Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02712:Stk4'

304621

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stk4

Ensembl Gene

ENSMUSG00000018209

Gene Name

serine/threonine kinase 4

Synonyms

Ysk3, sterile 20-like kinase 1, Kas-2, Mst1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02712

Quality Score

Status

Chromosome

Chromosomal Location

164070322-164155524 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164096897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 228 (H228Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018353]

AlphaFold

Q9JI11

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 naï¿½ve 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8177:Stk4	UTSW	2	164088857	missense	probably damaging	0.99
R9076:Stk4	UTSW	2	164118065	missense	probably benign
R9378:Stk4	UTSW	2	164110216	intron	probably benign

Posted On

2015-04-16