Incidental Mutation 'R8483:Gsta3'
ID 657601
Institutional Source Beutler Lab
Gene Symbol Gsta3
Ensembl Gene ENSMUSG00000025934
Gene Name glutathione S-transferase, alpha 3
Synonyms Gst2-3
MMRRC Submission 067927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R8483 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 21310789-21335799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21333063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 104 (S104N)
Ref Sequence ENSEMBL: ENSMUSP00000140210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027067] [ENSMUST00000121676] [ENSMUST00000124990]
AlphaFold P30115
Predicted Effect probably damaging
Transcript: ENSMUST00000027067
AA Change: S154N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027067
Gene: ENSMUSG00000025934
AA Change: S154N

DomainStartEndE-ValueType
Pfam:GST_N 5 77 2.3e-20 PFAM
Pfam:GST_C 99 192 7.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121676
AA Change: S154N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113262
Gene: ENSMUSG00000025934
AA Change: S154N

DomainStartEndE-ValueType
Pfam:GST_N 5 77 2.4e-20 PFAM
Pfam:GST_C 99 192 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124990
AA Change: S104N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140210
Gene: ENSMUSG00000025934
AA Change: S104N

DomainStartEndE-ValueType
Pfam:GST_N 1 27 7.7e-5 PFAM
Pfam:GST_C 49 133 3e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
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. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. 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-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene does not alter viability, fertility or general health. However, adult homozygous mutant mice exhibit increased sensitivity to the acute cytotoxic and genotoxic effects of aflatoxin B1, a major risk factor for hepatocellular carcinoma in humans. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 A G 14: 44,239,285 (GRCm39) *148Q probably null Het
Ankrd28 A T 14: 31,457,048 (GRCm39) probably null Het
Ark2c G A 18: 77,556,034 (GRCm39) A174V probably benign Het
Aurkc T A 7: 6,999,664 (GRCm39) L57* probably null Het
Brca1 T C 11: 101,416,802 (GRCm39) D444G probably damaging Het
Cd200l1 T A 16: 45,240,235 (GRCm39) I134F possibly damaging Het
Cdhr4 T C 9: 107,872,198 (GRCm39) V204A probably damaging Het
Chd7 A G 4: 8,822,412 (GRCm39) D835G possibly damaging Het
Cux1 C A 5: 136,303,944 (GRCm39) A1328S possibly damaging Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Cyp39a1 A G 17: 43,993,898 (GRCm39) D186G probably benign Het
Dnah3 T C 7: 119,536,253 (GRCm39) I3677V probably benign Het
Dnmt3b A G 2: 153,516,306 (GRCm39) D477G probably damaging Het
Drc1 A T 5: 30,507,785 (GRCm39) Y269F probably benign Het
Esco2 T C 14: 66,069,118 (GRCm39) H64R probably benign Het
Gcnt3 A T 9: 69,941,959 (GRCm39) V203E probably damaging Het
Gpam A C 19: 55,077,374 (GRCm39) V139G probably damaging Het
Hsd17b13 C T 5: 104,125,049 (GRCm39) G45R probably damaging Het
Ighe T C 12: 113,235,808 (GRCm39) M173V Het
Ipo5 A G 14: 121,183,560 (GRCm39) E1046G probably benign Het
Kank4 T A 4: 98,659,615 (GRCm39) Q821L probably damaging Het
