Incidental Mutation 'IGL03278:Stk24'
ID415473
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? Possibly non essential (E-score: 0.412) question?
Stock #IGL03278
Quality Score
Status
Chromosome14
Chromosomal Location121286343-121380011 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121302770 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 139 (K139R)
Ref Sequence ENSEMBL: ENSMUSP00000078746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079817]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079817
AA Change: K139R

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: K139R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign 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
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
R8288:Stk24 UTSW 14 121293429 missense possibly damaging 0.47
R8528:Stk24 UTSW 14 121292035 missense probably benign 0.01
RF008:Stk24 UTSW 14 121294760 missense probably benign 0.17
Posted On2016-08-02