Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Gstm1'

628239

Institutional Source

Beutler Lab

Gene Symbol

Gstm1

Ensembl Gene

ENSMUSG00000058135

Gene Name

glutathione S-transferase, mu 1

Synonyms

Gstb1, Gstb-1

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

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

Stock #

R7638 (G1)

Quality Score

140.008

Status

Validated

Chromosome

Chromosomal Location

107919571-107925289 bp(-) (GRCm39)

Type of Mutation

splice site (203 bp from exon)

DNA Base Change (assembly)

C to T at 107921866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123481 (fasta)

Gene Model

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

AlphaFold

P10649

Predicted Effect

probably null
Transcript: ENSMUST00000004140

SMART Domains

Protein: ENSMUSP00000004140
Gene: ENSMUSG00000058135

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

probably null
Transcript: ENSMUST00000126593

SMART Domains

Protein: ENSMUSP00000118874
Gene: ENSMUSG00000058135

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 null
Transcript: ENSMUST00000153314

SMART Domains

Protein: ENSMUSP00000123481
Gene: ENSMUSG00000058135

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	T	G	2: 26,733,855 (GRCm39)	T115P	probably damaging	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Amdhd1	A	T	10: 93,370,360 (GRCm39)	Y159*	probably null	Het
Camp	T	C	9: 109,677,461 (GRCm39)	E124G		Het
Casq2	A	G	3: 101,994,016 (GRCm39)	E21G	possibly damaging	Het
Cbln1	A	T	8: 88,198,357 (GRCm39)	F116Y	probably damaging	Het
Cklf	A	T	8: 104,989,996 (GRCm39)	K143*	probably null	Het
Clca3a1	A	G	3: 144,457,723 (GRCm39)	I387T	probably damaging	Het
Cndp1	T	A	18: 84,654,174 (GRCm39)	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,184,670 (GRCm39)	M317K	possibly damaging	Het
Dmxl2	A	T	9: 54,365,078 (GRCm39)	I138K	unknown	Het
Eapp	A	G	12: 54,720,508 (GRCm39)	S236P	probably benign	Het
Efcab3	T	A	11: 104,927,625 (GRCm39)	M4798K	probably benign	Het
Efnb3	T	C	11: 69,448,046 (GRCm39)	H132R	possibly damaging	Het
Fam243	A	G	16: 92,117,805 (GRCm39)	V161A	probably damaging	Het
Fbn2	A	T	18: 58,238,208 (GRCm39)	N596K	probably damaging	Het
Fzd9	A	G	5: 135,279,484 (GRCm39)	W134R	probably damaging	Het
Gga2	A	G	7: 121,603,157 (GRCm39)	S180P	probably damaging	Het
Golga3	A	G	5: 110,353,694 (GRCm39)	T911A	probably benign	Het
Heg1	A	G	16: 33,547,867 (GRCm39)	T909A	probably damaging	Het
Herc2	T	C	7: 55,807,186 (GRCm39)	S2455P	probably benign	Het
Herc2	C	T	7: 55,870,273 (GRCm39)	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,019,595 (GRCm39)	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,564,707 (GRCm39)		probably null	Het
Kbtbd13	G	T	9: 65,298,605 (GRCm39)	C110*	probably null	Het
Krt78	T	C	15: 101,859,318 (GRCm39)	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,288,995 (GRCm39)	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,307,352 (GRCm39)		probably null	Het
Lrrc14	A	G	15: 76,598,173 (GRCm39)	D301G	probably benign	Het
Lrrc71	C	A	3: 87,649,113 (GRCm39)	G352W	probably damaging	Het
Map3k9	A	G	12: 81,771,506 (GRCm39)	V694A	probably benign	Het
