Incidental Mutation 'IGL03119:Gstk1'
ID 409913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gstk1
Ensembl Gene ENSMUSG00000029864
Gene Name glutathione S-transferase kappa 1
Synonyms 0610025I19Rik, DsbA-L
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL03119
Quality Score
Chromosome 6
Chromosomal Location 42245935-42250447 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42249899 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 200 (S200P)
Ref Sequence ENSEMBL: ENSMUSP00000031897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031897] [ENSMUST00000204088]
AlphaFold Q9DCM2
Predicted Effect probably damaging
Transcript: ENSMUST00000031897
AA Change: S200P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031897
Gene: ENSMUSG00000029864
AA Change: S200P

Pfam:DSBA 7 211 1.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203174
Predicted Effect probably benign
Transcript: ENSMUST00000204088
SMART Domains Protein: ENSMUSP00000145070
Gene: ENSMUSG00000029864

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 (GRCm38) T626A probably benign Het
Adcy1 C T 11: 7,109,051 (GRCm38) T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 (GRCm38) S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 (GRCm38) C4742G probably benign Het
Arid5b A T 10: 68,243,227 (GRCm38) D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 (GRCm38) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 153,981,724 (GRCm38) K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 (GRCm38) E708G probably damaging Het
Dst A G 1: 34,161,062 (GRCm38) Y107C probably damaging Het
E2f3 A G 13: 29,985,365 (GRCm38) S102P probably benign Het
Eif3e A C 15: 43,265,604 (GRCm38) S207A probably benign Het
Etl4 A G 2: 20,713,387 (GRCm38) Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 (GRCm38) V121A probably benign Het
Ifrd1 A T 12: 40,212,334 (GRCm38) F244L probably null Het
Ints7 T C 1: 191,610,365 (GRCm38) V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 (GRCm38) E71* probably null Het
Ltbp3 A T 19: 5,757,443 (GRCm38) Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 (GRCm38) T961A probably benign Het
Naa25 T A 5: 121,434,978 (GRCm38) V720E probably null Het
Olfr1480 T C 19: 13,530,435 (GRCm38) I298T probably benign Het
Olfr599 A G 7: 103,338,722 (GRCm38) I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 (GRCm38) T433N probably damaging Het
Peli1 T C 11: 21,140,560 (GRCm38) probably benign Het
Ptbp1 T C 10: 79,859,624 (GRCm38) V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 (GRCm38) Y31C probably damaging Het
Smg1 G A 7: 118,195,113 (GRCm38) probably benign Het
Stat2 A G 10: 128,283,517 (GRCm38) M457V probably benign Het
Trpm6 G T 19: 18,838,017 (GRCm38) E1156* probably null Het
Usp53 T A 3: 122,961,415 (GRCm38) R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 (GRCm38) S193P probably benign Het
Xrn2 A G 2: 147,042,872 (GRCm38) I626V probably damaging Het
Zfp574 G A 7: 25,080,473 (GRCm38) A307T probably benign Het
Other mutations in Gstk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Gstk1 APN 6 42,246,626 (GRCm38) missense possibly damaging 0.80
IGL02864:Gstk1 APN 6 42,247,753 (GRCm38) missense possibly damaging 0.48
IGL03165:Gstk1 APN 6 42,249,434 (GRCm38) missense probably benign 0.02
R0033:Gstk1 UTSW 6 42,246,803 (GRCm38) splice site probably benign
R1460:Gstk1 UTSW 6 42,246,595 (GRCm38) missense probably damaging 1.00
R1699:Gstk1 UTSW 6 42,246,601 (GRCm38) missense probably benign 0.00
R2329:Gstk1 UTSW 6 42,246,914 (GRCm38) missense possibly damaging 0.67
R4831:Gstk1 UTSW 6 42,246,004 (GRCm38) start gained probably benign
R6187:Gstk1 UTSW 6 42,249,860 (GRCm38) missense possibly damaging 0.63
R7096:Gstk1 UTSW 6 42,249,473 (GRCm38) missense probably damaging 1.00
R7822:Gstk1 UTSW 6 42,247,752 (GRCm38) missense probably benign 0.11
Posted On 2016-08-02