Incidental Mutation 'R0907:Gstm1'
ID 83349
Institutional Source Beutler Lab
Gene Symbol Gstm1
Ensembl Gene ENSMUSG00000058135
Gene Name glutathione S-transferase, mu 1
Synonyms Gstb1, Gstb-1
MMRRC Submission 039065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R0907 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107919571-107925289 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107924696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 28 (Y28C)
Ref Sequence ENSEMBL: ENSMUSP00000118874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004140] [ENSMUST00000126593] [ENSMUST00000153314]
AlphaFold P10649
Predicted Effect probably damaging
Transcript: ENSMUST00000004140
AA Change: Y28C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004140
Gene: ENSMUSG00000058135
AA Change: Y28C

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000120197
Predicted Effect probably damaging
Transcript: ENSMUST00000126593
AA Change: Y28C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118874
Gene: ENSMUSG00000058135
AA Change: Y28C

DomainStartEndE-ValueType
Pfam:GST_N 3 82 8.3e-24 PFAM
Pfam:GST_C 104 201 6.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138374
Predicted Effect probably benign
Transcript: ENSMUST00000153314
SMART Domains Protein: ENSMUSP00000123481
Gene: ENSMUSG00000058135

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198532
Meta Mutation Damage Score 0.9077 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (34/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 G A 1: 156,457,429 (GRCm39) V225M probably damaging Het
Afmid T A 11: 117,726,416 (GRCm39) probably benign Het
Ccdc191 G A 16: 43,735,901 (GRCm39) V216I probably benign Het
Cep112 C A 11: 108,461,258 (GRCm39) probably benign Het
Dcbld1 T C 10: 52,137,910 (GRCm39) V58A possibly damaging Het
Dop1b A T 16: 93,598,481 (GRCm39) H1882L probably damaging Het
Fat1 A G 8: 45,479,635 (GRCm39) I2894V probably benign Het
Focad T C 4: 88,196,498 (GRCm39) probably null Het
Gm45713 G A 7: 44,781,788 (GRCm39) T203M possibly damaging Het
Gucy1a1 T C 3: 82,018,498 (GRCm39) D113G probably benign Het
Hat1 G T 2: 71,250,961 (GRCm39) E170* probably null Het
Herc1 C A 9: 66,340,710 (GRCm39) F1686L possibly damaging Het
Iffo1 A G 6: 125,130,124 (GRCm39) E270G probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrp3 A T 7: 34,902,718 (GRCm39) Y522N probably damaging Het
Lrp6 A T 6: 134,484,488 (GRCm39) D378E probably damaging Het
Mmrn1 A G 6: 60,950,103 (GRCm39) N351S probably benign Het
Or1e16 A T 11: 73,285,945 (GRCm39) L301Q probably damaging Het
Or9q1 T C 19: 13,805,220 (GRCm39) D180G probably damaging Het
Pcnx3 T C 19: 5,721,553 (GRCm39) K1082E possibly damaging Het
Pikfyve T C 1: 65,241,989 (GRCm39) V243A possibly damaging Het
Qdpr G C 5: 45,596,728 (GRCm39) I145M probably benign Het
Rasgrp3 G T 17: 75,816,822 (GRCm39) probably null Het
Rd3l G T 12: 111,946,574 (GRCm39) Y1* probably null Het
Sf3b3 A G 8: 111,538,142 (GRCm39) probably benign Het
Smn1 C T 13: 100,264,404 (GRCm39) T45I probably damaging Het
Sprr3 A T 3: 92,364,316 (GRCm39) I176N probably benign Het
Sv2c T C 13: 96,224,763 (GRCm39) D182G probably damaging Het
Tnni3k A T 3: 154,647,316 (GRCm39) V397D probably damaging Het
Trpt1 G T 19: 6,976,308 (GRCm39) G235V possibly damaging Het
Ttll10 A T 4: 156,120,621 (GRCm39) C367* probably null Het
Unc5c A G 3: 141,494,794 (GRCm39) Q369R probably damaging Het
Other mutations in Gstm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGACCCAATAAGACCCCAGTAGTG -3'
(R):5'- TAAGAGCAGGAGCCCTTCCTACAG -3'

Sequencing Primer
(F):5'- GACCCCAGTAGTGAATTCTGTCG -3'
(R):5'- ACTTGGGTGGCtgtgtgtg -3'
Posted On 2013-11-08