|Institutional Source||Beutler Lab|
|Gene Name||glutathione S-transferase kappa 1|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R7096 (G1)|
|Chromosomal Location||42245935-42250447 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 42249473 bp|
|Amino Acid Change||Threonine to Lysine at position 172 (T172K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031897 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031897] [ENSMUST00000204088]|
|Predicted Effect||probably damaging
AA Change: T172K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T172K
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
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||
|Other mutations in Gstk1||
(F):5'- GCAAAGGTCTTTCCAGGAAAAC -3'
(R):5'- TCCTTGACTAGGCTAAGGGG -3'
(F):5'- GGTCTTTCCAGGAAAACTTGAG -3'
(R):5'- CTTGACTAGGCTAAGGGGGTAGAAAG -3'