Mutagenetix > Incidental Mutation

Incidental Mutation 'R5097:Gstm5'

388067

Institutional Source

Beutler Lab

Gene Symbol

Gstm5

Ensembl Gene

ENSMUSG00000004032

Gene Name

glutathione S-transferase, mu 5

Synonyms

MMRRC Submission

042686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5097 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

107803240-107806002 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 107803258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004134] [ENSMUST00000037375] [ENSMUST00000170058] [ENSMUST00000172247] [ENSMUST00000167523] [ENSMUST00000167387] [ENSMUST00000169365]

AlphaFold

P48774

Predicted Effect

probably benign
Transcript: ENSMUST00000004134

SMART Domains

Protein: ENSMUSP00000004134
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	85	4e-23	PFAM
Pfam:GST_C	107	195	1.5e-19	PFAM
Pfam:GST_C_3	113	193	2.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037375

SMART Domains

Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600

Domain	Start	End	E-Value	Type
Pfam:PTB	28	155	3.7e-40	PFAM
low complexity region	204	214	N/A	INTRINSIC
low complexity region	230	247	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
SH3	460	515	5.19e-15	SMART
PDB:2E8M\|A	516	582	3e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137970

Predicted Effect

probably benign
Transcript: ENSMUST00000170058

SMART Domains

Protein: ENSMUSP00000125913
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	55	3.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172247

SMART Domains

Protein: ENSMUSP00000129426
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	85	2.1e-21	PFAM
Pfam:GST_C	107	193	2.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167523

SMART Domains

Protein: ENSMUSP00000127840
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_N	6	67	6.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146337

Predicted Effect

probably benign
Transcript: ENSMUST00000167387

SMART Domains

Protein: ENSMUSP00000127020
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_C	41	129	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169365

SMART Domains

Protein: ENSMUSP00000128306
Gene: ENSMUSG00000004032

Domain	Start	End	E-Value	Type
Pfam:GST_C	41	129	2.1e-19	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 89,840,909 (GRCm39)	V805F	probably damaging	Het
Adgrb3	G	A	1: 25,865,165 (GRCm39)	T226M	probably damaging	Het
Ak5	A	G	3: 152,187,270 (GRCm39)	S406P	probably damaging	Het
Akt3	C	G	1: 177,076,254 (GRCm39)	V12L	probably benign	Het
Arhgef40	A	C	14: 52,227,146 (GRCm39)	S397R	probably damaging	Het
Atp5f1c	A	G	2: 10,068,323 (GRCm39)	V144A	probably benign	Het
Ccser1	A	G	6: 61,289,144 (GRCm39)	S436G	probably benign	Het
Clgn	G	T	8: 84,137,152 (GRCm39)	V290F	possibly damaging	Het
Dis3l	T	A	9: 64,226,498 (GRCm39)	D261V	probably damaging	Het
Dnah11	T	A	12: 117,981,435 (GRCm39)	Y2577F	probably damaging	Het
Evi5l	A	G	8: 4,243,317 (GRCm39)	E371G	probably damaging	Het
Fat2	A	G	11: 55,201,530 (GRCm39)	S515P	probably damaging	Het
Fsip2	A	G	2: 82,822,329 (GRCm39)	I6021V	probably benign	Het
Ftdc1	A	C	16: 58,434,227 (GRCm39)	N163K	probably benign	Het
H2-Oa	G	A	17: 34,312,809 (GRCm39)	D29N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ireb2	A	G	9: 54,802,668 (GRCm39)	I434M	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Micall1	A	G	15: 79,014,078 (GRCm39)	T658A	probably benign	Het
Mitf	C	T	6: 97,973,423 (GRCm39)	A252V	possibly damaging	Het
Mpzl1	A	G	1: 165,433,285 (GRCm39)	I122T	probably damaging	Het
Mtus2	G	A	5: 148,232,392 (GRCm39)	V146I	probably damaging	Het
Myh11	C	T	16: 14,023,770 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,653,609 (GRCm39)	I486T	probably damaging	Het
N4bp2	T	C	5: 65,974,561 (GRCm39)	V1477A	probably damaging	Het
Ndc1	T	A	4: 107,231,358 (GRCm39)	S100T	probably benign	Het
Nek10	T	A	14: 14,857,851 (GRCm38)	N433K	probably benign	Het
Noc4l	C	T	5: 110,799,212 (GRCm39)	S190N	probably benign	Het
Nprl2	A	G	9: 107,420,731 (GRCm39)	E122G	probably damaging	Het
Or13a19	A	G	7: 139,903,008 (GRCm39)	Y132C	probably damaging	Het
Or1e16	G	C	11: 73,286,119 (GRCm39)	S243C	probably damaging	Het
Or6n2	C	T	1: 173,897,095 (GRCm39)	T77I	probably benign	Het
Osbpl1a	T	C	18: 12,896,594 (GRCm39)	I324V	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg3	C	T	7: 6,713,026 (GRCm39)	R732H	probably damaging	Het
Rfc4	A	G	16: 22,933,046 (GRCm39)	I297T	possibly damaging	Het
Rpl3l	T	A	17: 24,952,435 (GRCm39)	D218E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sesn2	C	T	4: 132,224,209 (GRCm39)	V400I	probably benign	Het
Syt11	C	T	3: 88,655,231 (GRCm39)	V51I	probably benign	Het
Tas2r115	A	C	6: 132,714,216 (GRCm39)	L245R	probably damaging	Het
Tmem115	G	A	9: 107,412,059 (GRCm39)	V128I	probably benign	Het
Trim47	A	G	11: 115,997,260 (GRCm39)	V499A	probably benign	Het
Trpm7	A	T	2: 126,638,256 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,687,998 (GRCm39)	D479G	probably damaging	Het
Zfp292	T	C	4: 34,839,878 (GRCm39)	T91A	possibly damaging	Het

