Incidental Mutation 'R2329:Gstk1'
ID 245793
Institutional Source Beutler Lab
Gene Symbol Gstk1
Ensembl Gene ENSMUSG00000029864
Gene Name glutathione S-transferase kappa 1
Synonyms DsbA-L, 0610025I19Rik
MMRRC Submission 040320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R2329 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 42222869-42227375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42223848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 86 (D86E)
Ref Sequence ENSEMBL: ENSMUSP00000145070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031897] [ENSMUST00000204088]
AlphaFold Q9DCM2
Predicted Effect probably benign
Transcript: ENSMUST00000031897
AA Change: D86E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031897
Gene: ENSMUSG00000029864
AA Change: D86E

DomainStartEndE-ValueType
Pfam:DSBA 7 211 1.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203174
Predicted Effect possibly damaging
Transcript: ENSMUST00000204088
AA Change: D86E

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145070
Gene: ENSMUSG00000029864
AA Change: D86E

DomainStartEndE-ValueType
Pfam:DSBA 7 143 2.7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204792
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A C 13: 77,451,444 (GRCm39) S843R probably benign Het
Adamts15 G T 9: 30,813,781 (GRCm39) R795S probably damaging Het
Adora2a T A 10: 75,162,017 (GRCm39) V52E probably damaging Het
Amph T A 13: 19,323,520 (GRCm39) L594Q probably benign Het
Batf3 A T 1: 190,840,646 (GRCm39) probably null Het
Ccdc146 C T 5: 21,513,610 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csn3 A G 5: 88,077,862 (GRCm39) T123A possibly damaging Het
Cspg4 A G 9: 56,795,834 (GRCm39) T1190A probably benign Het
Dab2 C A 15: 6,459,044 (GRCm39) Q298K possibly damaging Het
Dpp6 T C 5: 27,656,286 (GRCm39) probably null Het
Efcab6 C T 15: 83,834,249 (GRCm39) R453Q possibly damaging Het
Ern2 C T 7: 121,772,710 (GRCm39) M610I possibly damaging Het
Fnip1 A G 11: 54,356,933 (GRCm39) D38G probably damaging Het
Fosb T C 7: 19,041,110 (GRCm39) T128A probably benign Het
Gad2 G A 2: 22,558,301 (GRCm39) V340M probably damaging Het
Gm19684 T A 17: 36,439,345 (GRCm39) probably benign Het
Hus1 A G 11: 8,957,492 (GRCm39) probably null Het
Kbtbd8 T C 6: 95,103,761 (GRCm39) I547T probably benign Het
Mrpl38 T A 11: 116,022,845 (GRCm39) H373L possibly damaging Het
Nostrin A T 2: 68,991,438 (GRCm39) T144S probably damaging Het
Prl8a6 T C 13: 27,621,050 (GRCm39) H60R probably benign Het
Ros1 A G 10: 52,038,983 (GRCm39) I329T probably damaging Het
Scd2 T A 19: 44,286,492 (GRCm39) Y107* probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc34a3 T C 2: 25,119,422 (GRCm39) T483A possibly damaging Het
Slc35c1 A T 2: 92,289,040 (GRCm39) Y155* probably null Het
Susd1 T C 4: 59,379,715 (GRCm39) D304G possibly damaging Het
Taf5 C T 19: 47,063,563 (GRCm39) S371L probably benign Het
Tenm4 A G 7: 96,545,069 (GRCm39) T2362A probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Ttn G A 2: 76,599,786 (GRCm39) P19102S probably damaging Het
Ttn A G 2: 76,608,412 (GRCm39) V17837A probably damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Ulk4 C T 9: 121,101,953 (GRCm39) E42K probably damaging Het
Vmn1r184 A T 7: 25,966,387 (GRCm39) L44F probably damaging Het
Zfp932 A T 5: 110,157,406 (GRCm39) H368L probably benign Het
Other mutations in Gstk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Gstk1 APN 6 42,223,560 (GRCm39) missense possibly damaging 0.80
IGL02864:Gstk1 APN 6 42,224,687 (GRCm39) missense possibly damaging 0.48
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
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
Predicted Primers PCR Primer
(F):5'- TGAGTATGCAGACCTCAGCC -3'
(R):5'- TGATATCCTATGAAAGCCTCAGC -3'

Sequencing Primer
(F):5'- GTATGCAGACCTCAGCCTAAACTAG -3'
(R):5'- AGCTGGACTGCTCTCCAC -3'
Posted On 2014-10-30