Incidental Mutation 'IGL00966:Stk39'
ID 26984
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 # IGL00966
Quality Score
Status
Chromosome 2
Chromosomal Location 68040789-68302381 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68042302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 544 (E544D)
Ref Sequence ENSEMBL: ENSMUSP00000099776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102715]
AlphaFold Q9Z1W9
Predicted Effect probably benign
Transcript: ENSMUST00000102715
AA Change: E544D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099776
Gene: ENSMUSG00000027030
AA Change: E544D

DomainStartEndE-ValueType
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Stk39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Stk39 APN 2 68,144,908 (GRCm39) missense possibly damaging 0.81
IGL01936:Stk39 APN 2 68,144,908 (GRCm39) missense probably benign 0.21
IGL02301:Stk39 APN 2 68,042,306 (GRCm39) missense probably damaging 1.00
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 2013-04-17