Other mutations in Gstm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Gstm5	APN	3	107,804,874 (GRCm39)	missense	probably benign	0.11
IGL02219:Gstm5	APN	3	107,805,347 (GRCm39)	missense	probably damaging	1.00
R0685:Gstm5	UTSW	3	107,804,635 (GRCm39)	missense	probably damaging	1.00
R2364:Gstm5	UTSW	3	107,803,687 (GRCm39)	missense	probably benign	0.00
R3836:Gstm5	UTSW	3	107,803,678 (GRCm39)	missense	probably benign	0.00
R4600:Gstm5	UTSW	3	107,805,302 (GRCm39)	missense	probably damaging	1.00
R5369:Gstm5	UTSW	3	107,805,782 (GRCm39)	missense	probably damaging	1.00
R5415:Gstm5	UTSW	3	107,804,811 (GRCm39)	missense	probably damaging	1.00
R5689:Gstm5	UTSW	3	107,803,981 (GRCm39)	missense	probably damaging	0.97
R5832:Gstm5	UTSW	3	107,804,853 (GRCm39)	missense	probably benign	0.01
R5988:Gstm5	UTSW	3	107,803,270 (GRCm39)	start codon destroyed	probably benign
R7329:Gstm5	UTSW	3	107,803,647 (GRCm39)	missense	possibly damaging	0.69
R7546:Gstm5	UTSW	3	107,804,610 (GRCm39)	missense	probably damaging	1.00
R9222:Gstm5	UTSW	3	107,804,634 (GRCm39)	missense	probably benign	0.09
X0020:Gstm5	UTSW	3	107,803,282 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- AACAGCCCTGGGAGAAGTTC -3'
(R):5'- CGGGAACTTCCAGTACCTTATTCC -3'

Sequencing Primer
(F):5'- CTGGGAGAAGTTCACACCG -3'
(R):5'- AGTACCTTATTCCTCTACCCACAG -3'

Posted On

2016-06-06