Incidental Mutation 'IGL03369:Gsta3'
ID 420214
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 # IGL03369
Quality Score
Status
Chromosome 1
Chromosomal Location 21310789-21335799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21335173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 218 (K218R)
Ref Sequence ENSEMBL: ENSMUSP00000113262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027067] [ENSMUST00000121676] [ENSMUST00000124990]
AlphaFold P30115
Predicted Effect probably benign
Transcript: ENSMUST00000027067
AA Change: K218R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027067
Gene: ENSMUSG00000025934
AA Change: K218R

DomainStartEndE-ValueType
Pfam:GST_N 5 77 2.3e-20 PFAM
Pfam:GST_C 99 192 7.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121676
AA Change: K218R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113262
Gene: ENSMUSG00000025934
AA Change: K218R

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,380 (GRCm39) N72S possibly damaging Het
A2m G A 6: 121,653,862 (GRCm39) probably null Het
Angptl3 A T 4: 98,923,057 (GRCm39) probably benign Het
Aox4 A G 1: 58,301,746 (GRCm39) D1106G probably benign Het
Capn13 G A 17: 73,648,149 (GRCm39) probably benign Het
Cep250 A G 2: 155,832,191 (GRCm39) H1371R probably benign Het
Chrna1 A T 2: 73,400,789 (GRCm39) F247Y probably benign Het
Col2a1 T C 15: 97,879,923 (GRCm39) T813A unknown Het
Dab2 T C 15: 6,464,790 (GRCm39) V414A possibly damaging Het
Dach2 T C X: 112,465,937 (GRCm39) probably benign Het
Fap A G 2: 62,333,699 (GRCm39) probably benign Het
Fgd5 T A 6: 91,965,396 (GRCm39) V385D probably damaging Het
Fmnl1 A G 11: 103,088,008 (GRCm39) probably null Het
Gorasp2 G A 2: 70,513,336 (GRCm39) G201D probably damaging Het
Gp2 T A 7: 119,050,783 (GRCm39) Q316L probably damaging Het
Gpx8 T C 13: 113,179,696 (GRCm39) I202V probably damaging Het
Lama3 C T 18: 12,686,340 (GRCm39) T1195I probably benign Het
Map3k12 T C 15: 102,410,514 (GRCm39) R488G possibly damaging Het
Mapt A T 11: 104,173,259 (GRCm39) Y18F probably damaging Het
Med21 T C 6: 146,544,143 (GRCm39) V12A probably benign Het
Mgat4b A G 11: 50,124,936 (GRCm39) E457G possibly damaging Het
Mybl1 T A 1: 9,742,780 (GRCm39) K609N probably damaging Het
Ncaph2 T G 15: 89,247,858 (GRCm39) V75G probably benign Het
Neb A G 2: 52,068,049 (GRCm39) Y5795H probably benign Het
Nup153 A G 13: 46,854,459 (GRCm39) probably null Het
Or6c215 T C 10: 129,638,340 (GRCm39) D18G probably damaging Het
Or6y1 T A 1: 174,276,435 (GRCm39) I82N probably damaging Het
Plekhf2 G T 4: 10,990,703 (GRCm39) T213K probably benign Het
Plekho2 C A 9: 65,466,776 (GRCm39) G105W probably damaging Het
Polr3b G A 10: 84,512,816 (GRCm39) G566D probably damaging Het
Rasgrf1 T C 9: 89,892,504 (GRCm39) I1068T probably damaging Het
Rnf213 A T 11: 119,312,294 (GRCm39) E907V probably benign Het
Runx1t1 C T 4: 13,881,107 (GRCm39) S469F probably damaging Het
Spata31e4 G T 13: 50,857,200 (GRCm39) C946F possibly damaging Het
Top1 A T 2: 160,535,647 (GRCm39) D182V unknown Het
Uckl1 T C 2: 181,211,982 (GRCm39) T375A probably benign Het
Usp53 A T 3: 122,727,370 (GRCm39) probably benign Het
Vmn2r61 T A 7: 41,909,517 (GRCm39) I14N probably benign Het
Wbp4 A T 14: 79,707,558 (GRCm39) N184K probably damaging Het
Other mutations in Gsta3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02274:Gsta3 APN 1 21,320,012 (GRCm39) missense possibly damaging 0.49
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 2016-08-02