Mutagenetix > Incidental Mutation

Incidental Mutation 'R8528:Stk24'

658906

Institutional Source

Beutler Lab

Gene Symbol

Stk24

Ensembl Gene

ENSMUSG00000063410

Gene Name

serine/threonine kinase 24

Synonyms

1810013H02Rik, STE20

MMRRC Submission

068498-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R8528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121523755-121617423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121529447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 402 (A402S)

Ref Sequence

ENSEMBL: ENSMUSP00000078746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079817]

AlphaFold

Q99KH8

Predicted Effect

probably benign
Transcript: ENSMUST00000079817
AA Change: A402S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000078746
Gene: ENSMUSG00000063410
AA Change: A402S

Domain	Start	End	E-Value	Type
S_TKc	24	274	3.18e-99	SMART
low complexity region	297	324	N/A	INTRINSIC
PDB:3W8H\|B	356	422	1e-20	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (40/40)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	C	15: 74,447,700 (GRCm39)	I169L	possibly damaging	Het
Ahnak	A	T	19: 8,985,092 (GRCm39)	K2125N	probably damaging	Het
Arl5b	T	A	2: 15,078,138 (GRCm39)		probably null	Het
Ccng2	T	C	5: 93,417,164 (GRCm39)	V60A	possibly damaging	Het
Cfap65	A	G	1: 74,945,096 (GRCm39)	V1442A	possibly damaging	Het
Cyp1b1	T	A	17: 80,017,993 (GRCm39)	E387D	probably damaging	Het
Dchs2	T	C	3: 83,261,918 (GRCm39)	S2729P	probably damaging	Het
Dnah11	A	G	12: 117,972,538 (GRCm39)	F2882S	probably damaging	Het
Dpy30	T	C	17: 74,606,757 (GRCm39)	D97G	probably benign	Het
Enam	T	A	5: 88,650,078 (GRCm39)	V454E	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Ero1b	T	A	13: 12,614,757 (GRCm39)	C240*	probably null	Het
Exog	A	G	9: 119,291,686 (GRCm39)	D297G	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fer1l5	A	G	1: 36,456,855 (GRCm39)	Y1611C	possibly damaging	Het
Firrm	T	C	1: 163,813,652 (GRCm39)	K191E	probably damaging	Het
Frmpd1	T	C	4: 45,285,034 (GRCm39)	V1285A	probably benign	Het
Gfpt1	G	C	6: 87,043,770 (GRCm39)		probably null	Het
Gm15446	T	C	5: 110,090,896 (GRCm39)	Y383H	possibly damaging	Het
Gsdmc	A	T	15: 63,649,189 (GRCm39)		probably null	Het
Hao1	A	G	2: 134,364,913 (GRCm39)	I238T	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kcnv2	T	A	19: 27,300,387 (GRCm39)	D79E	probably benign	Het
Lrrc8a	T	C	2: 30,145,557 (GRCm39)	Y124H	probably damaging	Het
Lrrc8d	T	A	5: 105,960,352 (GRCm39)	M254K	probably benign	Het
Map3k4	T	C	17: 12,451,821 (GRCm39)	N1489S	probably damaging	Het
Mapk8ip2	A	G	15: 89,339,422 (GRCm39)	D34G	probably damaging	Het
Myo9a	A	G	9: 59,767,423 (GRCm39)	T876A	probably damaging	Het
Pabpc2	C	T	18: 39,908,439 (GRCm39)	T568I	probably benign	Het
Pcdhga2	G	T	18: 37,802,221 (GRCm39)	A22S	probably benign	Het
Rc3h2	G	A	2: 37,272,811 (GRCm39)	T755I	probably benign	Het
Sertad4	A	G	1: 192,533,391 (GRCm39)	V15A	probably benign	Het
Slc28a2	A	G	2: 122,286,223 (GRCm39)	K520E	probably damaging	Het
Slc4a10	T	C	2: 62,127,140 (GRCm39)	V831A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag17	A	T	3: 100,031,501 (GRCm39)	I2255F	possibly damaging	Het
Sprn	C	T	7: 139,733,423 (GRCm39)		probably benign	Het
Stim1	T	C	7: 102,080,289 (GRCm39)		probably benign	Het
Sycp2	A	G	2: 178,016,326 (GRCm39)	L712P	probably damaging	Het
Tenm3	C	T	8: 48,795,668 (GRCm39)	G269S	probably damaging	Het
Zdbf2	A	G	1: 63,342,545 (GRCm39)	E308G	possibly damaging	Het
Zfp442	A	C	2: 150,250,962 (GRCm39)	H312Q	probably damaging	Het

Other mutations in Stk24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Stk24	APN	14	121,540,218 (GRCm39)	missense	probably damaging	1.00
IGL02886:Stk24	APN	14	121,529,527 (GRCm39)	missense	probably null	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
RF008:Stk24	UTSW	14	121,532,172 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGAACAAGACTTTTCCCTCAGG -3'
(R):5'- TCATACTGGGCCCTTGTCAG -3'

Sequencing Primer
(F):5'- TTTCCCTCAGGAGAAGCCCATG -3'
(R):5'- CCTTGTCAGCCTGGCATG -3'

Posted On

2021-01-18