Incidental Mutation 'IGL02886:Stk24'
ID 363010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk24
Ensembl Gene ENSMUSG00000063410
Gene Name serine/threonine kinase 24
Synonyms 1810013H02Rik, STE20
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # IGL02886
Quality Score
Status
Chromosome 14
Chromosomal Location 121523755-121617423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121529527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 375 (L375Q)
Ref Sequence ENSEMBL: ENSMUSP00000078746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079817]
AlphaFold Q99KH8
Predicted Effect probably null
Transcript: ENSMUST00000079817
AA Change: L375Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: L375Q

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: 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,921,863 (GRCm39) C1140S probably damaging Het
Abhd12b T C 12: 70,229,740 (GRCm39) I238T possibly damaging Het
Adgrb3 T C 1: 25,543,991 (GRCm39) probably null Het
Baz2b A T 2: 59,788,087 (GRCm39) probably null Het
Brwd3 T C X: 107,794,454 (GRCm39) Y1410C probably damaging Het
Casp7 T A 19: 56,421,775 (GRCm39) I71N probably damaging Het
Cspg4 A T 9: 56,804,672 (GRCm39) I1828F probably damaging Het
Cul2 T C 18: 3,426,920 (GRCm39) probably benign Het
Efcab3 A G 11: 104,986,700 (GRCm39) D5409G possibly damaging Het
Fam187a A T 11: 102,777,380 (GRCm39) T395S probably benign Het
Fcgr2b A G 1: 170,793,297 (GRCm39) V244A possibly damaging Het
Fubp1 A G 3: 151,926,392 (GRCm39) E333G possibly damaging Het
Ganab G T 19: 8,888,391 (GRCm39) probably benign Het
Hpdl A G 4: 116,677,952 (GRCm39) S170P probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Klhl11 T C 11: 100,363,047 (GRCm39) S170G possibly damaging Het
Lrrc56 A G 7: 140,777,090 (GRCm39) probably benign Het
Lrrd1 T C 5: 3,901,534 (GRCm39) V613A probably benign Het
Myo1e T C 9: 70,276,055 (GRCm39) F757L probably benign Het
Myo5a T A 9: 75,059,169 (GRCm39) probably benign Het
Myocd T A 11: 65,069,569 (GRCm39) D837V probably damaging Het
Naip6 T C 13: 100,436,984 (GRCm39) Q513R possibly damaging Het
Nol4l A G 2: 153,371,457 (GRCm39) F76L probably benign Het
Or10ak7 T C 4: 118,792,027 (GRCm39) E6G probably benign Het
Or2b2b T A 13: 21,859,122 (GRCm39) probably benign Het
Or5b98 T A 19: 12,931,882 (GRCm39) S310T probably benign Het
Pck1 G A 2: 172,996,649 (GRCm39) E188K probably benign Het
Pdcd11 T C 19: 47,102,064 (GRCm39) V1083A possibly damaging Het
Primpol G A 8: 47,046,619 (GRCm39) Q226* probably null Het
Rbm15 A C 3: 107,233,611 (GRCm39) V959G probably benign Het
Rorb A G 19: 18,954,943 (GRCm39) probably null Het
Spata9 T C 13: 76,125,853 (GRCm39) L112P probably damaging Het
Svip A G 7: 51,655,509 (GRCm39) S11P possibly damaging Het
Taf13 T C 3: 108,488,500 (GRCm39) probably benign Het
Tex30 T C 1: 44,127,683 (GRCm39) Y7C probably damaging Het
Tmem68 T C 4: 3,569,361 (GRCm39) probably benign Het
Tnc T C 4: 63,918,344 (GRCm39) E1189G probably damaging Het
Top2b T C 14: 16,365,688 (GRCm38) S4P possibly damaging Het
Trav3-3 C A 14: 53,903,822 (GRCm39) L47I probably benign Het
Ttn G A 2: 76,733,557 (GRCm39) probably benign Het
Uroc1 A G 6: 90,323,811 (GRCm39) probably benign Het
Other mutations in Stk24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Stk24 APN 14 121,540,218 (GRCm39) missense probably damaging 1.00
IGL03278:Stk24 APN 14 121,540,182 (GRCm39) missense possibly damaging 0.88
Megatron UTSW 14 121,545,419 (GRCm39) splice site probably benign
R0018:Stk24 UTSW 14 121,545,419 (GRCm39) splice site probably benign
R1309:Stk24 UTSW 14 121,540,198 (GRCm39) missense probably damaging 0.99
R1446:Stk24 UTSW 14 121,545,456 (GRCm39) missense probably damaging 1.00
R1567:Stk24 UTSW 14 121,545,468 (GRCm39) missense probably benign 0.00
R1673:Stk24 UTSW 14 121,574,983 (GRCm39) missense probably damaging 1.00
R2131:Stk24 UTSW 14 121,539,623 (GRCm39) missense probably damaging 1.00
R4302:Stk24 UTSW 14 121,529,494 (GRCm39) missense probably benign 0.07
R4716:Stk24 UTSW 14 121,532,130 (GRCm39) missense possibly damaging 0.85
R4865:Stk24 UTSW 14 121,530,866 (GRCm39) nonsense probably null
R5381:Stk24 UTSW 14 121,531,645 (GRCm39) missense possibly damaging 0.80
R5540:Stk24 UTSW 14 121,531,693 (GRCm39) missense possibly damaging 0.69
R6017:Stk24 UTSW 14 121,539,657 (GRCm39) missense probably benign 0.15
R6913:Stk24 UTSW 14 121,540,221 (GRCm39) missense probably damaging 1.00
R7081:Stk24 UTSW 14 121,531,706 (GRCm39) missense probably benign 0.01
R7251:Stk24 UTSW 14 121,545,434 (GRCm39) missense probably damaging 1.00
R7586:Stk24 UTSW 14 121,539,699 (GRCm39) missense probably damaging 0.99
R7587:Stk24 UTSW 14 121,539,699 (GRCm39) missense probably damaging 0.99
R7771:Stk24 UTSW 14 121,575,045 (GRCm39) missense probably damaging 1.00
R8288:Stk24 UTSW 14 121,530,841 (GRCm39) missense possibly damaging 0.47
R8528:Stk24 UTSW 14 121,529,447 (GRCm39) missense probably benign 0.01
RF008:Stk24 UTSW 14 121,532,172 (GRCm39) missense probably benign 0.17
Posted On 2015-12-18