Mutagenetix > Incidental Mutation

Incidental Mutation 'R3836:Gstm5'

275625

Institutional Source

Beutler Lab

Gene Symbol

Gstm5

Ensembl Gene

ENSMUSG00000004032

Gene Name

glutathione S-transferase, mu 5

Synonyms

MMRRC Submission

040891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107803240-107806002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107803678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 37 (I37T)

Ref Sequence

ENSEMBL: ENSMUSP00000129426 (fasta)

Gene Model

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

AlphaFold

P48774

Predicted Effect

probably benign
Transcript: ENSMUST00000004134
AA Change: I37T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004134
Gene: ENSMUSG00000004032
AA Change: I37T

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: ENSMUST00000172247
AA Change: I37T

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

SMART Domains

Protein: ENSMUSP00000129426
Gene: ENSMUSG00000004032
AA Change: I37T

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
AA Change: I37T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127840
Gene: ENSMUSG00000004032
AA Change: I37T

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

Predicted Effect

unknown
Transcript: ENSMUST00000170058
AA Change: I37T

SMART Domains

Protein: ENSMUSP00000125913
Gene: ENSMUSG00000004032
AA Change: I37T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144591

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Aasdh	A	G	5: 77,026,315 (GRCm39)	V903A	probably benign	Het
Afg2a	T	A	3: 37,487,792 (GRCm39)	Y428N	possibly damaging	Het
Ankrd6	T	A	4: 32,817,531 (GRCm39)	D271V	probably damaging	Het
Ano10	C	T	9: 122,092,829 (GRCm39)	V167M	possibly damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Bub1	G	T	2: 127,656,806 (GRCm39)	P442Q	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crym	A	G	7: 119,800,439 (GRCm39)	V61A	probably benign	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Dtna	A	T	18: 23,758,159 (GRCm39)	Q488L	probably damaging	Het
Ecel1	A	C	1: 87,078,378 (GRCm39)	L565R	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fnbp4	A	G	2: 90,577,129 (GRCm39)	T154A	probably damaging	Het
Fsip2	T	C	2: 82,781,290 (GRCm39)	L32P	probably damaging	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Gm12695	T	G	4: 96,650,334 (GRCm39)	T171P	probably damaging	Het
Gm4868	A	C	5: 125,925,014 (GRCm39)		noncoding transcript	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga11	G	T	9: 62,676,565 (GRCm39)	V918L	probably benign	Het
Itgb2l	T	A	16: 96,227,367 (GRCm39)	M559L	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Madd	A	T	2: 90,984,988 (GRCm39)		probably null	Het
Map3k11	A	G	19: 5,740,831 (GRCm39)	E186G	possibly damaging	Het
Mbl2	T	C	19: 30,216,914 (GRCm39)	F242S	probably damaging	Het
Mcph1	A	G	8: 18,672,675 (GRCm39)	T102A	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mkln1	A	G	6: 31,445,271 (GRCm39)	D389G	probably damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Myd88	A	G	9: 119,167,259 (GRCm39)		probably benign	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nprl3	C	T	11: 32,183,082 (GRCm39)	E502K	probably damaging	Het
Nudt5	T	A	2: 5,871,158 (GRCm39)		probably null	Het
Or52b2	G	A	7: 104,986,417 (GRCm39)	P169S	probably benign	Het
Or5h23	A	G	16: 58,906,586 (GRCm39)	S87P	possibly damaging	Het
Or6c69b	C	T	10: 129,627,039 (GRCm39)	V140M	probably benign	Het
Or8j3	A	G	2: 86,029,006 (GRCm39)	V30A	probably benign	Het
Plaa	T	C	4: 94,475,159 (GRCm39)		probably null	Het
Ptk2b	A	G	14: 66,393,791 (GRCm39)	L894P	probably damaging	Het
Rab8b	A	G	9: 66,755,078 (GRCm39)	S183P	probably benign	Het
Reln	A	G	5: 22,116,012 (GRCm39)	Y2999H	probably damaging	Het
Rims4	A	G	2: 163,760,573 (GRCm39)	S11P	possibly damaging	Het
Scel	A	G	14: 103,829,822 (GRCm39)	K448R	possibly damaging	Het
Serpinb10	A	T	1: 107,463,816 (GRCm39)	T33S	probably benign	Het
Sgip1	A	G	4: 102,724,897 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,807,176 (GRCm39)	M158K	probably damaging	Het
Tmem132d	A	T	5: 127,861,949 (GRCm39)	I724N	probably damaging	Het
Tnrc6c	A	G	11: 117,614,055 (GRCm39)	T738A	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Ubtfl1	A	T	9: 18,320,533 (GRCm39)	E20D	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r25	C	A	6: 123,830,044 (GRCm39)	D36Y	probably damaging	Het
Wdhd1	A	G	14: 47,482,511 (GRCm39)	V946A	probably benign	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Zmynd8	G	A	2: 165,700,019 (GRCm39)	T14I	probably benign	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
R4600:Gstm5	UTSW	3	107,805,302 (GRCm39)	missense	probably damaging	1.00
R5097:Gstm5	UTSW	3	107,803,258 (GRCm39)	start gained	probably benign
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'- TAAGGTACTGGAAGTTCCCGGG -3'
(R):5'- GTTTCTGCAAAGATGGGCC -3'

Sequencing Primer
(F):5'- GGCTGCCTAAGGACAATTTCC -3'
(R):5'- TTTCTGCAAAGATGGGCCTGAAC -3'

Posted On

2015-04-06