Mutagenetix > Incidental Mutation

Incidental Mutation 'R2121:Gstm7'

231437

Institutional Source

Beutler Lab

Gene Symbol

Gstm7

Ensembl Gene

ENSMUSG00000004035

Gene Name

glutathione S-transferase, mu 7

Synonyms

Cd203c, 0610005A07Rik

MMRRC Submission

040125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107833650-107839133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107834230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 175 (M175V)

Ref Sequence

ENSEMBL: ENSMUSP00000102298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004137] [ENSMUST00000106687] [ENSMUST00000106688] [ENSMUST00000124215] [ENSMUST00000133947]

AlphaFold

Q80W21

Predicted Effect

probably benign
Transcript: ENSMUST00000004137
AA Change: M212V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000004137
Gene: ENSMUSG00000004035
AA Change: M212V

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	2.2e-23	PFAM
Pfam:GST_C_3	42	190	1.2e-9	PFAM
Pfam:GST_C	104	191	5.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106687
AA Change: M175V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102298
Gene: ENSMUSG00000004035
AA Change: M175V

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	6.8e-24	PFAM
Pfam:GST_N_3	11	93	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106688
AA Change: M208V

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

SMART Domains

Protein: ENSMUSP00000102299
Gene: ENSMUSG00000004035
AA Change: M208V

Domain	Start	End	E-Value	Type
Pfam:GST_N_3	4	89	8.8e-7	PFAM
Pfam:GST_N	5	78	4.2e-19	PFAM
Pfam:GST_C	100	188	5.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124215

SMART Domains

Protein: ENSMUSP00000118707
Gene: ENSMUSG00000004035

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	72	8.6e-20	PFAM
Pfam:GST_N_3	3	83	4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133947

SMART Domains

Protein: ENSMUSP00000122567
Gene: ENSMUSG00000004035

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GST_N	45	123	2.6e-19	PFAM
Pfam:GST_N_3	54	134	1.4e-6	PFAM

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adnp2	A	G	18: 80,172,385 (GRCm39)	F675L	probably benign	Het
Akna	G	A	4: 63,295,137 (GRCm39)	T1024I	probably benign	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,191,708 (GRCm39)		probably benign	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,247,704 (GRCm39)	N263Y	probably damaging	Het
Arpp21	A	G	9: 111,965,738 (GRCm39)	S375P	probably damaging	Het
Bscl2	G	T	19: 8,817,146 (GRCm39)	E25*	probably null	Het
Ccl12	T	A	11: 81,992,776 (GRCm39)	S17R	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Ceacam9	T	A	7: 16,455,928 (GRCm39)	F12I	probably benign	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Cldn23	A	G	8: 36,293,389 (GRCm39)	V33A	probably benign	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Col20a1	G	C	2: 180,638,249 (GRCm39)	A346P	probably damaging	Het
Col6a3	T	C	1: 90,738,087 (GRCm39)	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Diaph1	A	T	18: 38,029,442 (GRCm39)	M330K	unknown	Het
Dnah5	C	T	15: 28,297,151 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancl	G	T	11: 26,409,841 (GRCm39)		probably benign	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Hcn4	T	C	9: 58,731,341 (GRCm39)	S183P	unknown	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Kdm3b	T	C	18: 34,929,833 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,835,556 (GRCm39)	Y1746C	probably damaging	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mlc1	A	G	15: 88,847,634 (GRCm39)	Y305H	probably benign	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Muc4	A	G	16: 32,580,612 (GRCm39)	Y2474C	unknown	Het
Mybphl	A	C	3: 108,282,492 (GRCm39)	N175T	probably damaging	Het
Ncbp3	T	C	11: 72,944,304 (GRCm39)	V102A	possibly damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Odad4	T	A	11: 100,457,837 (GRCm39)		probably null	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Or8j3	T	A	2: 86,028,340 (GRCm39)	Y252F	possibly damaging	Het
Palb2	T	C	7: 121,727,004 (GRCm39)	T289A	possibly damaging	Het
Pde10a	A	T	17: 9,196,047 (GRCm39)	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,260,577 (GRCm39)	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,383,325 (GRCm39)		probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,355,941 (GRCm39)	M203V	possibly damaging	Het
Slc6a21	A	T	7: 44,937,886 (GRCm39)	I726F	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,177,067 (GRCm39)	S75P	probably damaging	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmed11	G	A	5: 108,943,198 (GRCm39)		probably benign	Het
Tmem81	C	A	1: 132,435,847 (GRCm39)	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,537,333 (GRCm39)	T110I	probably benign	Het
Tub	G	A	7: 108,625,944 (GRCm39)	G232S	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,315,880 (GRCm39)	T621A	probably benign	Het
Ythdf3	T	C	3: 16,259,356 (GRCm39)	F501S	possibly damaging	Het

Other mutations in Gstm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Gstm7	APN	3	107,837,594 (GRCm39)	missense	possibly damaging	0.93
PIT4142001:Gstm7	UTSW	3	107,838,799 (GRCm39)	frame shift	probably null
R0095:Gstm7	UTSW	3	107,837,879 (GRCm39)	splice site	probably benign
R0961:Gstm7	UTSW	3	107,834,302 (GRCm39)	unclassified	probably benign
R1052:Gstm7	UTSW	3	107,834,266 (GRCm39)	missense	probably benign	0.05
R4610:Gstm7	UTSW	3	107,834,235 (GRCm39)	missense	possibly damaging	0.65
R5966:Gstm7	UTSW	3	107,838,747 (GRCm39)	intron	probably benign
R6393:Gstm7	UTSW	3	107,838,142 (GRCm39)	critical splice donor site	probably null
R7014:Gstm7	UTSW	3	107,834,278 (GRCm39)	missense	probably benign	0.00
R7052:Gstm7	UTSW	3	107,838,633 (GRCm39)	missense	probably damaging	0.96
R7741:Gstm7	UTSW	3	107,838,963 (GRCm39)	missense	possibly damaging	0.90
R7848:Gstm7	UTSW	3	107,835,902 (GRCm39)	splice site	probably null
R7988:Gstm7	UTSW	3	107,834,271 (GRCm39)	missense	possibly damaging	0.82
R7998:Gstm7	UTSW	3	107,837,657 (GRCm39)	missense	probably damaging	1.00
R8952:Gstm7	UTSW	3	107,838,757 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGCAGAGATTGGATGACC -3'
(R):5'- ACAGGCATCTTCGCATAGGC -3'

Sequencing Primer
(F):5'- TGGATGACCAAAAACGAGAGCC -3'
(R):5'- ATCTTCGCATAGGCCACCGAG -3'

Posted On

2014-09-18