Incidental Mutation 'R7052:Gstm7'
ID 547644
Institutional Source Beutler Lab
Gene Symbol Gstm7
Ensembl Gene ENSMUSG00000004035
Gene Name glutathione S-transferase, mu 7
Synonyms Cd203c, 0610005A07Rik
MMRRC Submission 045149-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R7052 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 107833650-107839133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107838633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 37 (D37V)
Ref Sequence ENSEMBL: ENSMUSP00000102298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004137] [ENSMUST00000106687] [ENSMUST00000106688] [ENSMUST00000124215] [ENSMUST00000133947]
AlphaFold Q80W21
Predicted Effect probably benign
Transcript: ENSMUST00000004137
AA Change: D37V

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004137
Gene: ENSMUSG00000004035
AA Change: D37V

DomainStartEndE-ValueType
Pfam:GST_N 3 82 2.2e-23 PFAM
Pfam:GST_C_3 42 190 1.2e-9 PFAM
Pfam:GST_C 104 191 5.3e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106687
AA Change: D37V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102298
Gene: ENSMUSG00000004035
AA Change: D37V

DomainStartEndE-ValueType
Pfam:GST_N 3 82 6.8e-24 PFAM
Pfam:GST_N_3 11 93 1.1e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106688
AA Change: D33V

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102299
Gene: ENSMUSG00000004035
AA Change: D33V

DomainStartEndE-ValueType
Pfam:GST_N_3 4 89 8.8e-7 PFAM
Pfam:GST_N 5 78 4.2e-19 PFAM
Pfam:GST_C 100 188 5.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124215
AA Change: D27V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118707
Gene: ENSMUSG00000004035
AA Change: D27V

DomainStartEndE-ValueType
Pfam:GST_N 1 72 8.6e-20 PFAM
Pfam:GST_N_3 3 83 4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000133947
AA Change: D78V

