Incidental Mutation 'R7968:Gstm4'
ID 650452
Institutional Source Beutler Lab
Gene Symbol Gstm4
Ensembl Gene ENSMUSG00000027890
Gene Name glutathione S-transferase, mu 4
Synonyms Gstb-4, Gstb4, 1110004G14Rik
MMRRC Submission 046011-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7968 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 107947724-107952210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107951677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 35 (M35K)
Ref Sequence ENSEMBL: ENSMUSP00000029489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029489] [ENSMUST00000106670] [ENSMUST00000178808]
AlphaFold Q8R5I6
Predicted Effect probably damaging
Transcript: ENSMUST00000029489
AA Change: M35K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029489
Gene: ENSMUSG00000027890
AA Change: M35K

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000106670
AA Change: M1K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102281
Gene: ENSMUSG00000027890
AA Change: M1K

DomainStartEndE-ValueType
Pfam:GST_N 1 48 7e-12 PFAM
Pfam:GST_C 70 158 1.3e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178808
AA Change: M1K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136643
Gene: ENSMUSG00000027890
AA Change: M1K

DomainStartEndE-ValueType
Pfam:GST_N 1 48 7e-12 PFAM
Pfam:GST_C 70 158 1.3e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,441 (GRCm39) T35A Het
Adamts16 A C 13: 70,886,701 (GRCm39) S1030A probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Aff4 C T 11: 53,300,175 (GRCm39) T1026I probably damaging Het
Arfgef1 T C 1: 10,243,145 (GRCm39) Y1065C probably damaging Het
Arhgef3 G T 14: 27,108,070 (GRCm39) D192Y probably damaging Het
Arhgef3 G A 14: 27,116,062 (GRCm39) R268Q probably damaging Het
Atp6v0e T A 17: 26,913,885 (GRCm39) probably null Het
B3galt9 A G 2: 34,728,257 (GRCm39) N19D probably damaging Het
Cenpc1 A G 5: 86,181,551 (GRCm39) Y605H probably benign Het
Cftr T C 6: 18,226,048 (GRCm39) V332A probably benign Het
Csmd2 A G 4: 128,091,118 (GRCm39) H219R Het
Csnk1g3 C T 18: 54,028,726 (GRCm39) probably benign Het
Cyp4f17 T C 17: 32,743,116 (GRCm39) V263A possibly damaging Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Entrep1 G T 19: 23,962,091 (GRCm39) T304K probably damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Kcna2 A G 3: 107,012,460 (GRCm39) Y347C possibly damaging Het
Kcnh7 G A 2: 62,566,444 (GRCm39) T829M probably damaging Het
Kcnu1 T C 8: 26,400,898 (GRCm39) V682A probably benign Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Kera A G 10: 97,444,821 (GRCm39) E60G possibly damaging Het
Letm2 C T 8: 26,083,766 (GRCm39) G155D probably damaging Het
Lrfn4 G A 19: 4,663,343 (GRCm39) A397V probably benign Het
Lrp4 A G 2: 91,324,424 (GRCm39) Q1253R possibly damaging Het
Mob1a T A 6: 83,315,287 (GRCm39) M145K probably benign Het
Nab1 A G 1: 52,529,295 (GRCm39) C201R probably damaging Het
Nlrp9b A G 7: 19,762,493 (GRCm39) E710G probably benign Het
Oas2 A G 5: 120,876,437 (GRCm39) V502A probably benign Het
Or1e26 T C 11: 73,480,154 (GRCm39) S137G probably benign Het
Or52d3 T A 7: 104,229,595 (GRCm39) C247* probably null Het
Or52h7 A T 7: 104,213,857 (GRCm39) H143L probably benign Het
Parg A T 14: 31,936,327 (GRCm39) H494L possibly damaging Het
Phf20 T A 2: 156,135,464 (GRCm39) D600E probably benign Het
Ppef2 G A 5: 92,397,022 (GRCm39) R118C probably damaging Het
Ptprz1 T A 6: 22,959,675 (GRCm39) N57K probably damaging Het
Rrbp1 A T 2: 143,832,081 (GRCm39) S29T probably damaging Het
Sema3g C A 14: 30,942,605 (GRCm39) R69S probably damaging Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Slc4a3 A G 1: 75,528,007 (GRCm39) T419A probably benign Het
Smc3 T C 19: 53,611,649 (GRCm39) probably null Het
Sntg1 C T 1: 8,535,760 (GRCm39) W288* probably null Het
Synpo2l G T 14: 20,716,870 (GRCm39) probably null Het
Tap1 A G 17: 34,413,886 (GRCm39) I634V probably damaging Het
Tmem25 A G 9: 44,706,983 (GRCm39) S278P probably benign Het
Togaram2 T C 17: 72,024,428 (GRCm39) S871P probably benign Het
Trim37 T C 11: 87,040,179 (GRCm39) V225A possibly damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Other mutations in Gstm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03032:Gstm4 APN 3 107,951,263 (GRCm39) missense probably damaging 0.99
R0533:Gstm4 UTSW 3 107,950,841 (GRCm39) missense probably benign 0.02
R1799:Gstm4 UTSW 3 107,950,874 (GRCm39) missense probably damaging 1.00
R1907:Gstm4 UTSW 3 107,948,593 (GRCm39) missense probably benign 0.00
R4413:Gstm4 UTSW 3 107,950,644 (GRCm39) missense possibly damaging 0.92
R4451:Gstm4 UTSW 3 107,951,291 (GRCm39) splice site probably null
R6009:Gstm4 UTSW 3 107,950,659 (GRCm39) missense possibly damaging 0.76
R6992:Gstm4 UTSW 3 107,951,981 (GRCm39) missense possibly damaging 0.58
R7347:Gstm4 UTSW 3 107,949,689 (GRCm39) missense probably benign 0.25
R7909:Gstm4 UTSW 3 107,950,732 (GRCm39) missense probably benign 0.12
R7922:Gstm4 UTSW 3 107,951,987 (GRCm39) start codon destroyed probably null 1.00
R8256:Gstm4 UTSW 3 107,951,667 (GRCm39) critical splice donor site probably null
R9186:Gstm4 UTSW 3 107,952,049 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TTCAACAGGAGGGGTATCCACC -3'
(R):5'- AGGAATCCCTTGCTTGTCTG -3'

Sequencing Primer
(F):5'- ACCCCTTCACTTCCAGGAGG -3'
(R):5'- TCTGGCTCAGGGTCTTGCAC -3'
Posted On 2020-09-15