Mutagenetix > Incidental Mutation

Incidental Mutation 'R9249:Stk25'

701398

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93548473-93581937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93552806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 328 (S328G)

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: S328G

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

SMART Domains

Protein: ENSMUSP00000027498
Gene: ENSMUSG00000026277
AA Change: S328G

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

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

probably benign
Transcript: ENSMUST00000186287

SMART Domains

Protein: ENSMUSP00000140396
Gene: ENSMUSG00000026277

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,220,165 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,733,690 (GRCm39)	F1650S	probably damaging	Het
Bscl2	A	T	19: 8,820,378 (GRCm39)	D133V	probably damaging	Het
Cacna1c	T	C	6: 118,590,288 (GRCm39)	Y1564C		Het
Ccdc182	T	C	11: 88,185,178 (GRCm39)	V86A	probably benign	Het
Cd44	T	G	2: 102,661,747 (GRCm39)	T616P	possibly damaging	Het
Cep152	C	T	2: 125,405,904 (GRCm39)	E1543K	probably benign	Het
Chpf2	C	A	5: 24,794,235 (GRCm39)	T135K	probably damaging	Het
Cntn4	C	T	6: 106,466,722 (GRCm39)	P208L	possibly damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Csmd2	C	A	4: 128,313,323 (GRCm39)	Y1333*	probably null	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dbndd2	T	C	2: 164,328,077 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,869,427 (GRCm39)	K280R	probably damaging	Het
Egfl8	C	A	17: 34,833,491 (GRCm39)	A133S	probably benign	Het
Fasn	T	C	11: 120,703,915 (GRCm39)	H1475R	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gzmd	T	G	14: 56,368,790 (GRCm39)	M35L	probably damaging	Het
Herc2	T	A	7: 55,762,890 (GRCm39)	L873Q	probably damaging	Het
Hsd3b6	T	C	3: 98,713,679 (GRCm39)	K207E	probably benign	Het
Ikbkb	T	A	8: 23,171,735 (GRCm39)	K171*	probably null	Het
Il21	T	A	3: 37,279,677 (GRCm39)		probably null	Het
Itga1	T	C	13: 115,185,834 (GRCm39)	N56S	probably damaging	Het
Map1lc3b	T	C	8: 122,322,833 (GRCm39)		probably null	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Myh3	C	T	11: 66,975,855 (GRCm39)	P296S	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	C	18: 44,479,265 (GRCm39)	V334A	probably benign	Het
Ncor2	T	C	5: 125,186,988 (GRCm39)	E12G	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nvl	A	G	1: 180,962,593 (GRCm39)	Y126H	probably damaging	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or5w1	A	T	2: 87,486,660 (GRCm39)	F202I	probably benign	Het
Or8g29-ps1	T	A	9: 39,200,602 (GRCm39)	N195Y	unknown	Het
Or8g36	A	T	9: 39,422,149 (GRCm39)	I289N	probably damaging	Het
Osbpl8	T	A	10: 111,122,012 (GRCm39)	D651E	probably benign	Het
Papola	T	A	12: 105,799,403 (GRCm39)	H677Q	probably benign	Het
Pcbp3	T	C	10: 76,635,377 (GRCm39)	S59G	probably benign	Het
Pkd1l2	T	A	8: 117,746,159 (GRCm39)	I1944F	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,143,084 (GRCm39)	N37K	probably benign	Het
Ppfia2	T	C	10: 106,749,429 (GRCm39)	V1105A	probably damaging	Het
Ric3	C	T	7: 108,647,212 (GRCm39)	D204N	probably damaging	Het
Scn8a	A	G	15: 100,914,456 (GRCm39)	D1154G	probably benign	Het
Sdk1	C	A	5: 142,129,550 (GRCm39)	N1590K	probably damaging	Het
Sec31a	C	A	5: 100,533,083 (GRCm39)	R163L	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3i	C	T	12: 104,231,728 (GRCm39)	Q122*	probably null	Het
Sgo2b	A	C	8: 64,391,407 (GRCm39)	Y153*	probably null	Het
Sgsm1	T	A	5: 113,428,201 (GRCm39)	H329L	possibly damaging	Het
Sh3tc2	A	C	18: 62,107,598 (GRCm39)	N203T	possibly damaging	Het
Skint8	C	A	4: 111,794,159 (GRCm39)	T183K	probably damaging	Het
Slc6a20a	T	C	9: 123,507,941 (GRCm39)		probably benign	Het
Slc8a2	T	C	7: 15,891,156 (GRCm39)	F732S	probably damaging	Het
Spata16	T	C	3: 26,787,030 (GRCm39)	V236A	possibly damaging	Het
Stard5	A	G	7: 83,281,253 (GRCm39)	D2G	probably damaging	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Tspan10	T	C	11: 120,337,051 (GRCm39)	F274L	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Vmn1r6	A	G	6: 56,979,760 (GRCm39)	R141G	probably benign	Het
Wdfy3	A	G	5: 101,996,359 (GRCm39)	S3168P	possibly damaging	Het
Zfp458	T	A	13: 67,405,218 (GRCm39)	H407L	probably damaging	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
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
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'- AATATAGCCCTAGGTCACAGGC -3'
(R):5'- AAATGCTGCAGCCTGGACAG -3'

Sequencing Primer
(F):5'- CTAGGTCACAGGCACTTTGGAG -3'
(R):5'- CAGAGTTCTGTCCACTGTCTAGG -3'

Posted On

2022-03-25