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122567
Gene: ENSMUSG00000004035
AA Change: D78V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GST_N 45 123 2.6e-19 PFAM
Pfam:GST_N_3 54 134 1.4e-6 PFAM
Meta Mutation Damage Score 0.4157 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,604,261 (GRCm39) R658H probably benign Het
Als2cl C T 9: 110,727,151 (GRCm39) R906C probably damaging Het
Asb8 T C 15: 98,034,282 (GRCm39) H91R probably damaging Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Bves G A 10: 45,222,386 (GRCm39) R172H possibly damaging Het
C6 A T 15: 4,763,177 (GRCm39) N59I probably damaging Het
Capn15 A T 17: 26,180,724 (GRCm39) V782D probably damaging Het
Ccdc168 T A 1: 44,096,466 (GRCm39) Y1544F possibly damaging Het
Ccdc18 T C 5: 108,309,554 (GRCm39) L383S probably benign Het
Coro6 C A 11: 77,357,056 (GRCm39) N119K probably benign Het
Cps1 T A 1: 67,237,569 (GRCm39) D1023E probably damaging Het
Dctn1 T A 6: 83,172,262 (GRCm39) probably null Het
Ero1a T A 14: 45,544,040 (GRCm39) K55* probably null Het
Fam209 G A 2: 172,314,751 (GRCm39) G80D possibly damaging Het
Fam89b G A 19: 5,779,276 (GRCm39) R94C probably damaging Het
Fut1 A G 7: 45,269,181 (GRCm39) *323W probably null Het
Garin2 C T 12: 78,766,176 (GRCm39) T315I probably benign Het
Gm47985 T A 1: 151,058,890 (GRCm39) F177Y possibly damaging Het
H2-Aa T A 17: 34,503,484 (GRCm39) S38C possibly damaging Het
Ighg2c T C 12: 113,252,343 (GRCm39) T70A Het
Ino80 A G 2: 119,257,068 (GRCm39) probably null Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Kcnt2 A G 1: 140,310,785 (GRCm39) N197S probably damaging Het
Kif11 T A 19: 37,373,040 (GRCm39) C86* probably null Het
Lonp1 A T 17: 56,933,549 (GRCm39) F109I probably benign Het
Mlkl G A 8: 112,046,074 (GRCm39) S312L possibly damaging Het
Mroh9 T A 1: 162,866,525 (GRCm39) Q706L possibly damaging Het
Mtmr7 T C 8: 41,008,874 (GRCm39) H315R possibly damaging Het
Myh7b G C 2: 155,456,053 (GRCm39) R146P probably damaging Het
Naip5 A G 13: 100,358,855 (GRCm39) Y794H probably benign Het
Nup153 A T 13: 46,840,949 (GRCm39) N886K probably benign Het
Nup205 A G 6: 35,192,077 (GRCm39) R1047G possibly damaging Het
Oog3 A T 4: 143,887,027 (GRCm39) L31Q probably damaging Het
Or5b123 T A 19: 13,596,990 (GRCm39) S155T probably benign Het
Or6c38 T C 10: 128,929,744 (GRCm39) Y33C probably damaging Het
Palmd T C 3: 116,717,012 (GRCm39) N495S probably benign Het
Patj A G 4: 98,565,497 (GRCm39) Q1070R probably benign Het
Pax1 G A 2: 147,207,824 (GRCm39) R232H probably damaging Het
Pcdhb1 A G 18: 37,399,582 (GRCm39) N511S probably damaging Het
Pigs C T 11: 78,232,211 (GRCm39) L448F probably damaging Het
Pih1d2 A G 9: 50,533,077 (GRCm39) Y235C probably damaging Het
Pkd2l2 T A 18: 34,558,212 (GRCm39) I297K possibly damaging Het
Pou2f1 C T 1: 165,742,684 (GRCm39) V82I possibly damaging Het
Pramel1 T C 4: 143,123,074 (GRCm39) L17P probably damaging Het
Riok1 C T 13: 38,220,991 (GRCm39) probably benign Het
Scg3 C A 9: 75,568,664 (GRCm39) E358* probably null Het
Siglec15 T C 18: 78,091,946 (GRCm39) E85G probably damaging Het
Snx20 T C 8: 89,356,606 (GRCm39) H70R probably benign Het
Spi1 T A 2: 90,943,685 (GRCm39) S76R probably damaging Het
Stat5a T C 11: 100,770,111 (GRCm39) S463P probably damaging Het
Svs5 A G 2: 164,080,126 (GRCm39) I13T unknown Het
Tmem132e T C 11: 82,328,189 (GRCm39) S406P probably damaging Het
Top1mt T C 15: 75,540,560 (GRCm39) N237S possibly damaging Het
Trav6d-4 G A 14: 52,991,053 (GRCm39) V30M possibly damaging Het
Trp73 A T 4: 154,149,140 (GRCm39) M217K probably damaging Het
Vmn1r58 A G 7: 5,414,134 (GRCm39) I32T probably benign Het
Vmn1r9 T C 6: 57,048,396 (GRCm39) M157T probably benign Het
Vmn2r100 C T 17: 19,751,556 (GRCm39) S533F possibly damaging Het
Vmn2r112 T A 17: 22,821,507 (GRCm39) M160K probably benign Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign Het
Other mutations in Gstm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Gstm7 APN 3 107,837,594 (GRCm39) missense possibly damaging 0.93
PIT4142001:Gstm7 UTSW 3 107,838,799 (GRCm39) frame shift probably null
R0095:Gstm7 UTSW 3 107,837,879 (GRCm39) splice site probably benign
R0961:Gstm7 UTSW 3 107,834,302 (GRCm39) unclassified probably benign
R1052:Gstm7 UTSW 3 107,834,266 (GRCm39) missense probably benign 0.05
R2121:Gstm7 UTSW 3 107,834,230 (GRCm39) missense probably benign 0.00
R4610:Gstm7 UTSW 3 107,834,235 (GRCm39) missense possibly damaging 0.65
R5966:Gstm7 UTSW 3 107,838,747 (GRCm39) intron probably benign
R6393:Gstm7 UTSW 3 107,838,142 (GRCm39) critical splice donor site probably null
R7014:Gstm7 UTSW 3 107,834,278 (GRCm39) missense probably benign 0.00
R7741:Gstm7 UTSW 3 107,838,963 (GRCm39) missense possibly damaging 0.90
R7848:Gstm7 UTSW 3 107,835,902 (GRCm39) splice site probably null
R7988:Gstm7 UTSW 3 107,834,271 (GRCm39) missense possibly damaging 0.82
R7998:Gstm7 UTSW 3 107,837,657 (GRCm39) missense probably damaging 1.00
R8952:Gstm7 UTSW 3 107,838,757 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CAGAGTACACTCAAATCTTTCCTTAGC -3'
(R):5'- ATCCGTGCAGTCAATGGAGG -3'

Sequencing Primer
(F):5'- AGCATCTTCCATTGGCAAATC -3'
(R):5'- CAATGGAGGCATGCTCTTGC -3'
Posted On 2019-05-13