Mboat2	T	C	12: 24,989,325 (GRCm39)	S162P	probably damaging	Het
Megf11	C	A	9: 64,586,535 (GRCm39)	N422K	probably damaging	Het
Miga1	C	T	3: 151,982,324 (GRCm39)	S584N	probably benign	Het
Mindy2	A	G	9: 70,524,141 (GRCm39)	Y403H	probably damaging	Het
Mmd	C	T	11: 90,167,583 (GRCm39)	A204V	possibly damaging	Het
Mta3	A	T	17: 84,107,572 (GRCm39)	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,598,794 (GRCm39)	S43F	probably benign	Het
Nhsl3	T	C	4: 129,115,734 (GRCm39)	T1022A	probably benign	Het
Nphp4	T	C	4: 152,638,991 (GRCm39)	V874A	probably benign	Het
Nsd1	A	G	13: 55,460,141 (GRCm39)	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,190,792 (GRCm39)	H302R	probably benign	Het
Odc1	A	G	12: 17,600,003 (GRCm39)	Y389C	probably damaging	Het
Or52p2	A	G	7: 102,237,125 (GRCm39)	I275T	probably damaging	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Or8g37	T	G	9: 39,731,189 (GRCm39)	F85V	probably damaging	Het
Pcare	T	C	17: 72,057,880 (GRCm39)	D599G	probably damaging	Het
Pcdhb10	A	C	18: 37,545,365 (GRCm39)	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,465,675 (GRCm39)	C182G	probably damaging	Het
Pigv	T	C	4: 133,392,762 (GRCm39)	D136G	possibly damaging	Het
Polr1h	A	C	17: 37,268,722 (GRCm39)		probably null	Het
Pramel5	T	C	4: 143,998,010 (GRCm39)	E411G	possibly damaging	Het
Prkce	T	C	17: 86,476,028 (GRCm39)	V3A	probably benign	Het
Pth1r	T	C	9: 110,551,461 (GRCm39)	N546S	probably benign	Het
Qrich2	C	T	11: 116,346,148 (GRCm39)	V1559I	probably benign	Het
Rbm20	A	C	19: 53,802,764 (GRCm39)	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,388,284 (GRCm39)	D393N	probably damaging	Het
Sf3b3	G	A	8: 111,547,445 (GRCm39)	R728C	probably damaging	Het
Spata31e1	G	T	13: 49,940,451 (GRCm39)	Q420K	probably benign	Het
Srcap	A	G	7: 127,137,920 (GRCm39)	N1090S	probably benign	Het
Syt4	A	T	18: 31,576,875 (GRCm39)	S160T	probably benign	Het
Tcstv6	A	T	13: 120,304,224 (GRCm39)		probably null	Het
Tfap2e	C	T	4: 126,615,727 (GRCm39)	V236M	probably damaging	Het
Thsd4	G	A	9: 60,301,755 (GRCm39)	T180M	probably damaging	Het
Tlr4	T	A	4: 66,758,443 (GRCm39)	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883 (GRCm39)	H136L	probably benign	Het
Tnpo2	T	A	8: 85,771,044 (GRCm39)	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,270,870 (GRCm39)	M111V	probably benign	Het
Tubb3	A	T	8: 124,147,900 (GRCm39)	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299 (GRCm39)	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,067,706 (GRCm39)	S334P	probably damaging	Het
Vps13c	A	G	9: 67,852,791 (GRCm39)	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,454,172 (GRCm39)	Y125H	probably benign	Het
Zfp747	A	T	7: 126,973,819 (GRCm39)	M117K	probably benign	Het
Zscan4c	A	T	7: 10,743,658 (GRCm39)	N419I	possibly damaging	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
R7165:Gstm1	UTSW	3	107,923,693 (GRCm39)	missense	probably benign
R7250:Gstm1	UTSW	3	107,923,709 (GRCm39)	missense	probably damaging	0.98
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'- CTCTCAGCACTCAAGTCTGG -3'
(R):5'- TTTCTCGGGTCCATGATGC -3'

Sequencing Primer
(F):5'- GGCTATGTTACATTAGCTCTGC -3'
(R):5'- ATGATGCTTTCTAGTCCCAAGAC -3'

Posted On

2020-02-13