Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Stk3'

449499

Institutional Source

Beutler Lab

Gene Symbol

Stk3

Ensembl Gene

ENSMUSG00000022329

Gene Name

serine/threonine kinase 3

Synonyms

Ste20, 0610042I06Rik, Mst2, MST, mess1

MMRRC Submission

044055-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34875645-35155990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34959164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 336 (T336I)

Ref Sequence

ENSEMBL: ENSMUSP00000018476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018476] [ENSMUST00000067033] [ENSMUST00000226555]

AlphaFold

Q9JI10

Predicted Effect

probably damaging
Transcript: ENSMUST00000018476
AA Change: T336I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: T336I

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
S_TKc	27	278	4.16e-103	SMART
low complexity region	301	324	N/A	INTRINSIC
low complexity region	370	381	N/A	INTRINSIC
Pfam:Mst1_SARAH	443	490	9.6e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067033
AA Change: T266I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: T266I

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	5	205	2.1e-41	PFAM
Pfam:Pkinase	5	208	1.2e-56	PFAM
coiled coil region	217	256	N/A	INTRINSIC
low complexity region	300	311	N/A	INTRINSIC
Pfam:Mst1_SARAH	372	420	9.8e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128425

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226555
AA Change: T334I

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226730

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

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 activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous inactivation of this gene generally results in mice that are viable, fertile and developmentally normal. A small subset of mice homozygous for a knock-out allele develop mammary tumors in the absence of immunological defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,227,974 (GRCm39)		probably null	Het
Adamts20	A	C	15: 94,251,465 (GRCm39)	S441A	probably damaging	Het
Aen	T	A	7: 78,557,049 (GRCm39)	M299K	probably damaging	Het
Akap3	T	C	6: 126,842,796 (GRCm39)	S472P	probably benign	Het
Ank3	T	G	10: 69,658,087 (GRCm39)	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,622,955 (GRCm39)	D324G	probably benign	Het
Aste1	A	T	9: 105,280,614 (GRCm39)	R448S	probably benign	Het
Atp10a	T	A	7: 58,308,366 (GRCm39)	L55Q	probably benign	Het
C1qtnf9	G	A	14: 61,016,899 (GRCm39)	G143D	probably damaging	Het
Camsap2	A	G	1: 136,208,126 (GRCm39)	V1122A	probably benign	Het
Cbl	T	C	9: 44,145,076 (GRCm39)	H37R	probably damaging	Het
Cfap61	A	C	2: 145,971,069 (GRCm39)	D893A	probably benign	Het
Chd2	T	A	7: 73,128,463 (GRCm39)	I841F	probably damaging	Het
Chd9	A	G	8: 91,723,792 (GRCm39)	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,896,391 (GRCm39)	Y1028H	probably benign	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,030,511 (GRCm39)	I448V	probably benign	Het
Cyth1	T	A	11: 118,083,289 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 39,007,037 (GRCm39)	R324*	probably null	Het
Dhx37	C	A	5: 125,502,794 (GRCm39)	R42L	probably damaging	Het
Dock1	T	A	7: 134,365,662 (GRCm39)	V450E	probably damaging	Het
Ednrb	A	G	14: 104,058,313 (GRCm39)	L330P	probably damaging	Het
Eml4	T	A	17: 83,785,170 (GRCm39)	H778Q	probably damaging	Het
Evx1	T	A	6: 52,292,975 (GRCm39)	I227N	probably damaging	Het
G3bp1	T	A	11: 55,388,766 (GRCm39)	V326E	probably benign	Het
Gata2	T	C	6: 88,177,729 (GRCm39)	V253A	probably benign	Het
Gbp2	A	G	3: 142,339,138 (GRCm39)	N397D	probably damaging	Het
Gm14401	C	A	2: 176,778,696 (GRCm39)	H261N	probably benign	Het
Hacd4	A	T	4: 88,316,389 (GRCm39)	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,760,255 (GRCm39)	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ift27	A	T	15: 78,049,443 (GRCm39)	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Irs3	T	A	5: 137,642,821 (GRCm39)	S206C	probably damaging	Het
Lefty2	C	T	1: 180,720,716 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,590,921 (GRCm39)	I162V	probably damaging	Het
Matcap1	G	A	8: 106,008,755 (GRCm39)	Q421*	probably null	Het
Mefv	A	C	16: 3,533,910 (GRCm39)	D120E	probably damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mre11a	A	G	9: 14,710,953 (GRCm39)	I45V	probably benign	Het
Mtor	A	G	4: 148,620,993 (GRCm39)	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,460,144 (GRCm39)	M393R	probably benign	Het
Nod2	T	C	8: 89,391,267 (GRCm39)	S510P	possibly damaging	Het
Nos2	C	T	11: 78,819,405 (GRCm39)	T39I	probably benign	Het
Or2h1b	A	T	17: 37,462,690 (GRCm39)	Y58N	probably damaging	Het
Or5p54	T	A	7: 107,554,113 (GRCm39)	H88Q	probably benign	Het
Pcdh7	A	G	5: 57,878,970 (GRCm39)	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,145,676 (GRCm39)	V589A	probably damaging	Het
Plaa	A	C	4: 94,471,706 (GRCm39)	V10G	probably damaging	Het
Pprc1	T	A	19: 46,053,659 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,402,189 (GRCm39)	Y994C	probably damaging	Het
Ripply2	T	A	9: 86,897,943 (GRCm39)	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,395,839 (GRCm39)	D1227G	probably damaging	Het
Scoc	C	T	8: 84,164,260 (GRCm39)	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,745,099 (GRCm39)	I732N	probably damaging	Het
Six2	T	C	17: 85,995,092 (GRCm39)	K97E	probably damaging	Het
Slit2	A	C	5: 48,416,989 (GRCm39)	N1014H	probably damaging	Het
Smc1b	A	C	15: 84,973,866 (GRCm39)	L930R	probably damaging	Het
Spag16	T	A	1: 69,962,873 (GRCm39)	M340K	probably benign	Het
Spata31	C	T	13: 65,070,480 (GRCm39)	S876L	probably benign	Het
Spen	A	G	4: 141,199,154 (GRCm39)	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,012,363 (GRCm39)		probably null	Het
Tas2r118	T	A	6: 23,969,876 (GRCm39)	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,454,169 (GRCm39)	M212T	probably damaging	Het
Trpc7	A	G	13: 56,923,971 (GRCm39)	L738P	probably damaging	Het
Ttll8	A	G	15: 88,801,449 (GRCm39)	V413A	possibly damaging	Het
Usb1	G	A	8: 96,060,161 (GRCm39)		probably benign	Het
Vmn1r238	T	C	18: 3,123,168 (GRCm39)	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,529,599 (GRCm39)	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 41,765,932 (GRCm39)	P13H	probably benign	Het
Wdr26	A	G	1: 181,030,712 (GRCm39)	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,310,787 (GRCm39)	Q636*	probably null	Het
Zfyve26	A	G	12: 79,313,311 (GRCm39)	Y25H	probably benign	Het

