Incidental Mutation 'IGL02301:Stk39'
ID 290292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk39
Ensembl Gene ENSMUSG00000027030
Gene Name serine/threonine kinase 39
Synonyms SPAK, DCHT, Rnl5, RF005
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.491) question?
Stock # IGL02301
Quality Score
Chromosome 2
Chromosomal Location 68040789-68302381 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68042306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 543 (D543G)
Ref Sequence ENSEMBL: ENSMUSP00000099776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102715]
AlphaFold Q9Z1W9
Predicted Effect probably damaging
Transcript: ENSMUST00000102715
AA Change: D543G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099776
Gene: ENSMUSG00000027030
AA Change: D543G

low complexity region 14 65 N/A INTRINSIC
S_TKc 75 349 4.44e-80 SMART
Pfam:OSR1_C 463 494 1.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144457
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 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
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,551,900 (GRCm39) probably benign Het
Alk T C 17: 72,181,171 (GRCm39) Q1373R probably damaging Het
Atf7ip2 T G 16: 10,028,911 (GRCm39) S148A probably benign Het
Bpi C T 2: 158,116,734 (GRCm39) S377F probably damaging Het
Ccni A T 5: 93,336,034 (GRCm39) C122S possibly damaging Het
Cd5l A G 3: 87,273,300 (GRCm39) R90G probably benign Het
Ceacam3 C T 7: 16,897,026 (GRCm39) S664F probably damaging Het
Clca3a2 A T 3: 144,512,133 (GRCm39) D534E probably damaging Het
Ep400 A T 5: 110,822,826 (GRCm39) S2524R probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gart A G 16: 91,418,725 (GRCm39) probably benign Het
Gsdmc4 A G 15: 63,767,113 (GRCm39) V219A probably benign Het
Hus1 T C 11: 8,946,915 (GRCm39) T261A probably benign Het
Lman2l A G 1: 36,482,624 (GRCm39) I84T probably damaging Het
Megf8 G A 7: 25,037,325 (GRCm39) V742M probably damaging Het
Myo1d A G 11: 80,567,679 (GRCm39) V267A probably benign Het
Notch2 A G 3: 98,048,870 (GRCm39) T1803A probably benign Het
Or1e17 T A 11: 73,831,894 (GRCm39) M274K possibly damaging Het
Or4f54 T A 2: 111,123,042 (GRCm39) M143K probably benign Het
Or6c70 A G 10: 129,709,948 (GRCm39) F226S probably damaging Het
Pate11 T C 9: 36,388,483 (GRCm39) probably benign Het
Pde5a G A 3: 122,554,534 (GRCm39) R208Q probably damaging Het
Pla2r1 T C 2: 60,282,780 (GRCm39) N745S probably benign Het
Ptgdr2 T A 19: 10,917,573 (GRCm39) I30N possibly damaging Het
Rap1gap2 G A 11: 74,298,195 (GRCm39) T415I probably damaging Het
Slc6a6 T C 6: 91,703,037 (GRCm39) Y137H probably benign Het
Sptbn1 A T 11: 30,092,129 (GRCm39) D532E probably damaging Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Trrap A G 5: 144,714,727 (GRCm39) I100V probably benign Het
Vmn1r-ps123 A C 13: 23,180,527 (GRCm39) noncoding transcript Het
Vwa5b2 G A 16: 20,423,540 (GRCm39) G1151D probably damaging Het
Zfp358 T A 8: 3,546,858 (GRCm39) I480N probably benign Het
Zfp423 T C 8: 88,508,202 (GRCm39) D714G probably damaging Het
Other mutations in Stk39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Stk39 APN 2 68,144,908 (GRCm39) missense possibly damaging 0.81
IGL00966:Stk39 APN 2 68,042,302 (GRCm39) missense probably benign 0.01
IGL01936:Stk39 APN 2 68,144,908 (GRCm39) missense probably benign 0.21
IGL02940:Stk39 APN 2 68,051,243 (GRCm39) splice site probably null
claimjumper UTSW 2 68,144,923 (GRCm39) missense probably damaging 0.96
outlaw UTSW 2 68,137,383 (GRCm39) critical splice donor site probably null
rustler UTSW 2 68,093,647 (GRCm39) missense probably damaging 1.00
R0570:Stk39 UTSW 2 68,240,392 (GRCm39) missense probably damaging 1.00
R0609:Stk39 UTSW 2 68,196,511 (GRCm39) missense probably damaging 1.00
R0670:Stk39 UTSW 2 68,196,526 (GRCm39) missense possibly damaging 0.93
R0980:Stk39 UTSW 2 68,222,515 (GRCm39) missense probably damaging 1.00
R1024:Stk39 UTSW 2 68,240,390 (GRCm39) missense probably damaging 1.00
R1573:Stk39 UTSW 2 68,221,293 (GRCm39) missense probably damaging 1.00
R1713:Stk39 UTSW 2 68,137,460 (GRCm39) splice site probably benign
R2223:Stk39 UTSW 2 68,144,923 (GRCm39) missense probably damaging 0.96
R3700:Stk39 UTSW 2 68,222,462 (GRCm39) missense probably damaging 1.00
R4207:Stk39 UTSW 2 68,051,264 (GRCm39) missense probably benign 0.42
R4298:Stk39 UTSW 2 68,221,284 (GRCm39) missense probably damaging 1.00
R4726:Stk39 UTSW 2 68,093,647 (GRCm39) missense probably damaging 1.00
R4975:Stk39 UTSW 2 68,051,336 (GRCm39) intron probably benign
R5057:Stk39 UTSW 2 68,051,292 (GRCm39) missense probably damaging 0.99
R5384:Stk39 UTSW 2 68,240,383 (GRCm39) missense probably damaging 1.00
R5921:Stk39 UTSW 2 68,196,449 (GRCm39) missense probably damaging 0.97
R6125:Stk39 UTSW 2 68,222,468 (GRCm39) missense probably damaging 1.00
R6251:Stk39 UTSW 2 68,137,383 (GRCm39) critical splice donor site probably null
R6332:Stk39 UTSW 2 68,240,387 (GRCm39) missense possibly damaging 0.93
R6375:Stk39 UTSW 2 68,222,582 (GRCm39) missense probably benign 0.34
R7057:Stk39 UTSW 2 68,240,471 (GRCm39) missense possibly damaging 0.88
R7064:Stk39 UTSW 2 68,189,156 (GRCm39) critical splice donor site probably null
R7691:Stk39 UTSW 2 68,301,983 (GRCm39) missense probably damaging 0.97
R7921:Stk39 UTSW 2 68,137,383 (GRCm39) critical splice donor site probably null
R8155:Stk39 UTSW 2 68,097,410 (GRCm39) missense probably damaging 1.00
R8920:Stk39 UTSW 2 68,302,191 (GRCm39) missense unknown
R9003:Stk39 UTSW 2 68,222,462 (GRCm39) missense probably damaging 0.98
R9530:Stk39 UTSW 2 68,198,755 (GRCm39) missense probably damaging 1.00
R9682:Stk39 UTSW 2 68,196,449 (GRCm39) missense probably damaging 0.97
R9784:Stk39 UTSW 2 68,198,775 (GRCm39) missense probably damaging 1.00
Z1176:Stk39 UTSW 2 68,222,542 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16