Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Stk25'

65813

Institutional Source

Beutler Lab

Gene Symbol

Stk25

Ensembl Gene

ENSMUSG00000026277

Gene Name

serine/threonine kinase 25 (yeast)

Synonyms

SOK-1, Ste20-like, 1500019J11Rik, Ysk1

MMRRC Submission

038478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0240 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

93548473-93581937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93554782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 131 (L131Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027498] [ENSMUST00000133769] [ENSMUST00000186287]

AlphaFold

Q9Z2W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027498
AA Change: L131Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027498
Gene: ENSMUSG00000026277
AA Change: L131Q

Domain	Start	End	E-Value	Type
S_TKc	20	270	2.92e-98	SMART
low complexity region	292	314	N/A	INTRINSIC
PDB:3W8H\|B	355	426	8e-43	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125778

Predicted Effect

probably damaging
Transcript: ENSMUST00000133769
AA Change: L131Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117765
Gene: ENSMUSG00000026277
AA Change: L131Q

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	233	1.7e-63	PFAM
Pfam:Pkinase_Tyr	20	233	2.1e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154008

Predicted Effect

probably benign
Transcript: ENSMUST00000186287

SMART Domains

Protein: ENSMUSP00000140396
Gene: ENSMUSG00000026277

Domain	Start	End	E-Value	Type
STYKc	20	107	1.9e-4	SMART

Meta Mutation Damage Score

0.9740

Coding Region Coverage

1x: 98.7%
3x: 97.3%
10x: 91.2%
20x: 69.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Germ line null mutants display normal cortical layers and neuronal migration. Acute loss of expression results in impaired neuronal migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,506,920 (GRCm39)	L71P	probably damaging	Het
Adamts2	A	T	11: 50,666,201 (GRCm39)	D399V	probably damaging	Het
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Ankrd27	T	A	7: 35,318,864 (GRCm39)	L585Q	probably damaging	Het
Atp7a	T	A	X: 105,153,447 (GRCm39)	N1117K	probably damaging	Het
Cacna1d	T	A	14: 29,818,926 (GRCm39)	M1210L	probably benign	Het
Cotl1	C	T	8: 120,567,063 (GRCm39)	W26*	probably null	Het
Csmd3	T	C	15: 47,492,635 (GRCm39)	T3000A	probably benign	Het
Ddhd2	A	T	8: 26,229,617 (GRCm39)		probably null	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,181,194 (GRCm39)	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,569,876 (GRCm39)	A359D	probably damaging	Het
Eif4g3	A	G	4: 137,897,873 (GRCm39)	K1025R	probably damaging	Het
Eml2	C	A	7: 18,918,797 (GRCm39)	Y82*	probably null	Het
Eml6	A	G	11: 29,742,367 (GRCm39)	V1057A	possibly damaging	Het
Espl1	T	C	15: 102,220,976 (GRCm39)	S911P	probably benign	Het
Flrt1	A	T	19: 7,074,475 (GRCm39)		probably benign	Het
G3bp1	G	A	11: 55,382,854 (GRCm39)	G139D	probably damaging	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Ganab	A	G	19: 8,890,177 (GRCm39)	D702G	possibly damaging	Het
Hdac10	T	C	15: 89,010,085 (GRCm39)	E291G	possibly damaging	Het
Hectd3	T	G	4: 116,859,810 (GRCm39)	V749G	probably damaging	Het
Kcnh1	T	A	1: 192,187,648 (GRCm39)	I703N	probably benign	Het
Kcnma1	G	A	14: 23,544,647 (GRCm39)	T505I	probably damaging	Het
Kctd11	A	G	11: 69,770,640 (GRCm39)	C133R	probably damaging	Het
Lama3	A	T	18: 12,672,880 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,017,335 (GRCm39)	L842P	probably damaging	Het
Lipk	G	A	19: 34,024,210 (GRCm39)	R336H	probably benign	Het
Lrrc24	T	A	15: 76,607,409 (GRCm39)	D58V	probably damaging	Het
Milr1	G	A	11: 106,645,722 (GRCm39)	W88*	probably null	Het
Mmp10	A	G	9: 7,506,544 (GRCm39)	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,391,600 (GRCm39)	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 165,896,320 (GRCm39)	T408A	probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nfasc	A	G	1: 132,529,721 (GRCm39)	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,161,941 (GRCm39)	V863A	probably benign	Het
Nos1	C	T	5: 118,005,948 (GRCm39)	P223S	probably benign	Het
Or13c7	T	A	4: 43,854,512 (GRCm39)	S68T	probably damaging	Het
Or4c108	A	T	2: 88,803,740 (GRCm39)	L165Q	probably damaging	Het
Or5an6	A	T	19: 12,372,327 (GRCm39)	E233D	probably benign	Het
Or8k41	A	G	2: 86,313,730 (GRCm39)	S119P	possibly damaging	Het
Otog	C	A	7: 45,913,456 (GRCm39)		probably null	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,031,051 (GRCm39)	T189I	possibly damaging	Het
Pcnx1	T	C	12: 81,993,792 (GRCm39)	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,697,309 (GRCm39)	W124R	probably damaging	Het
Phex	C	A	X: 155,969,214 (GRCm39)	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,940,363 (GRCm39)	D435E	probably benign	Het
Plce1	A	C	19: 38,717,330 (GRCm39)	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,324,045 (GRCm39)	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374 (GRCm39)	S421T	probably benign	Het
Ptprs	T	C	17: 56,743,087 (GRCm39)		probably null	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Rcc1	C	A	4: 132,060,226 (GRCm39)	G393V	probably damaging	Het
Reln	T	C	5: 22,311,043 (GRCm39)	N290S	probably benign	Het
Rhpn1	C	T	15: 75,585,971 (GRCm39)	T628I	probably benign	Het
Rnf224	T	C	2: 25,126,219 (GRCm39)	T45A	probably damaging	Het
Rpa1	A	G	11: 75,219,513 (GRCm39)	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,575,842 (GRCm39)	Q693H	probably benign	Het
Scn2a	G	T	2: 65,566,118 (GRCm39)	V1381F	probably benign	Het
Scp2	T	A	4: 107,955,275 (GRCm39)	H112L	probably benign	Het
Sdk1	T	C	5: 141,984,502 (GRCm39)	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651 (GRCm39)	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,285,008 (GRCm39)	I332N	probably benign	Het
Slc45a4	T	A	15: 73,453,755 (GRCm39)	E674D	probably benign	Het
Smpd3	T	C	8: 106,991,788 (GRCm39)	E255G	probably damaging	Het
Snx29	C	T	16: 11,478,417 (GRCm39)	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,762,256 (GRCm39)	M275K	probably benign	Het
Stac	T	C	9: 111,464,089 (GRCm39)	N59S	probably damaging	Het
Thbs1	C	A	2: 117,944,874 (GRCm39)	N229K	probably damaging	Het
Tmx2	A	T	2: 84,506,186 (GRCm39)	H89Q	probably damaging	Het
Trappc3l	A	T	10: 33,974,928 (GRCm39)	R119*	probably null	Het
Ublcp1	G	T	11: 44,349,104 (GRCm39)	Y243*	probably null	Het
Usp24	C	A	4: 106,271,601 (GRCm39)	C2158*	probably null	Het
Usp34	A	T	11: 23,383,206 (GRCm39)	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,200,925 (GRCm39)	S133C	probably damaging	Het
Vmn2r52	A	G	7: 9,893,327 (GRCm39)	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,525,061 (GRCm39)	K240E	probably benign	Het
Wdr13	T	G	X: 7,994,284 (GRCm39)	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734 (GRCm39)		probably null	Het
Zan	G	A	5: 137,396,624 (GRCm39)	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,055,383 (GRCm39)	R123L	possibly damaging	Het
Zfp318	C	T	17: 46,707,739 (GRCm39)	P266S	probably benign	Het

