Incidental Mutation 'IGL01080:Gstk1'
ID 51262
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 # IGL01080
Quality Score
Status
Chromosome 6
Chromosomal Location 42222869-42227375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42223560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 50 (D50V)
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: D50V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031897
Gene: ENSMUSG00000029864
AA Change: D50V

DomainStartEndE-ValueType
Pfam:DSBA 7 211 1.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203174
Predicted Effect possibly damaging
Transcript: ENSMUST00000204088
AA Change: D50V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145070
Gene: ENSMUSG00000029864
AA Change: D50V

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,984,258 (GRCm39) R663W probably damaging Het
Cacng5 A T 11: 107,768,754 (GRCm39) F179L probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Cd96 T C 16: 45,870,056 (GRCm39) E471G possibly damaging Het
Cpt1c T C 7: 44,610,333 (GRCm39) D621G probably damaging Het
Csmd3 T C 15: 47,744,799 (GRCm39) I1503V probably benign Het
Dmgdh T C 13: 93,840,286 (GRCm39) probably benign Het
Flg A T 3: 93,186,906 (GRCm39) K119N probably benign Het
Gale T C 4: 135,693,389 (GRCm39) Y104H probably damaging Het
Gm8005 T C 14: 42,258,971 (GRCm39) D119G unknown Het
Kmt2a T C 9: 44,720,389 (GRCm39) D3866G unknown Het
Mastl A G 2: 23,036,160 (GRCm39) S119P probably damaging Het
Or2aj4 A T 16: 19,384,958 (GRCm39) V225E probably damaging Het
Phf11c G A 14: 59,630,648 (GRCm39) T19I probably benign Het
Ppp1r16b A G 2: 158,599,092 (GRCm39) T355A probably damaging Het
Prmt7 T G 8: 106,963,846 (GRCm39) probably benign Het
Rad50 T C 11: 53,596,895 (GRCm39) T44A probably damaging Het
Rangap1 C T 15: 81,589,953 (GRCm39) probably benign Het
Slc27a3 A T 3: 90,292,767 (GRCm39) V634E probably benign Het
Tbxas1 T A 6: 38,998,115 (GRCm39) L228I probably damaging Het
Tnfaip3 T C 10: 18,887,403 (GRCm39) K41E probably benign Het
Tti1 C T 2: 157,824,379 (GRCm39) V1025I probably damaging Het
Tyrobp T C 7: 30,116,841 (GRCm39) probably null Het
Wfdc16 A T 2: 164,480,406 (GRCm39) W30R probably damaging Het
Zyg11b A T 4: 108,094,613 (GRCm39) L657Q probably damaging Het
Other mutations in Gstk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21