Incidental Mutation 'IGL01432:Stk24'
ID84152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk24
Ensembl Gene ENSMUSG00000063410
Gene Nameserine/threonine kinase 24
SynonymsSTE20, 1810013H02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.245) question?
Stock #IGL01432
Quality Score
Status
Chromosome14
Chromosomal Location121286343-121380011 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121302806 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 127 (E127V)
Ref Sequence ENSEMBL: ENSMUSP00000078746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079817]
Predicted Effect probably damaging
Transcript: ENSMUST00000079817
AA Change: E127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: E127V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227273
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 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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,003,759 V3166E possibly damaging Het
Aldh9a1 T C 1: 167,355,785 S191P probably damaging Het
Aldoart2 A T 12: 55,565,781 I164F probably damaging Het
Anapc1 C A 2: 128,633,408 A1384S probably damaging Het
Arid5a T G 1: 36,319,433 S429A possibly damaging Het
Asxl1 A G 2: 153,400,205 K892E probably benign Het
Bpnt1 G A 1: 185,354,021 W261* probably null Het
Calu A G 6: 29,356,553 D26G possibly damaging Het
Ccdc113 C T 8: 95,538,257 probably benign Het
Cd109 T C 9: 78,698,123 Y1003H probably benign Het
Cdh9 A G 15: 16,830,947 K290R probably damaging Het
Cep131 G A 11: 120,077,009 A140V possibly damaging Het
Chn1 A T 2: 73,631,752 C236S probably damaging Het
Cntn4 T A 6: 106,678,334 probably benign Het
Crispld1 A T 1: 17,746,801 Q194L probably benign Het
Csmd3 A G 15: 47,733,499 V1981A probably damaging Het
Cttn A G 7: 144,461,306 I55T probably damaging Het
Ddx46 G T 13: 55,638,022 probably benign Het
Diaph1 A T 18: 37,897,504 I299N unknown Het
Dll1 A G 17: 15,368,506 Y636H probably damaging Het
Eng A T 2: 32,669,532 Q111L possibly damaging Het
Exoc6 T C 19: 37,589,876 V389A possibly damaging Het
Fbxw26 T A 9: 109,717,975 T461S probably benign Het
Gbf1 T C 19: 46,279,995 Y1269H probably damaging Het
Gm10436 T C 12: 88,176,432 K139E probably benign Het
Gm5852 A G 3: 93,727,779 Y90H possibly damaging Het
Gnrhr C T 5: 86,182,193 G323R probably damaging Het
Gpr155 T A 2: 73,351,885 E661D possibly damaging Het
Grik4 A T 9: 42,521,176 C842S probably damaging Het
Iws1 A G 18: 32,083,466 probably benign Het
Kif5c A G 2: 49,701,077 T314A probably damaging Het
Klhdc1 A C 12: 69,251,977 K112T probably damaging Het
Kmt2a T C 9: 44,809,096 T3865A unknown Het
Lgr5 T C 10: 115,453,092 K477R probably damaging Het
Ly75 A T 2: 60,376,007 L106Q probably damaging Het
Mcph1 T A 8: 18,625,639 M26K probably damaging Het
Mettl2 T C 11: 105,126,522 V9A probably benign Het
Mgat5b A G 11: 116,973,376 D456G probably benign Het
Mstn A G 1: 53,066,530 T344A possibly damaging Het
Npr1 T A 3: 90,463,236 I308F possibly damaging Het
Oasl1 G A 5: 114,937,407 V509M probably benign Het
Obscn T C 11: 59,033,757 M5727V probably benign Het
Olfr1219 T A 2: 89,074,201 I297F probably benign Het
Olfr262 A G 19: 12,241,527 S45P probably damaging Het
Olfr710 T C 7: 106,944,541 I153M possibly damaging Het
Olfr726 T A 14: 50,083,947 T245S probably benign Het
Pcgf1 T C 6: 83,078,417 I11T possibly damaging Het
Phactr3 T C 2: 178,283,100 V276A probably benign Het
Pla2g6 A T 15: 79,317,968 M1K probably null Het
Plec T C 15: 76,190,528 E413G probably damaging Het
Plxna2 G T 1: 194,644,318 A187S possibly damaging Het
Polq A T 16: 37,071,822 probably benign Het
Prss39 A G 1: 34,502,135 D240G probably benign Het
Ptpn12 A T 5: 20,998,555 Y408* probably null Het
Ptprt A G 2: 162,268,079 probably benign Het
Rnf6 A T 5: 146,216,121 S95T possibly damaging Het
Ryr2 T C 13: 11,851,204 S287G possibly damaging Het
Samd4b A G 7: 28,414,066 F158S possibly damaging Het
Slco1a5 T A 6: 142,236,286 I571L possibly damaging Het
Smchd1 T C 17: 71,431,290 T527A probably damaging Het
Smg9 T C 7: 24,421,266 probably null Het
Snx25 A G 8: 46,105,160 L270P probably damaging Het
Ssh1 G T 5: 113,958,822 T165N probably benign Het
Suco A G 1: 161,834,120 V914A probably damaging Het
Tbcd T A 11: 121,475,680 probably benign Het
Tbcel A T 9: 42,444,521 L114Q possibly damaging Het
Trpm1 A G 7: 64,235,019 D816G probably benign Het
Uhrf1 G A 17: 56,318,250 V566M probably damaging Het
Ulk4 T A 9: 121,266,301 E95D probably damaging Het
Vmn1r40 T C 6: 89,714,219 M6T probably benign Het
Vmn2r59 C T 7: 42,012,559 V611I possibly damaging Het
Vwde G T 6: 13,193,240 H367N probably benign Het
Wdr66 A G 5: 123,279,952 I81M possibly damaging Het
Xpo6 A G 7: 126,124,381 V585A probably benign Het
Other mutations in Stk24
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
RF008:Stk24 UTSW 14 121294760 missense probably benign 0.17
Posted On2013-11-11