|Institutional Source||Beutler Lab|
|Gene Name||serine/threonine kinase 39|
|Synonyms||DCHT, Rnl5, RF005, SPAK|
|Is this an essential gene?||Possibly non essential (E-score: 0.468)|
|Stock #||R6332 (G1)|
|Chromosomal Location||68210445-68472268 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 68410043 bp (GRCm38)|
|Amino Acid Change||Methionine to Valine at position 115 (M115V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099776 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102715]|
AA Change: M115V
PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: M115V
|Meta Mutation Damage Score||0.1103|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced bumetanide-sensitive thallium, a potassium tracer, uptake in dorsal root ganglion neurons and reduced fertility. Mice with an ENU mutation in intron 8 exhibit elevated albumin-creatinine (ACR) ratios. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stk39||
(F):5'- GAGTGTCACACTGAGACCAC -3'
(R):5'- TGGTAACATTTTGAACACCTCCAG -3'
(F):5'- ACTGAGACCACTGGAACTGCG -3'
(R):5'- CCAGTGAAAGACTTAAATTACAGGC -3'