Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Stk25'

45430

Institutional Source

Beutler Lab

Gene Symbol

Stk25

Ensembl Gene

ENSMUSG00000026277

Gene Name

serine/threonine kinase 25 (yeast)

Synonyms

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

MMRRC Submission

038747-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93619751-93658659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93624591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 356 (Q356K)

Ref Sequence

ENSEMBL: ENSMUSP00000027498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027498] [ENSMUST00000120301] [ENSMUST00000133769] [ENSMUST00000186287]

AlphaFold

Q9Z2W1

Predicted Effect

probably benign
Transcript: ENSMUST00000027498
AA Change: Q356K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027498
Gene: ENSMUSG00000026277
AA Change: Q356K

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

probably benign
Transcript: ENSMUST00000120301

SMART Domains

Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066

Domain	Start	End	E-Value	Type
B41	40	234	1.48e-66	SMART
FERM_C	238	328	3.29e-35	SMART
FA	332	378	1.13e-15	SMART
low complexity region	409	421	N/A	INTRINSIC
low complexity region	440	459	N/A	INTRINSIC
low complexity region	462	473	N/A	INTRINSIC
low complexity region	478	492	N/A	INTRINSIC
RhoGEF	542	728	1.57e-56	SMART
PH	759	857	1.45e-19	SMART
low complexity region	879	890	N/A	INTRINSIC
PH	931	1029	2.62e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125778

Predicted Effect

probably benign
Transcript: ENSMUST00000133769

SMART Domains

Protein: ENSMUSP00000117765
Gene: ENSMUSG00000026277

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

0.0928

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671		probably benign	Het
Asap1	A	G	15: 64,094,364	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147	R23C	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528	F632I	probably damaging	Het
Dnaic1	C	A	4: 41,625,335	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518		probably null	Het
Dync1li2	A	T	8: 104,420,665	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592		probably benign	Het
Eps8l3	C	A	3: 107,892,345	D590E	probably benign	Het
Etfdh	A	T	3: 79,605,805	H370Q	probably benign	Het
Fam83g	C	A	11: 61,707,663	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429		probably benign	Het
Gm17657	A	T	17: 29,519,571	F74I	probably benign	Het
Gnas	A	G	2: 174,298,511	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781		probably benign	Het
H2-M10.5	G	A	17: 36,774,728	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437		probably benign	Het
Ipo11	A	T	13: 106,892,461	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,225,789	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,847,571	S1027C	probably damaging	Het
Kprp	G	C	3: 92,824,357	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103		probably benign	Het
Mark4	A	C	7: 19,448,673		probably benign	Het
Mfsd14b	A	G	13: 65,078,445	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,161,453	I162N	possibly damaging	Het
Mrpl43	A	T	19: 45,005,952		probably benign	Het
Mrpl47	A	G	3: 32,736,693	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967	G380C	probably damaging	Het
Myo15	T	C	11: 60,521,638	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223		probably benign	Het
Neu3	A	G	7: 99,814,183	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684		probably null	Het
Nphp3	C	A	9: 104,023,434	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118		probably null	Het
Olfr292	A	G	7: 86,695,308	N284S	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr598	T	C	7: 103,328,963	V159A	probably benign	Het
Olfr791	T	C	10: 129,526,896	I223T	possibly damaging	Het
Pex1	A	G	5: 3,606,130	E319G	possibly damaging	Het
Phtf1	C	A	3: 104,004,469	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469	C421*	probably null	Het
Polk	A	C	13: 96,484,179	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758	T573A	probably benign	Het
Shb	A	G	4: 45,458,321	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410		probably null	Het
Sltm	T	C	9: 70,586,081	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413	M328K	probably damaging	Het
Svep1	T	A	4: 58,128,858	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744	A195T	probably damaging	Het
Tmem8	T	C	17: 26,117,114	L130S	probably benign	Het
Trcg1	C	T	9: 57,242,333	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090		probably benign	Het
Ttll4	A	G	1: 74,688,280	H827R	probably damaging	Het
Urgcp	T	C	11: 5,717,477	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937		probably benign	Het
Zcchc6	A	G	13: 59,800,317	V328A	probably benign	Het
Zfp292	T	C	4: 34,807,194	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520		probably benign	Het

Other mutations in Stk25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Stk25	APN	1	93623423	splice site	probably null
IGL02952:Stk25	APN	1	93626076	missense	probably damaging	1.00
IGL03144:Stk25	APN	1	93629136	missense	probably damaging	1.00
ANU05:Stk25	UTSW	1	93623423	splice site	probably null
IGL02980:Stk25	UTSW	1	93627668	missense	probably damaging	1.00
PIT4531001:Stk25	UTSW	1	93624624	missense	probably benign
R0240:Stk25	UTSW	1	93627060	missense	probably damaging	1.00
R0240:Stk25	UTSW	1	93627060	missense	probably damaging	1.00
R1178:Stk25	UTSW	1	93623389	unclassified	probably benign
R1406:Stk25	UTSW	1	93625153	unclassified	probably benign
R1493:Stk25	UTSW	1	93625600	missense	probably benign	0.04
R2875:Stk25	UTSW	1	93629251	missense	possibly damaging	0.91
R4657:Stk25	UTSW	1	93625656	unclassified	probably benign
R4668:Stk25	UTSW	1	93625483	missense	probably damaging	1.00
R4686:Stk25	UTSW	1	93623420	splice site	probably null
R5089:Stk25	UTSW	1	93624608	missense	probably benign	0.05
R5493:Stk25	UTSW	1	93635309	missense	probably benign
R6013:Stk25	UTSW	1	93625459	critical splice donor site	probably null
R8723:Stk25	UTSW	1	93625944	missense	probably damaging	1.00
R8905:Stk25	UTSW	1	93629207	missense	probably damaging	1.00
R9249:Stk25	UTSW	1	93625084	missense	probably benign
R9274:Stk25	UTSW	1	93625084	missense	probably benign
X0063:Stk25	UTSW	1	93625961	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAATCCTCAGGAAGCTGGACCC -3'
(R):5'- TCAGCTCCAAAGTGCCTGTGAC -3'

Sequencing Primer
(F):5'- GTGCATAACTAGCTGCAACAG -3'
(R):5'- TGGCACTGAACTATCTAGGAGTC -3'

Posted On

2013-06-11