRCm39)	I322V	possibly damaging	Het

Other mutations in Gstm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Gstm2	APN	3	107,892,559 (GRCm39)	splice site	probably null
IGL01821:Gstm2	APN	3	107,892,369 (GRCm39)	missense	possibly damaging	0.51
IGL02662:Gstm2	APN	3	107,892,378 (GRCm39)	missense	possibly damaging	0.94
IGL02667:Gstm2	APN	3	107,893,424 (GRCm39)	missense	probably damaging	1.00
IGL03088:Gstm2	APN	3	107,893,362 (GRCm39)	missense	probably benign	0.00
IGL03341:Gstm2	APN	3	107,891,521 (GRCm39)	missense	possibly damaging	0.86
R0415:Gstm2	UTSW	3	107,891,322 (GRCm39)	missense	probably benign	0.37
R1239:Gstm2	UTSW	3	107,891,344 (GRCm39)	missense	possibly damaging	0.61
R2213:Gstm2	UTSW	3	107,893,409 (GRCm39)	missense	probably damaging	1.00
R2437:Gstm2	UTSW	3	107,891,369 (GRCm39)	splice site	probably benign
R3765:Gstm2	UTSW	3	107,891,346 (GRCm39)	missense	probably damaging	1.00
R4402:Gstm2	UTSW	3	107,893,370 (GRCm39)	missense	probably benign	0.02
R4805:Gstm2	UTSW	3	107,892,411 (GRCm39)	missense	possibly damaging	0.92
R5791:Gstm2	UTSW	3	107,891,444 (GRCm39)	critical splice donor site	probably null
R7669:Gstm2	UTSW	3	107,892,992 (GRCm39)	missense	probably benign	0.00
R8224:Gstm2	UTSW	3	107,891,314 (GRCm39)	missense	probably benign
R8463:Gstm2	UTSW	3	107,893,672 (GRCm39)	critical splice donor site	probably null
R8918:Gstm2	UTSW	3	107,892,382 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TAGCAAACCATGGCCAACTGTATG -3'
(R):5'- AGCTCTCCCATTCAGTGCAC -3'

Sequencing Primer
(F):5'- CAACTGTATGCGGGTGTCCATAG -3'
(R):5'- ACACTGTGCCCATGGAGG -3'

Posted On

2018-11-06