Other mutations in Stk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Stk3	APN	15	35,114,768 (GRCm39)	missense	possibly damaging	0.93
IGL02133:Stk3	APN	15	35,099,662 (GRCm39)	missense	probably damaging	1.00
IGL03121:Stk3	APN	15	35,099,572 (GRCm39)	splice site	probably benign
IGL03309:Stk3	APN	15	35,099,697 (GRCm39)	splice site	probably benign
R0276:Stk3	UTSW	15	35,099,615 (GRCm39)	missense	probably damaging	1.00
R0416:Stk3	UTSW	15	35,114,778 (GRCm39)	missense	probably benign	0.07
R1352:Stk3	UTSW	15	35,008,371 (GRCm39)	missense	probably damaging	1.00
R1633:Stk3	UTSW	15	34,959,206 (GRCm39)	missense	probably damaging	1.00
R1638:Stk3	UTSW	15	35,008,454 (GRCm39)	splice site	probably null
R1917:Stk3	UTSW	15	35,073,363 (GRCm39)	missense	probably damaging	1.00
R1919:Stk3	UTSW	15	35,073,363 (GRCm39)	missense	probably damaging	1.00
R2011:Stk3	UTSW	15	35,072,644 (GRCm39)	missense	probably damaging	1.00
R2072:Stk3	UTSW	15	34,959,195 (GRCm39)	missense	possibly damaging	0.79
R2073:Stk3	UTSW	15	34,959,195 (GRCm39)	missense	possibly damaging	0.79
R2075:Stk3	UTSW	15	34,959,195 (GRCm39)	missense	possibly damaging	0.79
R3158:Stk3	UTSW	15	35,008,387 (GRCm39)	missense	possibly damaging	0.83
R3402:Stk3	UTSW	15	34,945,144 (GRCm39)	splice site	probably benign
R4633:Stk3	UTSW	15	34,959,074 (GRCm39)	missense	probably damaging	0.99
R4672:Stk3	UTSW	15	35,099,603 (GRCm39)	missense	probably benign	0.06
R4687:Stk3	UTSW	15	35,114,711 (GRCm39)	missense	probably damaging	0.99
R4825:Stk3	UTSW	15	35,000,054 (GRCm39)	missense	probably benign	0.14
R4903:Stk3	UTSW	15	34,959,212 (GRCm39)	missense	probably damaging	0.99
R5390:Stk3	UTSW	15	35,114,706 (GRCm39)	nonsense	probably null
R7208:Stk3	UTSW	15	35,073,262 (GRCm39)	missense	possibly damaging	0.76
R7266:Stk3	UTSW	15	34,959,182 (GRCm39)	missense	probably benign	0.05
R7862:Stk3	UTSW	15	35,115,732 (GRCm39)	missense	possibly damaging	0.90
R8354:Stk3	UTSW	15	34,876,870 (GRCm39)	missense	probably damaging	1.00
R8454:Stk3	UTSW	15	34,876,870 (GRCm39)	missense	probably damaging	1.00
R8996:Stk3	UTSW	15	34,945,208 (GRCm39)	missense	possibly damaging	0.51
R9160:Stk3	UTSW	15	35,099,611 (GRCm39)	missense	probably damaging	0.99
R9366:Stk3	UTSW	15	35,072,634 (GRCm39)	missense	probably damaging	1.00
R9777:Stk3	UTSW	15	35,114,791 (GRCm39)	missense	probably damaging	1.00
X0021:Stk3	UTSW	15	35,072,701 (GRCm39)	missense	probably damaging	1.00
X0060:Stk3	UTSW	15	35,114,679 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TATCCTGGTTTTCGTGAGTACAC -3'
(R):5'- GTTGCAAGGAATTCTAGAAAACACCC -3'

Sequencing Primer
(F):5'- GGTTTTCGTGAGTACACTTTCAAAAG -3'
(R):5'- CTGTTTGTCTTACAGGATGTGCAAC -3'

Posted On

2016-12-20