Incidental Mutation 'IGL03165:Gstk1'
ID 411596
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 # IGL03165
Quality Score
Status
Chromosome 6
Chromosomal Location 42222869-42227375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 42226368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 159 (I159S)
Ref Sequence ENSEMBL: ENSMUSP00000031897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031897] [ENSMUST00000204088]
AlphaFold Q9DCM2
Predicted Effect probably benign
Transcript: ENSMUST00000031897
AA Change: I159S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031897
Gene: ENSMUSG00000029864
AA Change: I159S

DomainStartEndE-ValueType
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

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,475 (GRCm39) I334V probably benign Het
Axdnd1 T A 1: 156,205,959 (GRCm39) Y519F probably benign Het
C4b A G 17: 34,958,929 (GRCm39) F500S probably benign Het
Cacng2 A T 15: 77,879,863 (GRCm39) I153N possibly damaging Het
Ces1d T A 8: 93,916,147 (GRCm39) H160L probably benign Het
Cnnm3 T G 1: 36,564,313 (GRCm39) probably benign Het
Ctnna3 A G 10: 64,781,720 (GRCm39) T728A probably damaging Het
Cyp2g1 G A 7: 26,509,201 (GRCm39) V92M possibly damaging Het
Dock2 C A 11: 34,578,360 (GRCm39) V35F probably damaging Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Erp44 C T 4: 48,236,872 (GRCm39) probably null Het
Flg2 C T 3: 93,121,918 (GRCm39) H1363Y unknown Het
Flnc G T 6: 29,449,377 (GRCm39) G1425W probably damaging Het
Frem3 A G 8: 81,339,158 (GRCm39) N484D probably benign Het
Fstl3 A G 10: 79,615,799 (GRCm39) D95G probably benign Het
Gldc A G 19: 30,076,393 (GRCm39) S1018P possibly damaging Het
Herc2 A G 7: 55,841,660 (GRCm39) E3513G probably damaging Het
Hpca A T 4: 129,012,383 (GRCm39) I51N probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Igkv4-74 T C 6: 69,162,289 (GRCm39) probably benign Het
Kdm7a C A 6: 39,147,848 (GRCm39) probably benign Het
Or1e23 A T 11: 73,407,710 (GRCm39) L105* probably null Het
Or52z14 T C 7: 103,253,218 (GRCm39) I119T probably damaging Het
Or5al6 A C 2: 85,976,412 (GRCm39) L222R possibly damaging Het
Pa2g4 A T 10: 128,394,929 (GRCm39) probably null Het
Pdlim3 T A 8: 46,372,035 (GRCm39) L360Q possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polk T A 13: 96,653,196 (GRCm39) Q68L probably benign Het
Ppfia2 T G 10: 106,603,348 (GRCm39) L195R probably damaging Het
Ranbp1 A T 16: 18,065,145 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,845 (GRCm39) R606G possibly damaging Het
Ryr1 A G 7: 28,804,465 (GRCm39) V488A probably benign Het
Sall2 A T 14: 52,551,625 (GRCm39) D521E probably damaging Het
Sntg1 A T 1: 8,515,328 (GRCm39) C402S probably damaging Het
Spg7 T C 8: 123,807,551 (GRCm39) probably null Het
Stk31 G A 6: 49,422,198 (GRCm39) E750K probably damaging Het
Tlr2 A G 3: 83,745,255 (GRCm39) I276T probably benign Het
Trav12-2 A T 14: 53,854,206 (GRCm39) H60L probably benign Het
Urb1 A G 16: 90,577,192 (GRCm39) L775S probably damaging Het
Utp14b A G 1: 78,642,237 (GRCm39) D45G probably damaging 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
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 2016-08-02