Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Gstm1'

557853

Institutional Source

Beutler Lab

Gene Symbol

Gstm1

Ensembl Gene

ENSMUSG00000058135

Gene Name

glutathione S-transferase, mu 1

Synonyms

Gstb1, Gstb-1

MMRRC Submission

045262-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107919571-107925289 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107923693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 104 (V104A)

Ref Sequence

ENSEMBL: ENSMUSP00000004140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004140] [ENSMUST00000126593] [ENSMUST00000153314]

AlphaFold

P10649

Predicted Effect

probably benign
Transcript: ENSMUST00000004140
AA Change: V104A

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

SMART Domains

Protein: ENSMUSP00000004140
Gene: ENSMUSG00000058135
AA Change: V104A

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	1.3e-20	PFAM
Pfam:GST_C_3	40	190	5.2e-11	PFAM
Pfam:GST_C	104	192	3.7e-18	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118874
Gene: ENSMUSG00000058135
AA Change: V104A

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	8.3e-24	PFAM
Pfam:GST_C	104	201	6.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153314
AA Change: V45A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123481
Gene: ENSMUSG00000058135
AA Change: V45A

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	23	1.7e-7	PFAM
Pfam:GST_C	45	168	1.2e-18	PFAM
Pfam:GST_C_3	92	166	8.3e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

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. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for the deletion of this gene display a reduced ability to metabolize 1,2-dichloro-4-nitrobenzene. Mice homozygous for a different knock-out allele exhibit abnormal behavior, altered response to valproic acid, and increased serotonin and dopamine levels in the cerebellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 127,965,028 (GRCm39)	A624E	probably benign	Het
Adnp	A	G	2: 168,024,287 (GRCm39)	S1003P	probably benign	Het
Akap8l	T	C	17: 32,557,386 (GRCm39)	D75G	probably damaging	Het
Ap4e1	A	T	2: 126,905,238 (GRCm39)	T970S	possibly damaging	Het
Asb3	T	A	11: 30,979,029 (GRCm39)	N106K	probably damaging	Het
Atp1a3	T	C	7: 24,678,390 (GRCm39)	I988V	probably benign	Het
Camta1	A	G	4: 151,169,157 (GRCm39)	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,327,193 (GRCm39)	L84P	probably damaging	Het
Ccne1	C	T	7: 37,798,726 (GRCm39)	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,287,951 (GRCm39)	E532V	probably damaging	Het
Clasp2	G	A	9: 113,615,467 (GRCm39)		probably null	Het
Cntnap5b	C	A	1: 100,003,887 (GRCm39)	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,648,538 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,100 (GRCm39)	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,616,516 (GRCm39)	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479 (GRCm39)	A3190V	probably benign	Het
Frrs1	T	A	3: 116,671,920 (GRCm39)	I6N	probably benign	Het
Fscn1	T	C	5: 142,957,801 (GRCm39)	V477A	probably benign	Het
Fsip2	G	A	2: 82,811,541 (GRCm39)	G2620E	possibly damaging	Het
Glp1r	C	T	17: 31,128,297 (GRCm39)	A92V	probably benign	Het
Gpr137b	A	T	13: 13,542,205 (GRCm39)	M204K	probably damaging	Het
Gtf2e1	A	T	16: 37,356,228 (GRCm39)	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,245,536 (GRCm39)	F1168L	probably benign	Het
Itpr2	A	T	6: 146,195,589 (GRCm39)	V1629E	probably damaging	Het
Kat14	A	G	2: 144,235,918 (GRCm39)	T428A	probably benign	Het
Kif21b	T	C	1: 136,077,186 (GRCm39)	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,662,649 (GRCm39)	A533P	probably benign	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,408,398 (GRCm39)	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525 (GRCm39)	N7S	probably damaging	Het
Mrps27	A	T	13: 99,551,307 (GRCm39)	T357S	possibly damaging	Het
Muc21	A	G	17: 35,932,870 (GRCm39)	S439P	unknown	Het
Naa35	A	G	13: 59,733,997 (GRCm39)	D9G	probably benign	Het
Ncoa4	T	A	14: 31,897,940 (GRCm39)	N253K	probably damaging	Het
Neb	A	G	2: 52,160,318 (GRCm39)	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,481,793 (GRCm39)	Q223*	probably null	Het
Npas2	T	A	1: 39,331,798 (GRCm39)	I71N	possibly damaging	Het
Nup107	T	A	10: 117,609,267 (GRCm39)	Q364L	probably damaging	Het
Or8g17	T	A	9: 38,934,566 (GRCm39)		probably benign	Het
Otof	C	T	5: 30,532,964 (GRCm39)	G1593S	probably damaging	Het
Panx3	G	T	9: 37,575,381 (GRCm39)	H160Q	probably damaging	Het
Pappa	T	A	4: 65,180,110 (GRCm39)	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,136 (GRCm39)	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,638,123 (GRCm39)	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,896,231 (GRCm39)	S434T	possibly damaging	Het
Pf4	T	C	5: 90,920,448 (GRCm39)	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325 (GRCm39)	S229P	probably benign	Het
Plcd3	A	G	11: 102,970,439 (GRCm39)	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,575,104 (GRCm39)	H4R	probably damaging	Het
Pramel15	A	G	4: 144,099,389 (GRCm39)	C459R	probably damaging	Het
Prdm10	A	G	9: 31,227,738 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,667,474 (GRCm39)		probably null	Het
Prkg1	T	A	19: 30,562,599 (GRCm39)	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,501,086 (GRCm39)	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,132,391 (GRCm39)	E304G	probably benign	Het
Ralgps2	A	G	1: 156,655,818 (GRCm39)	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,168,885 (GRCm39)	T31I	probably benign	Het
Rbsn	A	T	6: 92,168,315 (GRCm39)	M373K	probably benign	Het
Rnf168	C	G	16: 32,101,179 (GRCm39)	R120G	probably benign	Het
Rp1	A	G	1: 4,420,140 (GRCm39)	I324T	probably damaging	Het
Samd11	T	C	4: 156,336,747 (GRCm39)	S31G	probably benign	Het
Sart3	A	T	5: 113,884,056 (GRCm39)	L652Q	probably benign	Het
Scrn2	A	G	11: 96,924,634 (GRCm39)	E421G	probably benign	Het
Sik2	A	T	9: 50,828,397 (GRCm39)	L215Q	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,534,639 (GRCm39)	K3632M	probably damaging	Het
Swt1	A	T	1: 151,264,428 (GRCm39)	D695E	probably damaging	Het
Tead3	T	A	17: 28,552,228 (GRCm39)	M357L	probably benign	Het
Tgfbi	A	T	13: 56,775,829 (GRCm39)	T292S	probably damaging	Het
Tmc7	T	C	7: 118,155,157 (GRCm39)	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549 (GRCm39)	D236E	probably damaging	Het
Tshz1	C	A	18: 84,034,052 (GRCm39)	V119L	probably damaging	Het
Ttn	A	C	2: 76,658,258 (GRCm39)	V12374G	unknown	Het
Tubgcp2	A	G	7: 139,585,274 (GRCm39)	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,177,824 (GRCm39)	A1947P		Het
Uggt1	A	C	1: 36,194,188 (GRCm39)	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,402,076 (GRCm39)	M104L	probably benign	Het
Xirp1	A	T	9: 119,848,113 (GRCm39)	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,327,179 (GRCm39)	S724P	probably damaging	Het
Zmpste24	A	T	4: 120,940,091 (GRCm39)	L185Q	probably null	Het
Zpld1	G	A	16: 55,052,594 (GRCm39)	A340V	probably benign	Het

