Incidental Mutation 'IGL02864:Gstk1'
ID362276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gstk1
Ensembl Gene ENSMUSG00000029864
Gene Nameglutathione S-transferase kappa 1
Synonyms0610025I19Rik, DsbA-L
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02864
Quality Score
Status
Chromosome6
Chromosomal Location42245935-42250447 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42247753 bp
ZygosityHeterozygous
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]
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: 122,143,431 R347G probably damaging Het
Actl11 G A 9: 107,928,987 A170T probably benign Het
Alpk2 T C 18: 65,307,599 D241G probably benign Het
Arap2 A T 5: 62,677,965 W745R probably damaging Het
Arhgef7 G A 8: 11,815,247 V401I possibly damaging Het
Cacna1d A G 14: 30,051,706 V1709A probably benign Het
Ccl20 T C 1: 83,118,078 probably null Het
Cd209d C T 8: 3,877,122 V48I probably benign Het
Cttnbp2 T C 6: 18,374,549 N1559S probably benign Het
Dnah9 T C 11: 66,061,003 Y1890C probably damaging Het
Dsel A T 1: 111,859,214 M1197K probably damaging Het
Dtl A T 1: 191,556,826 S259T probably benign Het
Fbxw10 G A 11: 62,873,523 G672D probably damaging Het
Fhod1 C T 8: 105,337,164 probably benign Het
Gm10424 G T 5: 95,270,684 A151E possibly damaging Het
Gtpbp2 G A 17: 46,165,594 C282Y probably benign Het
Hapln3 A T 7: 79,118,064 W113R probably benign Het
Ifng A G 10: 118,442,656 Y74C probably damaging Het
Kyat1 C A 2: 30,192,077 probably benign Het
Las1l A T X: 95,947,840 D308E possibly damaging Het
Mdh1b T A 1: 63,721,603 T100S probably benign Het
Nrap A T 19: 56,350,374 M810K probably damaging Het
Otof T C 5: 30,386,341 D593G probably damaging Het
Pnma5 A T X: 73,035,851 D408E probably benign Het
Psen2 T C 1: 180,245,703 T18A probably benign Het
Ptk7 A T 17: 46,572,733 V802E probably damaging Het
Setd1b G A 5: 123,158,939 probably benign Het
Snap91 T C 9: 86,838,088 N132S possibly damaging Het
Spag9 A G 11: 94,106,661 H675R probably damaging Het
Tpra1 C A 6: 88,911,886 P350H probably damaging Het
Trim43a C T 9: 88,588,112 R324C probably benign Het
Ttn G T 2: 76,936,751 H3023Q probably benign Het
Ttn T C 2: 76,736,331 I28073V probably benign Het
Vmn1r21 A G 6: 57,843,676 V261A probably benign Het
Vwa5b1 G A 4: 138,608,975 P103S probably benign Het
Wars A G 12: 108,882,865 M52T probably benign Het
Zcchc2 C T 1: 106,016,084 H460Y probably damaging Het
Zscan12 G T 13: 21,368,560 V185F probably benign Het
Other mutations in Gstk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Gstk1 APN 6 42246626 missense possibly damaging 0.80
IGL03119:Gstk1 APN 6 42249899 missense probably damaging 1.00
IGL03165:Gstk1 APN 6 42249434 missense probably benign 0.02
R0033:Gstk1 UTSW 6 42246803 splice site probably benign
R1460:Gstk1 UTSW 6 42246595 missense probably damaging 1.00
R1699:Gstk1 UTSW 6 42246601 missense probably benign 0.00
R2329:Gstk1 UTSW 6 42246914 missense possibly damaging 0.67
R4831:Gstk1 UTSW 6 42246004 start gained probably benign
R6187:Gstk1 UTSW 6 42249860 missense possibly damaging 0.63
R7096:Gstk1 UTSW 6 42249473 missense probably damaging 1.00
R7822:Gstk1 UTSW 6 42247752 missense probably benign 0.11
Posted On2015-12-18