Incidental Mutation 'R8288:Stk24'
ID638543
Institutional Source Beutler Lab
Gene Symbol Stk24
Ensembl Gene ENSMUSG00000063410
Gene Nameserine/threonine kinase 24
SynonymsSTE20, 1810013H02Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.356) question?
Stock #R8288 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location121286343-121380011 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 121293429 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 372 (F372V)
Ref Sequence ENSEMBL: ENSMUSP00000078746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079817]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079817
AA Change: F372V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: F372V

DomainStartEndE-ValueType
S_TKc 24 274 3.18e-99 SMART
low complexity region 297 324 N/A INTRINSIC
PDB:3W8H|B 356 422 1e-20 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: A hypomorphic mutation increases degranulation of, and exocytosis by, neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 C T 8: 22,793,137 A200T probably benign Het
Arpp19 T C 9: 75,037,632 M1T probably null Het
Baiap2 T A 11: 119,997,639 V407E probably damaging Het
Cdh18 A G 15: 23,445,987 T508A probably damaging Het
Cnnm3 C A 1: 36,511,993 A28E possibly damaging Het
Cpb1 A T 3: 20,265,367 C184* probably null Het
Ddb1 T C 19: 10,608,348 V142A probably benign Het
Disp2 T C 2: 118,790,281 V498A probably damaging Het
Dmgdh T C 13: 93,708,824 Y442H probably damaging Het
Eef2k T A 7: 120,903,381 M722K probably damaging Het
Erbb4 A G 1: 68,298,350 F603S probably damaging Het
Filip1l C T 16: 57,570,554 R502C probably damaging Het
Gbp9 C T 5: 105,105,733 V39M probably damaging Het
Gm17079 T C 14: 51,694,358 Y98C Het
Gstz1 A G 12: 87,147,830 M1V probably null Het
Hsd17b13 T G 5: 103,963,835 I281L probably benign Het
Hydin A G 8: 110,507,029 E1833G probably damaging Het
Irs1 G A 1: 82,287,961 Q845* probably null Het
Kctd11 C T 11: 69,880,057 G52R probably damaging Het
Kit T C 5: 75,654,489 S962P probably damaging Het
Lrrn1 C T 6: 107,566,994 probably benign Het
Mastl T C 2: 23,133,359 K451E probably damaging Het
Mptx2 A G 1: 173,274,789 V111A probably benign Het
Nuak2 G T 1: 132,327,841 C178F probably damaging Het
Pah G A 10: 87,538,185 R71H probably benign Het
Pclo C A 5: 14,712,871 T501K Het
Pla2g4e C T 2: 120,188,509 probably null Het
Polq A G 16: 37,027,910 E293G probably damaging Het
Rptor G A 11: 119,857,937 E782K probably benign Het
Scn7a T A 2: 66,675,974 R1524W probably damaging Het
Slc4a5 T C 6: 83,226,255 S46P probably benign Het
Srcap T A 7: 127,531,356 I664N probably damaging Het
Szt2 T C 4: 118,389,776 S881G probably damaging Het
Trim40 T C 17: 36,883,318 D161G probably benign Het
Trip11 T C 12: 101,894,384 H234R possibly damaging Het
Trpc1 T C 9: 95,721,381 K366R probably damaging Het
Ugt2b35 T C 5: 87,001,457 L189P probably damaging Het
Unc80 A G 1: 66,473,350 S140G probably benign Het
Wdr60 A G 12: 116,213,725 F811S probably damaging Het
Zfp446 A G 7: 12,977,958 E36G probably benign Het
Zfp738 T A 13: 67,670,789 H361L possibly damaging Het
Other mutations in Stk24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Stk24 APN 14 121302806 missense probably damaging 1.00
IGL02886:Stk24 APN 14 121292115 missense probably null 1.00
IGL03278:Stk24 APN 14 121302770 missense possibly damaging 0.88
Megatron UTSW 14 121308007 splice site probably benign
R0018:Stk24 UTSW 14 121308007 splice site probably benign
R1309:Stk24 UTSW 14 121302786 missense probably damaging 0.99
R1446:Stk24 UTSW 14 121308044 missense probably damaging 1.00
R1567:Stk24 UTSW 14 121308056 missense probably benign 0.00
R1673:Stk24 UTSW 14 121337571 missense probably damaging 1.00
R2131:Stk24 UTSW 14 121302211 missense probably damaging 1.00
R4302:Stk24 UTSW 14 121292082 missense probably benign 0.07
R4716:Stk24 UTSW 14 121294718 missense possibly damaging 0.85
R4865:Stk24 UTSW 14 121293454 nonsense probably null
R5381:Stk24 UTSW 14 121294233 missense possibly damaging 0.80
R5540:Stk24 UTSW 14 121294281 missense possibly damaging 0.69
R6017:Stk24 UTSW 14 121302245 missense probably benign 0.15
R6913:Stk24 UTSW 14 121302809 missense probably damaging 1.00
R7081:Stk24 UTSW 14 121294294 missense probably benign 0.01
R7251:Stk24 UTSW 14 121308022 missense probably damaging 1.00
R7586:Stk24 UTSW 14 121302287 missense probably damaging 0.99
R7587:Stk24 UTSW 14 121302287 missense probably damaging 0.99
R7771:Stk24 UTSW 14 121337633 missense probably damaging 1.00
R8528:Stk24 UTSW 14 121292035 missense probably benign 0.01
RF008:Stk24 UTSW 14 121294760 missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TAGTCACCTGCCTGGCTTAC -3'
(R):5'- AGTTCACTCCTGGTGCCATG -3'

Sequencing Primer
(F):5'- ACCTGCCTGGCTTACGGAAG -3'
(R):5'- TTGTAGAGTCTTCCCTCAGAGATC -3'
Posted On2020-07-28