Incidental Mutation 'IGL02864:Gstk1'
ID 362276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gstk1
Ensembl Gene ENSMUSG00000029864
Gene Name glutathione S-transferase kappa 1
Synonyms DsbA-L, 0610025I19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02864
Quality Score
Status
Chromosome 6
Chromosomal Location 42222869-42227375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42224687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 135 (Y135C)
Ref Sequence ENSEMBL: ENSMUSP00000031897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031897] [ENSMUST00000204088]
AlphaFold Q9DCM2
Predicted Effect possibly damaging
Transcript: ENSMUST00000031897
AA Change: Y135C

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031897
Gene: ENSMUSG00000029864
AA Change: Y135C

DomainStartEndE-ValueType
Pfam:DSBA 7 211 1.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203174
Predicted Effect probably benign
Transcript: ENSMUST00000204088
AA Change: Y135C

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000145070
Gene: ENSMUSG00000029864
AA Change: Y135C

DomainStartEndE-ValueType
Pfam:DSBA 7 143 2.7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204792
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal male survival curves associated with increased glomerular nephropathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,937,080 (GRCm39) R347G probably damaging Het
Actl11 G A 9: 107,806,186 (GRCm39) A170T probably benign Het
Alpk2 T C 18: 65,440,670 (GRCm39) D241G probably benign Het
Arap2 A T 5: 62,835,308 (GRCm39) W745R probably damaging Het
Arhgef7 G A 8: 11,865,247 (GRCm39) V401I possibly damaging Het
Cacna1d A G 14: 29,773,663 (GRCm39) V1709A probably benign Het
Ccl20 T C 1: 83,095,799 (GRCm39) probably null Het
Cd209d C T 8: 3,927,122 (GRCm39) V48I probably benign Het
Cttnbp2 T C 6: 18,374,548 (GRCm39) N1559S probably benign Het
Dnah9 T C 11: 65,951,829 (GRCm39) Y1890C probably damaging Het
Dsel A T 1: 111,786,944 (GRCm39) M1197K probably damaging Het
Dtl A T 1: 191,288,938 (GRCm39) S259T probably benign Het
Fbxw10 G A 11: 62,764,349 (GRCm39) G672D probably damaging Het
Fhod1 C T 8: 106,063,796 (GRCm39) probably benign Het
Gtpbp2 G A 17: 46,476,520 (GRCm39) C282Y probably benign Het
Hapln3 A T 7: 78,767,812 (GRCm39) W113R probably benign Het
Ifng A G 10: 118,278,561 (GRCm39) Y74C probably damaging Het
Kyat1 C A 2: 30,082,089 (GRCm39) probably benign Het
Las1l A T X: 94,991,446 (GRCm39) D308E possibly damaging Het
Mdh1b T A 1: 63,760,762 (GRCm39) T100S probably benign Het
Nrap A T 19: 56,338,806 (GRCm39) M810K probably damaging Het
Otof T C 5: 30,543,685 (GRCm39) D593G probably damaging Het
Pnma5 A T X: 72,079,457 (GRCm39) D408E probably benign Het
Pramel46 G T 5: 95,418,543 (GRCm39) A151E possibly damaging Het
Psen2 T C 1: 180,073,268 (GRCm39) T18A probably benign Het
Ptk7 A T 17: 46,883,659 (GRCm39) V802E probably damaging Het
Setd1b G A 5: 123,297,002 (GRCm39) probably benign Het
Snap91 T C 9: 86,720,141 (GRCm39) N132S possibly damaging Het
Spag9 A G 11: 93,997,487 (GRCm39) H675R probably damaging Het
Tpra1 C A 6: 88,888,868 (GRCm39) P350H probably damaging Het
Trim43a C T 9: 88,470,165 (GRCm39) R324C probably benign Het
Ttn T C 2: 76,566,675 (GRCm39) I28073V probably benign Het
Ttn G T 2: 76,767,095 (GRCm39) H3023Q probably benign Het
Vmn1r21 A G 6: 57,820,661 (GRCm39) V261A probably benign Het
Vwa5b1 G A 4: 138,336,286 (GRCm39) P103S probably benign Het
Wars1 A G 12: 108,848,791 (GRCm39) M52T probably benign Het
Zcchc2 C T 1: 105,943,814 (GRCm39) H460Y probably damaging Het
Zscan12 G T 13: 21,552,730 (GRCm39) V185F probably benign Het
Other mutations in Gstk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Gstk1 APN 6 42,223,560 (GRCm39) missense possibly damaging 0.80
IGL03119:Gstk1 APN 6 42,226,833 (GRCm39) missense probably damaging 1.00
IGL03165:Gstk1 APN 6 42,226,368 (GRCm39) missense probably benign 0.02
R0033:Gstk1 UTSW 6 42,223,737 (GRCm39) splice site probably benign
R1460:Gstk1 UTSW 6 42,223,529 (GRCm39) missense probably damaging 1.00
R1699:Gstk1 UTSW 6 42,223,535 (GRCm39) missense probably benign 0.00
R2329:Gstk1 UTSW 6 42,223,848 (GRCm39) missense possibly damaging 0.67
R4831:Gstk1 UTSW 6 42,222,938 (GRCm39) start gained probably benign
R6187:Gstk1 UTSW 6 42,226,794 (GRCm39) missense possibly damaging 0.63
R7096:Gstk1 UTSW 6 42,226,407 (GRCm39) missense probably damaging 1.00
R7822:Gstk1 UTSW 6 42,224,686 (GRCm39) missense probably benign 0.11
Posted On 2015-12-18