Other mutations in Gstm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0335:Gstm1	UTSW	3	107,920,012 (GRCm39)	missense	possibly damaging	0.87
R0458:Gstm1	UTSW	3	107,924,679 (GRCm39)	missense	probably benign	0.01
R0907:Gstm1	UTSW	3	107,924,696 (GRCm39)	missense	probably damaging	1.00
R1069:Gstm1	UTSW	3	107,920,064 (GRCm39)	missense	probably damaging	1.00
R1180:Gstm1	UTSW	3	107,922,127 (GRCm39)	missense	probably damaging	1.00
R1181:Gstm1	UTSW	3	107,922,127 (GRCm39)	missense	probably damaging	1.00
R1998:Gstm1	UTSW	3	107,922,127 (GRCm39)	missense	probably damaging	1.00
R2000:Gstm1	UTSW	3	107,922,127 (GRCm39)	missense	probably damaging	1.00
R4483:Gstm1	UTSW	3	107,923,834 (GRCm39)	critical splice donor site	probably null
R4857:Gstm1	UTSW	3	107,923,724 (GRCm39)	missense	possibly damaging	0.67
R5192:Gstm1	UTSW	3	107,922,259 (GRCm39)	critical splice donor site	probably null
R5262:Gstm1	UTSW	3	107,923,679 (GRCm39)	missense	probably benign	0.01
R5356:Gstm1	UTSW	3	107,920,052 (GRCm39)	missense	probably benign	0.00
R5485:Gstm1	UTSW	3	107,924,720 (GRCm39)	missense	probably damaging	1.00
R6323:Gstm1	UTSW	3	107,925,063 (GRCm39)	missense	probably benign	0.44
R7250:Gstm1	UTSW	3	107,923,709 (GRCm39)	missense	probably damaging	0.98
R7638:Gstm1	UTSW	3	107,921,866 (GRCm39)	splice site	probably null
R9656:Gstm1	UTSW	3	107,925,072 (GRCm39)	missense	probably damaging	1.00
R9797:Gstm1	UTSW	3	107,925,080 (GRCm39)	missense	probably benign	0.10
X0023:Gstm1	UTSW	3	107,920,043 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTCATCCTGCTGGTAAGATC -3'
(R):5'- GCTGCCTTACTTGATCGATGG -3'

Sequencing Primer
(F):5'- TCATCCTGCTGGTAAGATCAGAAAGC -3'
(R):5'- AGAGCAATGCCATCCTGCG -3'

Posted On

2019-06-26