Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Stk3'

654955

Institutional Source

Beutler Lab

Gene Symbol

Stk3

Ensembl Gene

ENSMUSG00000022329

Gene Name

serine/threonine kinase 3

Synonyms

mess1, MST, Mst2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34875496-35178921 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34876724 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 478 (A478T)

Ref Sequence

ENSEMBL: ENSMUSP00000018476 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000018476
AA Change: A478T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: A478T

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 benign
Transcript: ENSMUST00000067033
AA Change: A408T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: A408T

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

probably benign
Transcript: ENSMUST00000226555
AA Change: A476T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

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 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	Het

Other mutations in Stk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Stk3	APN	15	35114622	missense	possibly damaging	0.93
IGL02133:Stk3	APN	15	35099516	missense	probably damaging	1.00
IGL03121:Stk3	APN	15	35099426	splice site	probably benign
IGL03309:Stk3	APN	15	35099551	splice site	probably benign
R0276:Stk3	UTSW	15	35099469	missense	probably damaging	1.00
R0416:Stk3	UTSW	15	35114632	missense	probably benign	0.07
R1352:Stk3	UTSW	15	35008225	missense	probably damaging	1.00
R1633:Stk3	UTSW	15	34959060	missense	probably damaging	1.00
R1638:Stk3	UTSW	15	35008308	splice site	probably null
R1917:Stk3	UTSW	15	35073217	missense	probably damaging	1.00
R1919:Stk3	UTSW	15	35073217	missense	probably damaging	1.00
R2011:Stk3	UTSW	15	35072498	missense	probably damaging	1.00
R2072:Stk3	UTSW	15	34959049	missense	possibly damaging	0.79
R2073:Stk3	UTSW	15	34959049	missense	possibly damaging	0.79
R2075:Stk3	UTSW	15	34959049	missense	possibly damaging	0.79
R3158:Stk3	UTSW	15	35008241	missense	possibly damaging	0.83
R3402:Stk3	UTSW	15	34944998	splice site	probably benign
R4633:Stk3	UTSW	15	34958928	missense	probably damaging	0.99
R4672:Stk3	UTSW	15	35099457	missense	probably benign	0.06
R4687:Stk3	UTSW	15	35114565	missense	probably damaging	0.99
R4825:Stk3	UTSW	15	34999908	missense	probably benign	0.14
R4903:Stk3	UTSW	15	34959066	missense	probably damaging	0.99
R5390:Stk3	UTSW	15	35114560	nonsense	probably null
R5834:Stk3	UTSW	15	34959018	missense	probably damaging	1.00
R7208:Stk3	UTSW	15	35073116	missense	possibly damaging	0.76
R7266:Stk3	UTSW	15	34959036	missense	probably benign	0.05
R7862:Stk3	UTSW	15	35115586	missense	possibly damaging	0.90
R8354:Stk3	UTSW	15	34876724	missense	probably damaging	1.00
X0021:Stk3	UTSW	15	35072555	missense	probably damaging	1.00
X0060:Stk3	UTSW	15	35114533	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTGGAGACAACTGTAAAGTTTGC -3'
(R):5'- GGTGTGGCTCCTTCAGAAAAG -3'

Sequencing Primer
(F):5'- GAGACAACTGTAAAGTTTGCTTTTGG -3'
(R):5'- TTCTTGCTTTAATTGTTGACATGC -3'

Posted On

2020-10-20