Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Stk4'

593761

Institutional Source

Beutler Lab

Gene Symbol

Stk4

Ensembl Gene

ENSMUSG00000018209

Gene Name

serine/threonine kinase 4

Synonyms

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

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163916033-163997444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163925663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 77 (M77T)

Ref Sequence

ENSEMBL: ENSMUSP00000018353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018353] [ENSMUST00000134078]

AlphaFold

Q9JI11

Predicted Effect

probably damaging
Transcript: ENSMUST00000018353
AA Change: M77T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018353
Gene: ENSMUSG00000018209
AA Change: M77T

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 damaging
Transcript: ENSMUST00000134078
AA Change: M76T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122440
Gene: ENSMUSG00000018209
AA Change: M76T

Domain	Start	End	E-Value	Type
Pfam:Pkinase	29	113	7.2e-22	PFAM
Pfam:Pkinase_Tyr	29	113	1.1e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	Het

Other mutations in Stk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Stk4	APN	2	163,959,999 (GRCm39)	missense	probably benign	0.05
IGL01583:Stk4	APN	2	163,916,134 (GRCm39)	start codon destroyed	probably null	0.21
IGL01933:Stk4	APN	2	163,940,505 (GRCm39)	unclassified	probably benign
IGL02084:Stk4	APN	2	163,928,527 (GRCm39)	missense	probably benign	0.05
IGL02423:Stk4	APN	2	163,928,419 (GRCm39)	missense	probably benign	0.00
IGL02601:Stk4	APN	2	163,928,462 (GRCm39)	missense	probably damaging	1.00
IGL02712:Stk4	APN	2	163,938,817 (GRCm39)	missense	probably damaging	1.00
hallon	UTSW	2	163,941,747 (GRCm39)	critical splice donor site	probably null
iwo_jima	UTSW	2	163,930,879 (GRCm39)	missense	possibly damaging	0.94
ribeye	UTSW	2	163,921,486 (GRCm39)	missense	probably damaging	1.00
Sergeant	UTSW	2	163,941,632 (GRCm39)	missense	probably benign
stryker	UTSW	2	163,925,608 (GRCm39)	nonsense	probably null
R0377:Stk4	UTSW	2	163,938,720 (GRCm39)	missense	probably damaging	1.00
R0607:Stk4	UTSW	2	163,940,462 (GRCm39)	missense	probably damaging	1.00
R1403:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1403:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1404:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1404:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1405:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1405:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1406:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1406:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1972:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1973:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R1976:Stk4	UTSW	2	163,942,448 (GRCm39)	missense	probably benign	0.04
R2025:Stk4	UTSW	2	163,938,751 (GRCm39)	missense	probably damaging	1.00
R3155:Stk4	UTSW	2	163,993,663 (GRCm39)	missense	probably benign	0.01
R3732:Stk4	UTSW	2	163,930,828 (GRCm39)	missense	probably benign	0.05
R3732:Stk4	UTSW	2	163,930,828 (GRCm39)	missense	probably benign	0.05
R3733:Stk4	UTSW	2	163,930,828 (GRCm39)	missense	probably benign	0.05
R3734:Stk4	UTSW	2	163,930,828 (GRCm39)	missense	probably benign	0.05
R4288:Stk4	UTSW	2	163,941,632 (GRCm39)	missense	probably benign
R4296:Stk4	UTSW	2	163,959,904 (GRCm39)	missense	possibly damaging	0.69
R4360:Stk4	UTSW	2	163,930,879 (GRCm39)	missense	possibly damaging	0.94
R4829:Stk4	UTSW	2	163,941,747 (GRCm39)	critical splice donor site	probably null
R4954:Stk4	UTSW	2	163,993,602 (GRCm39)	missense	probably damaging	1.00
R4954:Stk4	UTSW	2	163,993,601 (GRCm39)	missense	possibly damaging	0.75
R5088:Stk4	UTSW	2	163,925,608 (GRCm39)	nonsense	probably null
R5188:Stk4	UTSW	2	163,930,828 (GRCm39)	missense	possibly damaging	0.85
R5283:Stk4	UTSW	2	163,952,199 (GRCm39)	nonsense	probably null
R5554:Stk4	UTSW	2	163,941,645 (GRCm39)	missense	probably benign
R5605:Stk4	UTSW	2	163,921,486 (GRCm39)	missense	probably damaging	1.00
R5694:Stk4	UTSW	2	163,942,484 (GRCm39)	missense	possibly damaging	0.87
R5711:Stk4	UTSW	2	163,941,674 (GRCm39)	missense	probably benign	0.20
R7453:Stk4	UTSW	2	163,928,522 (GRCm39)	missense	probably benign	0.01
R7726:Stk4	UTSW	2	163,952,146 (GRCm39)	start codon destroyed	probably null
R8177:Stk4	UTSW	2	163,930,777 (GRCm39)	missense	probably damaging	0.99
R9076:Stk4	UTSW	2	163,959,985 (GRCm39)	missense	probably benign
R9378:Stk4	UTSW	2	163,952,136 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGATCATGGCAGCACTTCC -3'
(R):5'- CCTCTAAAAGGTCTGACTGATGAAGG -3'

Sequencing Primer
(F):5'- GTAATTCATGCGATTGTGCCACAC -3'
(R):5'- GGTCTGACTGATGAAGGAAATATAC -3'

Posted On

2019-11-12