Mutagenetix > Incidental Mutation

Incidental Mutation 'R5689:Gstm5'

443554

Institutional Source

Beutler Lab

Gene Symbol

Gstm5

Ensembl Gene

ENSMUSG00000004032

Gene Name

glutathione S-transferase, mu 5

Synonyms

MMRRC Submission

043322-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5689 (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 107803981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 54 (F54S)

Ref Sequence

ENSEMBL: ENSMUSP00000004134 (fasta)

Gene Model

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

AlphaFold

P48774

Predicted Effect

probably damaging
Transcript: ENSMUST00000004134
AA Change: F54S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004134
Gene: ENSMUSG00000004032
AA Change: F54S

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

possibly damaging
Transcript: ENSMUST00000172247
AA Change: F54S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129426
Gene: ENSMUSG00000004032
AA Change: F54S

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

possibly damaging
Transcript: ENSMUST00000167523
AA Change: F54S

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127840
Gene: ENSMUSG00000004032
AA Change: F54S

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: ENSMUST00000163675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138472

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: 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

Meta Mutation Damage Score

0.1101

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (63/66)

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. 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,051,412 (GRCm39)	C844F	probably benign	Het
Afdn	T	C	17: 14,075,621 (GRCm39)	V945A	probably damaging	Het
Aimp2	T	C	5: 143,843,389 (GRCm39)	D67G	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp11b	G	T	3: 35,888,501 (GRCm39)	V924F	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Cfb	T	A	17: 35,080,770 (GRCm39)	T76S	probably benign	Het
Cmpk2	A	T	12: 26,519,766 (GRCm39)	H139L	probably benign	Het
Cypt4	T	C	9: 24,536,542 (GRCm39)	S11P	possibly damaging	Het
Dbx1	A	G	7: 49,282,519 (GRCm39)	F229L	probably damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dnah7a	A	G	1: 53,444,857 (GRCm39)	V3949A	possibly damaging	Het
Dnajc25	A	G	4: 59,017,716 (GRCm39)	E6G	probably damaging	Het
Dync2h1	C	A	9: 7,169,689 (GRCm39)	V263F	probably damaging	Het
Eno4	T	A	19: 58,959,088 (GRCm39)	D403E	probably benign	Het
Evi5l	C	T	8: 4,255,460 (GRCm39)	Q542*	probably null	Het
Fam135a	A	G	1: 24,068,134 (GRCm39)	S12P	probably benign	Het
Flnc	G	A	6: 29,441,591 (GRCm39)	A458T	probably benign	Het
Fnip1	T	C	11: 54,393,115 (GRCm39)	V517A	probably damaging	Het
Galc	G	T	12: 98,179,245 (GRCm39)	H361N	possibly damaging	Het
Gask1a	T	C	9: 121,794,754 (GRCm39)	F303L	probably damaging	Het
Gcnt1	T	A	19: 17,306,768 (GRCm39)	D319V	probably damaging	Het
Gm26996	T	C	6: 130,555,258 (GRCm39)		noncoding transcript	Het
Gm5321	A	T	7: 6,022,268 (GRCm39)		noncoding transcript	Het
Grin3b	T	C	10: 79,810,465 (GRCm39)	L657P	probably damaging	Het
Ilk	C	A	7: 105,390,857 (GRCm39)	L267I	probably benign	Het
Lifr	A	G	15: 7,214,285 (GRCm39)	Y713C	probably damaging	Het
Lnx2	A	T	5: 146,965,961 (GRCm39)	V386E	probably damaging	Het
Lrch1	T	C	14: 75,023,764 (GRCm39)	E587G	probably damaging	Het
Or10g3	C	T	14: 52,610,214 (GRCm39)	V99M	possibly damaging	Het
Osgin1	A	G	8: 120,171,728 (GRCm39)	*173W	probably null	Het
Pcdhga7	C	A	18: 37,849,736 (GRCm39)	P581H	probably damaging	Het
Pde4dip	A	T	3: 97,599,683 (GRCm39)	L2384*	probably null	Het
Phf12	T	A	11: 77,914,551 (GRCm39)	N115K	probably damaging	Het
Pmel	A	G	10: 128,552,170 (GRCm39)	T335A	probably damaging	Het
Polr3e	C	A	7: 120,539,912 (GRCm39)	T579K	possibly damaging	Het
Ptprc	A	G	1: 138,045,515 (GRCm39)	V164A	probably benign	Het
Rapsn	T	C	2: 90,866,269 (GRCm39)	F43S	probably damaging	Het
Rarb	T	A	14: 16,434,177 (GRCm38)	I334F	probably damaging	Het
Rev3l	T	C	10: 39,670,954 (GRCm39)	Y167H	probably damaging	Het
Rnf146	T	C	10: 29,223,800 (GRCm39)	T29A	probably benign	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc5a10	C	T	11: 61,598,710 (GRCm39)	M223I	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Slitrk6	C	T	14: 110,989,558 (GRCm39)	E50K	probably benign	Het
Smg8	A	G	11: 86,975,949 (GRCm39)	F544S	probably damaging	Het
Tnpo3	T	C	6: 29,571,063 (GRCm39)	M444V	possibly damaging	Het
Trav7d-4	G	A	14: 53,007,651 (GRCm39)	R48H	probably damaging	Het
Trim50	A	T	5: 135,382,516 (GRCm39)	T123S	probably damaging	Het
Trpc4ap	C	G	2: 155,512,955 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,618,620 (GRCm39)	R14475S	probably damaging	Het
Uts2	A	T	4: 151,083,565 (GRCm39)	T59S	possibly damaging	Het
Vmn1r52	T	C	6: 90,156,232 (GRCm39)	S179P	possibly damaging	Het
Vmn2r116	A	G	17: 23,616,693 (GRCm39)	H537R	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Zfhx2	T	C	14: 55,311,360 (GRCm39)	T445A	possibly damaging	Het
Zfp638	T	C	6: 83,906,054 (GRCm39)	V73A	probably 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
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
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'- GAGTTATCTCTTGCTGTTCAGGCC -3'
(R):5'- TTAACAACCAGGACACATGAGG -3'

Sequencing Primer
(F):5'- GTTCAGGCCCATCTTTGCAGAAAC -3'
(R):5'- TGATAAAGTCACAGACCTGGCTATC -3'

Posted On

2016-11-09