Other mutations in Stk25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Stk25	APN	1	93,551,145 (GRCm39)	splice site	probably null
IGL02952:Stk25	APN	1	93,553,798 (GRCm39)	missense	probably damaging	1.00
IGL03144:Stk25	APN	1	93,556,858 (GRCm39)	missense	probably damaging	1.00
ANU05:Stk25	UTSW	1	93,551,145 (GRCm39)	splice site	probably null
IGL02980:Stk25	UTSW	1	93,555,390 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Stk25	UTSW	1	93,552,346 (GRCm39)	missense	probably benign
R0240:Stk25	UTSW	1	93,554,782 (GRCm39)	missense	probably damaging	1.00
R0555:Stk25	UTSW	1	93,552,313 (GRCm39)	missense	probably benign	0.00
R1178:Stk25	UTSW	1	93,551,111 (GRCm39)	unclassified	probably benign
R1406:Stk25	UTSW	1	93,552,875 (GRCm39)	unclassified	probably benign
R1493:Stk25	UTSW	1	93,553,322 (GRCm39)	missense	probably benign	0.04
R2875:Stk25	UTSW	1	93,556,973 (GRCm39)	missense	possibly damaging	0.91
R4657:Stk25	UTSW	1	93,553,378 (GRCm39)	unclassified	probably benign
R4668:Stk25	UTSW	1	93,553,205 (GRCm39)	missense	probably damaging	1.00
R4686:Stk25	UTSW	1	93,551,142 (GRCm39)	splice site	probably null
R5089:Stk25	UTSW	1	93,552,330 (GRCm39)	missense	probably benign	0.05
R5493:Stk25	UTSW	1	93,563,031 (GRCm39)	missense	probably benign
R6013:Stk25	UTSW	1	93,553,181 (GRCm39)	critical splice donor site	probably null
R8723:Stk25	UTSW	1	93,553,666 (GRCm39)	missense	probably damaging	1.00
R8905:Stk25	UTSW	1	93,556,929 (GRCm39)	missense	probably damaging	1.00
R9249:Stk25	UTSW	1	93,552,806 (GRCm39)	missense	probably benign
R9274:Stk25	UTSW	1	93,552,806 (GRCm39)	missense	probably benign
X0063:Stk25	UTSW	1	93,553,683 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-19