Incidental Mutation 'IGL02712:Stk4'
ID304621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk4
Ensembl Gene ENSMUSG00000018209
Gene Nameserine/threonine kinase 4
SynonymsYsk3, sterile 20-like kinase 1, Kas-2, Mst1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02712
Quality Score
Status
Chromosome2
Chromosomal Location164070322-164155524 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 164096897 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 228 (H228Q)
Ref Sequence ENSEMBL: ENSMUSP00000018353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018353]
Predicted Effect probably damaging
Transcript: ENSMUST00000018353
AA Change: H228Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018353
Gene: ENSMUSG00000018209
AA Change: H228Q

DomainStartEndE-ValueType
S_TKc 30 281 1.97e-104 SMART
low complexity region 311 326 N/A INTRINSIC
Pfam:Mst1_SARAH 433 480 2.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137866
SMART Domains Protein: ENSMUSP00000116745
Gene: ENSMUSG00000018209

DomainStartEndE-ValueType
Blast:S_TKc 2 26 8e-6 BLAST
PDB:3COM|B 2 26 4e-7 PDB
low complexity region 27 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153319
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele have low numbers of na�ve T cells that are hyper-responsive to stimulation. Mice homozygous for knock-out alleles exhibit decreased peripheral T cell numbers due to impaired emigration and homing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,722,839 probably benign Het
Arhgef33 T A 17: 80,360,373 V289D probably damaging Het
BC003331 A G 1: 150,386,356 probably null Het
Cabp5 A G 7: 13,403,346 M93V probably damaging Het
Ces1a A C 8: 93,036,040 V201G probably damaging Het
Cisd1 A G 10: 71,336,351 F34L probably benign Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Ddx39 A G 8: 83,721,757 I213V probably benign Het
Ddx59 A T 1: 136,439,781 N542I probably benign Het
Dytn T C 1: 63,664,422 T233A probably benign Het
Fbxo7 A G 10: 86,024,438 T49A possibly damaging Het
Fmnl2 C A 2: 53,036,498 probably benign Het
Golga2 G T 2: 32,304,213 K610N probably damaging Het
Hipk4 T C 7: 27,528,635 Y269H probably damaging Het
Ifi209 T C 1: 173,642,701 V285A possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map3k13 T G 16: 21,905,255 V329G probably damaging Het
Mrm3 T C 11: 76,243,857 W29R possibly damaging Het
Nos1ap T C 1: 170,329,251 I213V possibly damaging Het
Nphp4 C T 4: 152,556,275 T1033M probably damaging Het
Nr5a2 T C 1: 136,940,528 probably null Het
Nrcam A G 12: 44,573,827 Y885C probably damaging Het
Olfr23 T C 11: 73,940,930 V228A probably benign Het
Olfr983 T C 9: 40,092,786 H60R probably damaging Het
Ovgp1 T A 3: 105,986,513 probably benign Het
Pdzd2 T C 15: 12,376,027 S1341G probably benign Het
Pld2 T G 11: 70,557,079 L856R probably benign Het
Plod1 A G 4: 147,918,887 F494L possibly damaging Het
Pnkd T A 1: 74,349,868 S233T possibly damaging Het
Rnf144b T C 13: 47,239,779 I198T probably damaging Het
Rsc1a1 G T 4: 141,685,065 Q179K probably benign Het
Slc5a10 C T 11: 61,707,806 W249* probably null Het
Slc9a3r1 T C 11: 115,177,234 V200A possibly damaging Het
Spata32 T G 11: 103,208,147 probably benign Het
Szt2 T A 4: 118,384,833 Q1592L probably benign Het
Tnc T A 4: 63,975,256 I1598F probably damaging Het
Togaram2 A T 17: 71,704,754 D476V probably benign Het
Ttll6 T G 11: 96,139,775 probably benign Het
Vmn2r118 A G 17: 55,592,655 S750P probably benign Het
Zswim5 C T 4: 116,985,695 T879I probably damaging Het
Other mutations in Stk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Stk4 APN 2 164118079 missense probably benign 0.05
IGL01583:Stk4 APN 2 164074214 start codon destroyed probably null 0.21
IGL01933:Stk4 APN 2 164098585 unclassified probably benign
IGL02084:Stk4 APN 2 164086607 missense probably benign 0.05
IGL02423:Stk4 APN 2 164086499 missense probably benign 0.00
IGL02601:Stk4 APN 2 164086542 missense probably damaging 1.00
hallon UTSW 2 164099827 critical splice donor site probably null
iwo_jima UTSW 2 164088959 missense possibly damaging 0.94
ribeye UTSW 2 164079566 missense probably damaging 1.00
sergeant UTSW 2 164099712 missense probably benign
stryker UTSW 2 164083688 nonsense probably null
R0377:Stk4 UTSW 2 164096800 missense probably damaging 1.00
R0607:Stk4 UTSW 2 164098542 missense probably damaging 1.00
R1403:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1403:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1404:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1404:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1405:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1405:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1406:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1406:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1972:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1973:Stk4 UTSW 2 164100528 missense probably benign 0.04
R1976:Stk4 UTSW 2 164100528 missense probably benign 0.04
R2025:Stk4 UTSW 2 164096831 missense probably damaging 1.00
R3155:Stk4 UTSW 2 164151743 missense probably benign 0.01
R3732:Stk4 UTSW 2 164088908 missense probably benign 0.05
R3732:Stk4 UTSW 2 164088908 missense probably benign 0.05
R3733:Stk4 UTSW 2 164088908 missense probably benign 0.05
R3734:Stk4 UTSW 2 164088908 missense probably benign 0.05
R4288:Stk4 UTSW 2 164099712 missense probably benign
R4296:Stk4 UTSW 2 164117984 missense possibly damaging 0.69
R4360:Stk4 UTSW 2 164088959 missense possibly damaging 0.94
R4829:Stk4 UTSW 2 164099827 critical splice donor site probably null
R4954:Stk4 UTSW 2 164151681 missense possibly damaging 0.75
R4954:Stk4 UTSW 2 164151682 missense probably damaging 1.00
R5088:Stk4 UTSW 2 164083688 nonsense probably null
R5188:Stk4 UTSW 2 164088908 missense possibly damaging 0.85
R5283:Stk4 UTSW 2 164110279 nonsense probably null
R5554:Stk4 UTSW 2 164099725 missense probably benign
R5605:Stk4 UTSW 2 164079566 missense probably damaging 1.00
R5694:Stk4 UTSW 2 164100564 missense possibly damaging 0.87
R5711:Stk4 UTSW 2 164099754 missense probably benign 0.20
R7453:Stk4 UTSW 2 164086602 missense probably benign 0.01
R7698:Stk4 UTSW 2 164083743 missense probably damaging 1.00
R7726:Stk4 UTSW 2 164110226 start codon destroyed probably null
Posted On2015-04-16