Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03088:Gstm2'

418209

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gstm2

Ensembl Gene

ENSMUSG00000040562

Gene Name

glutathione S-transferase, mu 2

Synonyms

Gstb-2, Gstb2

Accession Numbers

Essential gene?

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

Stock #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

107889018-107893736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107893362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 34 (T34S)

Ref Sequence

ENSEMBL: ENSMUSP00000012348 (fasta)

Gene Model

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

AlphaFold

P15626

Predicted Effect

probably benign
Transcript: ENSMUST00000012348
AA Change: T34S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562
AA Change: T34S

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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150808

Coding Region Coverage

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,210 (GRCm39)	L299R	unknown	Het
Abca9	T	G	11: 110,035,087 (GRCm39)	R693S	probably benign	Het
Adamts20	A	T	15: 94,227,795 (GRCm39)		probably null	Het
Afg1l	T	A	10: 42,302,493 (GRCm39)	D169V	probably damaging	Het
Agbl1	T	A	7: 76,369,890 (GRCm39)	M663K	probably benign	Het
Angpt2	T	A	8: 18,791,039 (GRCm39)	I86F	probably benign	Het
Ankrd2	G	A	19: 42,030,424 (GRCm39)	E160K	probably null	Het
As3mt	G	T	19: 46,696,233 (GRCm39)	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,791,171 (GRCm39)		probably benign	Het
Atp6v0d1	T	A	8: 106,257,591 (GRCm39)	I113F	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Bicdl1	A	G	5: 115,801,881 (GRCm39)	V59A	possibly damaging	Het
Brsk1	A	G	7: 4,713,453 (GRCm39)		probably benign	Het
Cdh17	T	A	4: 11,810,473 (GRCm39)	N721K	probably damaging	Het
Cercam	A	G	2: 29,771,699 (GRCm39)		probably benign	Het
Clpb	T	A	7: 101,434,656 (GRCm39)	L484*	probably null	Het
Creb3l1	T	A	2: 91,825,739 (GRCm39)	M127L	probably benign	Het
Cstdc1	A	T	2: 148,625,327 (GRCm39)	H87L	possibly damaging	Het
Ctla2b	A	C	13: 61,043,874 (GRCm39)	D122E	probably damaging	Het
Cyb5rl	C	A	4: 106,938,225 (GRCm39)	Y12*	probably null	Het
Dennd5a	T	C	7: 109,507,588 (GRCm39)	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,600,411 (GRCm39)	S419A	probably benign	Het
Elapor1	A	G	3: 108,443,674 (GRCm39)	W31R	probably damaging	Het
Fbxo38	A	G	18: 62,655,543 (GRCm39)	V381A	possibly damaging	Het
Flg2	A	T	3: 93,110,498 (GRCm39)	H842L	unknown	Het
Fn1	A	T	1: 71,653,197 (GRCm39)		probably null	Het
Fos	A	C	12: 85,522,630 (GRCm39)	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,679,669 (GRCm39)	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Gsta4	T	C	9: 78,113,345 (GRCm39)		probably benign	Het
Haspin	C	T	11: 73,027,451 (GRCm39)	R546Q	probably damaging	Het
Itgad	G	A	7: 127,802,204 (GRCm39)	R958H	probably benign	Het
Kansl1l	A	T	1: 66,774,884 (GRCm39)	H647Q	probably damaging	Het
Kif5c	A	C	2: 49,634,455 (GRCm39)	R762S	probably benign	Het
Klf4	C	A	4: 55,530,758 (GRCm39)	A68S	possibly damaging	Het
Klf4	A	G	4: 55,530,811 (GRCm39)	L50P	probably damaging	Het
Kmt2c	T	C	5: 25,504,802 (GRCm39)	E3502G	probably damaging	Het
Krt8	A	G	15: 101,909,022 (GRCm39)	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,287,649 (GRCm39)	T112S	probably damaging	Het
Lpxn	T	C	19: 12,810,575 (GRCm39)	C340R	probably damaging	Het
Man2a2	C	T	7: 80,009,082 (GRCm39)	V844M	possibly damaging	Het
Map10	G	A	8: 126,397,809 (GRCm39)	E401K	probably benign	Het
Mark4	A	T	7: 19,185,509 (GRCm39)	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,910,945 (GRCm39)	M81R	probably damaging	Het
Mup3	A	G	4: 62,005,079 (GRCm39)	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,404,769 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,970,476 (GRCm39)	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,574,121 (GRCm39)		probably null	Het
Nos1	C	A	5: 118,005,323 (GRCm39)	N14K	probably damaging	Het
Nova2	G	T	7: 18,684,494 (GRCm39)	V116F	unknown	Het
Obox3	G	A	7: 15,360,927 (GRCm39)		probably benign	Het
Or10h1	A	T	17: 33,418,534 (GRCm39)	T171S	probably benign	Het
Or2t46	T	A	11: 58,472,653 (GRCm39)		probably benign	Het
Or5v1	A	G	17: 37,809,539 (GRCm39)		probably benign	Het
Or8b50	A	T	9: 38,518,597 (GRCm39)	S279C	probably damaging	Het
P2rx5	T	A	11: 73,056,446 (GRCm39)		probably benign	Het
Parvb	T	A	15: 84,193,044 (GRCm39)		probably benign	Het
Popdc2	A	T	16: 38,194,184 (GRCm39)	T202S	probably damaging	Het
Ppm1j	T	A	3: 104,692,725 (GRCm39)	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,740,058 (GRCm39)	L484M	probably damaging	Het
Septin14	A	G	5: 129,774,797 (GRCm39)		probably benign	Het
Slf1	A	G	13: 77,232,554 (GRCm39)	C517R	probably damaging	Het
Smyd3	A	G	1: 178,921,898 (GRCm39)		probably null	Het
Snx9	A	G	17: 5,974,885 (GRCm39)	T458A	probably benign	Het
Srgap1	T	C	10: 121,661,598 (GRCm39)	D514G	possibly damaging	Het
Tbc1d14	A	G	5: 36,682,308 (GRCm39)	S311P	probably damaging	Het
Timd6	C	A	11: 46,475,244 (GRCm39)	F146L	probably benign	Het
Tmem150c	T	G	5: 100,234,076 (GRCm39)	K91N	probably damaging	Het
Traf3	T	A	12: 111,228,277 (GRCm39)	M471K	probably damaging	Het
Tubd1	G	T	11: 86,443,825 (GRCm39)	G178C	probably damaging	Het
Vav2	T	C	2: 27,157,262 (GRCm39)	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,742,301 (GRCm39)	H225L	probably benign	Het
Wrn	A	T	8: 33,758,851 (GRCm39)		probably benign	Het
Xpo7	T	G	14: 70,918,702 (GRCm39)	S710R	probably benign	Het
Zfp780b	C	T	7: 27,662,417 (GRCm39)	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,378,592 (GRCm39)	I197N	probably 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
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
R6918:Gstm2	UTSW	3	107,892,557 (GRCm39)	splice 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

Posted On

2016-08-02