Mutagenetix > Incidental Mutation

Incidental Mutation 'R4829:Stk4'

374485

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

042445-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4829 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

163916033-163997444 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 163941747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9JI11

Predicted Effect

probably null
Transcript: ENSMUST00000018353

SMART Domains

Protein: ENSMUSP00000018353
Gene: ENSMUSG00000018209

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 null
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

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,780 (GRCm39)	V1323A	probably damaging	Het
Abcb1a	T	C	5: 8,773,214 (GRCm39)	L814P	probably damaging	Het
Acat1	C	A	9: 53,502,756 (GRCm39)	G191V	probably damaging	Het
Acsbg3	A	G	17: 57,190,500 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,224,277 (GRCm39)	D1184E	probably benign	Het
Adss1	T	C	12: 112,601,147 (GRCm39)	L283P	probably damaging	Het
Arid4a	A	G	12: 71,070,272 (GRCm39)		probably null	Het
Arid4b	T	A	13: 14,359,023 (GRCm39)	D599E	probably benign	Het
AW146154	T	C	7: 41,130,057 (GRCm39)	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,204,216 (GRCm39)	R547S	possibly damaging	Het
Bcat1	A	T	6: 144,961,201 (GRCm39)	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,573,646 (GRCm39)		probably benign	Het
Catsperg2	T	G	7: 29,400,550 (GRCm39)	K268T	probably damaging	Het
Ccar1	A	C	10: 62,581,114 (GRCm39)	F1103L	unknown	Het
Ccdc141	T	A	2: 76,905,260 (GRCm39)	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,967,983 (GRCm39)	T16A	probably benign	Het
Cdca2	T	A	14: 67,931,202 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,420,952 (GRCm39)	I159V	probably damaging	Het
Cntn5	T	G	9: 9,976,288 (GRCm39)	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,448,413 (GRCm39)	A202E	unknown	Het
Csmd1	G	A	8: 16,177,310 (GRCm39)	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 54,028,895 (GRCm39)	A16V	possibly damaging	Het
Cspg4b	A	G	13: 113,504,696 (GRCm39)	I1942V	probably benign	Het
Dab2	A	G	15: 6,454,162 (GRCm39)	D224G	probably damaging	Het
Ddr1	A	T	17: 35,996,005 (GRCm39)	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,796,338 (GRCm39)	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,660,617 (GRCm39)	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,391,654 (GRCm39)	I81S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fat1	C	T	8: 45,489,199 (GRCm39)	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,312,020 (GRCm39)	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,651,662 (GRCm39)	M548L	probably benign	Het
Fstl5	T	C	3: 76,229,489 (GRCm39)	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,176,994 (GRCm39)	S481T	probably damaging	Het
Gp2	A	T	7: 119,056,407 (GRCm39)	V22E	possibly damaging	Het
Grin1	A	G	2: 25,208,736 (GRCm39)	S55P	possibly damaging	Het
Herc2	A	G	7: 55,756,240 (GRCm39)	D760G	probably benign	Het
Hpn	A	G	7: 30,798,300 (GRCm39)		probably benign	Het
Hsf2	T	C	10: 57,372,266 (GRCm39)	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,900,788 (GRCm39)	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,471,346 (GRCm39)	K57R	probably benign	Het
Klc1	T	C	12: 111,762,037 (GRCm39)	I569T	probably damaging	Het
Klra3	T	G	6: 130,300,579 (GRCm39)	K263N	probably benign	Het
Lrcol1	C	A	5: 110,502,393 (GRCm39)	H90N	probably benign	Het
Mamdc4	T	C	2: 25,455,368 (GRCm39)	E921G	possibly damaging	Het
Mark1	G	A	1: 184,637,724 (GRCm39)	R622W	possibly damaging	Het
Mdga1	A	G	17: 30,065,343 (GRCm39)	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtnr1a	T	C	8: 45,538,652 (GRCm39)		probably benign	Het
Myo5a	T	C	9: 75,043,689 (GRCm39)	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,257,147 (GRCm39)	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,164,010 (GRCm39)		probably null	Het
Nxph3	T	C	11: 95,402,321 (GRCm39)	E31G	probably benign	Het
Obscn	T	C	11: 58,945,072 (GRCm39)	I4649V	probably null	Het
Or10d4b	A	T	9: 39,534,734 (GRCm39)	H103L	probably damaging	Het
Or8b12b	G	T	9: 37,684,243 (GRCm39)	C96F	probably damaging	Het
Or8g35	A	T	9: 39,381,663 (GRCm39)	Y120N	probably damaging	Het
Or8h10	G	A	2: 86,808,918 (GRCm39)	S74L	probably damaging	Het
P3h3	G	A	6: 124,818,601 (GRCm39)		probably benign	Het
Pcnx2	A	T	8: 126,587,797 (GRCm39)		probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,097,224 (GRCm39)	S792P	probably damaging	Het
Plppr4	A	T	3: 117,129,240 (GRCm39)	L76M	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,709 (GRCm39)	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,519,939 (GRCm39)	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,181 (GRCm39)	S196L	probably benign	Het
Ptpn21	A	C	12: 98,655,555 (GRCm39)	S471A	probably damaging	Het
Ptprk	C	A	10: 28,456,480 (GRCm39)	S9*	probably null	Het
Rassf4	A	T	6: 116,622,103 (GRCm39)	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,104,034 (GRCm39)	R142S	probably damaging	Het
Rit2	C	A	18: 31,345,726 (GRCm39)	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,831,607 (GRCm39)	S187A	probably benign	Het
Rspo2	A	T	15: 42,956,583 (GRCm39)	Y83*	probably null	Het
Scn5a	C	T	9: 119,363,773 (GRCm39)	V456M	probably benign	Het
Scn9a	T	A	2: 66,382,057 (GRCm39)	H290L	probably benign	Het
Smarca4	T	C	9: 21,550,623 (GRCm39)	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612 (GRCm39)	I198K	probably damaging	Het
Smim14	G	A	5: 65,617,946 (GRCm39)		probably benign	Het
Spg11	A	C	2: 121,938,936 (GRCm39)	N339K	probably benign	Het
Spta1	A	G	1: 174,065,493 (GRCm39)	E2014G	probably benign	Het
Sypl1	C	T	12: 33,017,645 (GRCm39)	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,634,331 (GRCm39)	F138I	probably benign	Het
Tcstv4	G	A	13: 120,769,926 (GRCm39)	C82Y	possibly damaging	Het
Tet2	A	C	3: 133,182,381 (GRCm39)	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,905,668 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,197,067 (GRCm39)	T91S	possibly damaging	Het
Tnik	A	T	3: 28,593,690 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,685,974 (GRCm39)	I402F	probably benign	Het
Unc93b1	A	T	19: 3,994,293 (GRCm39)	S475C	probably damaging	Het
Utrn	T	A	10: 12,539,205 (GRCm39)	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,955,927 (GRCm39)		noncoding transcript	Het
Vmn2r101	G	A	17: 19,832,229 (GRCm39)	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,083,635 (GRCm39)	L3P	possibly damaging	Het
Zfp882	T	G	8: 72,668,233 (GRCm39)	H353Q	probably damaging	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
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
R7698:Stk4	UTSW	2	163,925,663 (GRCm39)	missense	probably damaging	1.00
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'- CAAACCGTGTCCATTGTTGTC -3'
(R):5'- CTAGGGGATGTCTCTGTCTCTC -3'

