Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Stk25'

353648

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

041937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4686 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

93548473-93581937 bp(-) (GRCm39)

Type of Mutation

splice site (1444 bp from exon)

DNA Base Change (assembly)

A to G at 93551142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112725 (fasta)

Gene Model

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

AlphaFold

Q9Z2W1

PDB Structure

Crystal strucure of the DH domain of FARP2 [X-RAY DIFFRACTION]
Crystal strucure of the DH-PH-PH domain of FARP2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000027498
AA Change: V406A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027498
Gene: ENSMUSG00000026277
AA Change: V406A

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 null
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

0.0788

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		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
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
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

PCR Primer
(F):5'- CCCGAAAATGAGGGTCCAAC -3'
(R):5'- GTAGGTCTTCCAAGTCATCCAGG -3'

Sequencing Primer
(F):5'- GAGGGTCCAACCTTCATGCATAATTC -3'
(R):5'- GTCTTCCAAGTCATCCAGGTAAGATG -3'

Posted On

2015-10-21