Incidental Mutation 'R0533:Gstm4'
ID 49305
Institutional Source Beutler Lab
Gene Symbol Gstm4
Ensembl Gene ENSMUSG00000027890
Gene Name glutathione S-transferase, mu 4
Synonyms 1110004G14Rik, Gstb4, Gstb-4
MMRRC Submission 038725-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0533 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 108040408-108044894 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108043525 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 51 (N51S)
Ref Sequence ENSEMBL: ENSMUSP00000136643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029489] [ENSMUST00000106670] [ENSMUST00000178808]
AlphaFold Q8R5I6
Predicted Effect probably benign
Transcript: ENSMUST00000029489
AA Change: N85S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029489
Gene: ENSMUSG00000027890
AA Change: N85S

Pfam:GST_N 3 82 1.9e-25 PFAM
Pfam:GST_N_3 13 93 1.4e-7 PFAM
Pfam:GST_C_3 42 190 7.2e-10 PFAM
Pfam:GST_C 104 192 1.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106670
AA Change: N51S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102281
Gene: ENSMUSG00000027890
AA Change: N51S

Pfam:GST_N 1 48 7e-12 PFAM
Pfam:GST_C 70 158 1.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178808
AA Change: N51S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136643
Gene: ENSMUSG00000027890
AA Change: N51S

Pfam:GST_N 1 48 7e-12 PFAM
Pfam:GST_C 70 158 1.3e-17 PFAM
Meta Mutation Damage Score 0.1107 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 100% (57/57)
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. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T G 8: 60,531,763 probably benign Het
Abcb1b A T 5: 8,864,113 probably null Het
Adcy10 A G 1: 165,564,023 N1283S probably benign Het
Adgrb1 T A 15: 74,541,559 W531R probably damaging Het
Ago4 A G 4: 126,516,860 V246A probably benign Het
Arid5b A T 10: 68,186,033 D242E probably damaging Het
Arpp21 A G 9: 112,126,505 V522A probably benign Het
Atg4b T A 1: 93,784,910 probably benign Het
Capn12 T C 7: 28,887,683 F359S possibly damaging Het
Ccdc88c A T 12: 100,954,282 I360N probably damaging Het
Clic3 A G 2: 25,458,138 Y99C probably damaging Het
Cux1 T C 5: 136,307,859 E925G probably damaging Het
Dnah10 G A 5: 124,775,250 probably null Het
Dnah17 A G 11: 118,110,537 V860A possibly damaging Het
Etv5 C T 16: 22,436,075 probably benign Het
Fam83a T A 15: 58,009,811 N345K probably benign Het
G3bp1 T C 11: 55,498,626 F383L probably damaging Het
Gm13089 G T 4: 143,698,020 C284* probably null Het
Gpm6a A G 8: 55,055,374 probably null Het
Grid1 T A 14: 35,309,385 Y312N possibly damaging Het
Hid1 A T 11: 115,348,809 I765N probably damaging Het
Hmmr A G 11: 40,709,989 V518A unknown Het
Itgb6 A G 2: 60,669,197 V84A probably benign Het
Kbtbd4 A G 2: 90,907,604 K233E probably benign Het
Kif15 A T 9: 123,009,433 probably benign Het
Klre1 T C 6: 129,583,193 S143P probably damaging Het
Krt81 T C 15: 101,461,389 D216G probably benign Het
Mctp2 G T 7: 72,080,822 H868Q probably benign Het
Morc2b G C 17: 33,135,932 Y955* probably null Het
Myog A C 1: 134,290,473 N140H possibly damaging Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Naip2 A C 13: 100,161,782 I582S probably benign Het
Neil3 A T 8: 53,638,775 probably null Het
Nrg1 T C 8: 31,831,245 probably null Het
Olfr681 G A 7: 105,122,350 V298I probably benign Het
Olfr689 A T 7: 105,314,372 M123L probably benign Het
Olfr99 A T 17: 37,280,291 L43* probably null Het
Pramef25 A T 4: 143,950,720 D96E possibly damaging Het
Ptger2 T A 14: 44,988,982 N6K possibly damaging Het
Ryr1 T A 7: 29,078,780 E2097V probably damaging Het
Sel1l A T 12: 91,820,094 F397Y probably damaging Het
Skint5 A G 4: 113,827,867 V551A unknown Het
Slc39a12 A G 2: 14,400,331 T245A probably benign Het
Syne1 C T 10: 5,358,438 V706I probably benign Het
Tbc1d8 G T 1: 39,372,774 Q994K possibly damaging Het
Tnrc6b C T 15: 80,876,653 T187I probably benign Het
Ttll6 G A 11: 96,154,756 A600T probably benign Het
Ust T C 10: 8,248,080 probably benign Het
Vmn2r71 GT GTT 7: 85,619,218 probably null Het
Vstm2a C T 11: 16,263,041 A142V probably damaging Het
Wfs1 T A 5: 36,973,722 probably benign Het
Wrap73 G A 4: 154,151,649 G145D probably damaging Het
Wrap73 G A 4: 154,156,154 V368M possibly damaging Het
Xrra1 T A 7: 99,875,145 probably null Het
Zfhx2 C T 14: 55,064,090 V2146I probably benign Het
Zfp335 A T 2: 164,907,922 L185* probably null Het
Other mutations in Gstm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03032:Gstm4 APN 3 108043947 missense probably damaging 0.99
R1799:Gstm4 UTSW 3 108043558 missense probably damaging 1.00
R1907:Gstm4 UTSW 3 108041277 missense probably benign 0.00
R4413:Gstm4 UTSW 3 108043328 missense possibly damaging 0.92
R4451:Gstm4 UTSW 3 108043975 splice site probably null
R6009:Gstm4 UTSW 3 108043343 missense possibly damaging 0.76
R6992:Gstm4 UTSW 3 108044665 missense possibly damaging 0.58
R7347:Gstm4 UTSW 3 108042373 missense probably benign 0.25
R7909:Gstm4 UTSW 3 108043416 missense probably benign 0.12
R7922:Gstm4 UTSW 3 108044671 start codon destroyed probably null 1.00
R7968:Gstm4 UTSW 3 108044361 missense probably damaging 0.96
R8256:Gstm4 UTSW 3 108044351 critical splice donor site probably null
R9186:Gstm4 UTSW 3 108044733 intron probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-12