Sequencing Primer
(F):5'- GTCCACTTTGTTATTTAAGCACCCG -3'
(R):5'- GGGATGTCTCTGTCTCTCACTGTC -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R48290019_PCR_F: 5’- CAAACCGTGTCCATTGTTGTC-3’

R48290019_PCR_R: 5’- CTAGGGGATGTCTCTGTCTCTC-3’

Sequencing Primers

R48290019_SEQ_F: 5’- GTCCACTTTGTTATTTAAGCACCCG-3’ 

R48290019_SEQ_R: 5’- GGGATGTCTCTGTCTCTCACTGTC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 426 nucleotides is amplified (Chr2: 164099660-164100085; NCBI RefSeq: NC_000068):

caaaccgtgt ccattgttgt ccactttgtt atttaagcac ccgtttgtta agagtgccaa

aggagtgtca atattgcgag acttaattaa cgaagccatg gatgtgaaac tgaagcgcca

ggaagcccag cagcgggaag tggaccagga cgacgaggag aactcagtga gtggctgctc

tctgctgggt caggggtgtg tacttcttag gtctcgcttg ccacagaggt cagctgagta

gctggtgtag tcagctcttt gttgagtgcg gatggatctc attcagtgct gctgggctcc

gctgccgggg ctatgcttgc tctttgctca gtgtttcctt aaaacacatt ttgttatttc

ccctgtatca tttatccaga ttatctattt atttaagaga cagtgagaga cagagacatc

ccctag

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = T>C).

Posted On

2016-03-16