Incidental Mutation 'IGL02274:Gsta3'
ID 287282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsta3
Ensembl Gene ENSMUSG00000025934
Gene Name glutathione S-transferase, alpha 3
Synonyms Gst2-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL02274
Quality Score
Status
Chromosome 1
Chromosomal Location 21310789-21335799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21320012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 6 (V6G)
Ref Sequence ENSEMBL: ENSMUSP00000113262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027067] [ENSMUST00000121676] [ENSMUST00000124990]
AlphaFold P30115
Predicted Effect possibly damaging
Transcript: ENSMUST00000027067
AA Change: V6G

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027067
Gene: ENSMUSG00000025934
AA Change: V6G

DomainStartEndE-ValueType
Pfam:GST_N 5 77 2.3e-20 PFAM
Pfam:GST_C 99 192 7.4e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121676
AA Change: V6G

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113262
Gene: ENSMUSG00000025934
AA Change: V6G

DomainStartEndE-ValueType
Pfam:GST_N 5 77 2.4e-20 PFAM
Pfam:GST_C 99 192 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124990
SMART Domains Protein: ENSMUSP00000140210
Gene: ENSMUSG00000025934

DomainStartEndE-ValueType
Pfam:GST_N 1 27 7.7e-5 PFAM
Pfam:GST_C 49 133 3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190711
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 A G 8: 14,997,205 (GRCm39) D48G probably damaging Het
Asnsd1 T C 1: 53,386,734 (GRCm39) I298V probably benign Het
Cacna2d3 G T 14: 28,678,827 (GRCm39) probably null Het
Cbs T C 17: 31,844,922 (GRCm39) probably null Het
Ccm2 C A 11: 6,540,808 (GRCm39) T216K probably damaging Het
Galc C T 12: 98,220,473 (GRCm39) W131* probably null Het
Gemin5 T C 11: 58,047,621 (GRCm39) R318G possibly damaging Het
Hdlbp A T 1: 93,336,229 (GRCm39) probably null Het
Igkv13-55-1 T G 6: 69,577,132 (GRCm39) noncoding transcript Het
Il17rd A G 14: 26,821,867 (GRCm39) Y387C probably damaging Het
Katnip A G 7: 125,369,742 (GRCm39) probably null Het
Kmt2e C T 5: 23,705,758 (GRCm39) T1344I probably benign Het
L3mbtl4 A C 17: 69,071,579 (GRCm39) H502P probably benign Het
Lrig1 A T 6: 94,640,919 (GRCm39) N95K possibly damaging Het
Neurl2 G T 2: 164,675,012 (GRCm39) R117S probably damaging Het
Nos1 G A 5: 118,035,845 (GRCm39) A449T probably damaging Het
Noxa1 A T 2: 24,975,767 (GRCm39) V435E probably benign Het
Parp9 C T 16: 35,768,317 (GRCm39) R166W probably damaging Het
Pdzd2 A G 15: 12,445,735 (GRCm39) I158T probably damaging Het
Pip5k1c T C 10: 81,142,218 (GRCm39) Y143H probably damaging Het
Qrfpr A G 3: 36,276,285 (GRCm39) V35A probably damaging Het
Rab3gap1 T G 1: 127,866,817 (GRCm39) S881A probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scai G A 2: 38,992,329 (GRCm39) probably benign Het
Skic2 T A 17: 35,064,839 (GRCm39) I418F probably damaging Het
Tenm4 A C 7: 96,503,941 (GRCm39) H1300P probably damaging Het
Tmppe A G 9: 114,234,499 (GRCm39) H266R probably benign Het
Wdr11 A T 7: 129,232,896 (GRCm39) probably null Het
Xirp2 A G 2: 67,338,995 (GRCm39) E412G probably benign Het
Zan A G 5: 137,419,429 (GRCm39) V2910A unknown Het
Other mutations in Gsta3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8483:Gsta3 UTSW 1 21,333,063 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16