Kat6b G T 14: 21,719,461 (GRCm39) S1271I probably damaging Het
Klhl1 A G 14: 96,619,370 (GRCm39) S176P probably benign Het
Lbhd2 G A 12: 111,378,190 (GRCm39) D86N probably damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Lrrc55 A T 2: 85,022,295 (GRCm39) C299S probably benign Het
Mtres1 T C 10: 43,408,915 (GRCm39) Y76C probably benign Het
Nprl3 T A 11: 32,213,083 (GRCm39) S44C probably damaging Het
Nucks1 A G 1: 131,855,829 (GRCm39) H86R possibly damaging Het
Or14j3 A G 17: 37,900,866 (GRCm39) V126A possibly damaging Het
Or4s2 A G 2: 88,473,678 (GRCm39) D189G probably benign Het
Or6c219 T A 10: 129,780,998 (GRCm39) H311L probably benign Het
Ovgp1 T A 3: 105,894,311 (GRCm39) probably benign Het
Oxa1l G A 14: 54,606,001 (GRCm39) probably null Het
Patj C A 4: 98,312,539 (GRCm39) H292Q probably damaging Het
Pcdha9 A G 18: 37,131,636 (GRCm39) N235S probably benign Het
Pcdhb12 A T 18: 37,570,590 (GRCm39) T579S possibly damaging Het
Pde3b A G 7: 114,118,803 (GRCm39) I647M probably benign Het
Pdp1 T C 4: 11,961,982 (GRCm39) R110G probably benign Het
Prb1a T G 6: 132,185,398 (GRCm39) R78S unknown Het
Prmt8 A C 6: 127,680,976 (GRCm39) probably null Het
Semp2l2a T A 8: 13,888,229 (GRCm39) probably benign Het
Slc35f2 T A 9: 53,716,985 (GRCm39) Y249* probably null Het
Smok2b A C 17: 13,453,908 (GRCm39) M23L probably benign Het
Sra1 A G 18: 36,800,879 (GRCm39) I153T probably benign Het
Stk38l T A 6: 146,660,017 (GRCm39) H16Q possibly damaging Het
Tent5c T A 3: 100,379,784 (GRCm39) H324L probably damaging Het
Unc80 T C 1: 66,732,869 (GRCm39) S3073P possibly damaging Het
Usp24 T C 4: 106,230,953 (GRCm39) I844T probably damaging Het
V1ra8 A T 6: 90,179,916 (GRCm39) I40F probably benign Het
Vmn2r88 T A 14: 51,650,530 (GRCm39) M81K possibly damaging Het
Vps8 T C 16: 21,393,763 (GRCm39) I1182T probably damaging Het
Wdr54 A G 6: 83,130,591 (GRCm39) V181A probably benign Het
Zbed4 A G 15: 88,665,990 (GRCm39) Y686C probably damaging Het
Zfyve28 T C 5: 34,393,480 (GRCm39) N62S possibly damaging Het
Zic1 T C 9: 91,246,424 (GRCm39) Y216C probably damaging Het
Other mutations in Gsta3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02274:Gsta3 APN 1 21,320,012 (GRCm39) missense possibly damaging 0.49
IGL03369:Gsta3 APN 1 21,335,173 (GRCm39) missense probably benign 0.00
R0309:Gsta3 UTSW 1 21,335,118 (GRCm39) missense possibly damaging 0.92
R1940:Gsta3 UTSW 1 21,327,601 (GRCm39) missense probably benign 0.08
R3721:Gsta3 UTSW 1 21,330,313 (GRCm39) missense probably benign 0.30
R4761:Gsta3 UTSW 1 21,330,381 (GRCm39) missense probably benign 0.00
R8156:Gsta3 UTSW 1 21,330,322 (GRCm39) missense probably benign
R8433:Gsta3 UTSW 1 21,335,172 (GRCm39) missense probably benign 0.00
R8836:Gsta3 UTSW 1 21,330,283 (GRCm39) missense probably benign 0.35
R8897:Gsta3 UTSW 1 21,330,370 (GRCm39) missense probably benign 0.34
R9506:Gsta3 UTSW 1 21,327,586 (GRCm39) missense possibly damaging 0.53
R9516:Gsta3 UTSW 1 21,320,060 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATGGTCAGAGATCTGCTTC -3'
(R):5'- TCATAGGTTAAATGAGAGGGCTAGC -3'

Sequencing Primer
(F):5'- ATTTTATCATGAGCCAGGGCC -3'
(R):5'- GCTAGCTATGGAGGCAGGC -3'
Posted On 2021-01-18