Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Stk3'

212886

Institutional Source

Beutler Lab

Gene Symbol

Stk3

Ensembl Gene

ENSMUSG00000022329

Gene Name

serine/threonine kinase 3

Synonyms

mess1, MST, Mst2

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34875496-35178921 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35073217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 119 (T119I)

Ref Sequence

ENSEMBL: ENSMUSP00000018476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018476] [ENSMUST00000067033] [ENSMUST00000138841] [ENSMUST00000226555]

AlphaFold

Q9JI10

Predicted Effect

probably damaging
Transcript: ENSMUST00000018476
AA Change: T119I

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

SMART Domains

Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: T119I

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: T49I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: T49I

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: ENSMUST00000138841

Predicted Effect

probably benign
Transcript: ENSMUST00000226555
AA Change: T117I

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270 (GRCm38)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457 (GRCm38)	V105F	possibly damaging	Het
4932438A13Rik	A	G	3: 37,006,983 (GRCm38)		probably null	Het
Actr10	A	G	12: 70,942,330 (GRCm38)	I74M	probably benign	Het
Aen	T	C	7: 78,905,912 (GRCm38)	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920 (GRCm38)	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985 (GRCm38)	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007 (GRCm38)	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614 (GRCm38)	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140 (GRCm38)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971 (GRCm38)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,493,168 (GRCm38)	T70I	probably damaging	Het
Auh	G	A	13: 52,835,496 (GRCm38)	P308L	probably benign	Het
Bspry	T	A	4: 62,494,797 (GRCm38)	C256S	probably damaging	Het
C3	C	A	17: 57,220,135 (GRCm38)	W771C	probably damaging	Het
Camkv	A	G	9: 107,947,088 (GRCm38)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548 (GRCm38)	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917 (GRCm38)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777 (GRCm38)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696 (GRCm38)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359 (GRCm38)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278 (GRCm38)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319 (GRCm38)	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457 (GRCm38)	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172 (GRCm38)		probably null	Het
Dnaic1	T	C	4: 41,570,020 (GRCm38)		probably null	Het
Eml5	T	C	12: 98,798,839 (GRCm38)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm38)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm38)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520 (GRCm38)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684 (GRCm38)	T177I	probably damaging	Het
Gm12169	A	G	11: 46,528,531 (GRCm38)	D58G	possibly damaging	Het
Gm3604	G	T	13: 62,369,942 (GRCm38)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,333,190 (GRCm38)		probably null	Het
Gpatch8	A	G	11: 102,508,142 (GRCm38)		probably null	Het
H2-M3	T	C	17: 37,271,189 (GRCm38)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488 (GRCm38)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984 (GRCm38)	R117*	probably null	Het
Hrg	A	T	16: 22,954,457 (GRCm38)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953 (GRCm38)	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031 (GRCm38)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345 (GRCm38)		probably benign	Het
Krt90	A	T	15: 101,557,230 (GRCm38)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271 (GRCm38)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729 (GRCm38)	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012 (GRCm38)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643 (GRCm38)	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032 (GRCm38)	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125 (GRCm38)	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062 (GRCm38)	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031 (GRCm38)	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853 (GRCm38)	D90E	probably benign	Het
Nploc4	A	G	11: 120,404,229 (GRCm38)	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578 (GRCm38)	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598 (GRCm38)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110 (GRCm38)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180 (GRCm38)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547 (GRCm38)	V105A	possibly damaging	Het
Olfr791	T	A	10: 129,527,049 (GRCm38)	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117 (GRCm38)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017 (GRCm38)	S936P	probably damaging	Het
Pdzd3	T	C	9: 44,250,303 (GRCm38)	D93G	possibly damaging	Het
Phkb	A	G	8: 85,922,161 (GRCm38)	E202G	probably benign	Het
Pink1	T	C	4: 138,314,020 (GRCm38)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm38)	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858 (GRCm38)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738 (GRCm38)		probably null	Het
Rad54b	A	C	4: 11,601,693 (GRCm38)	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114 (GRCm38)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990 (GRCm38)	K645*	probably null	Het
Robo2	C	T	16: 73,899,154 (GRCm38)	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671 (GRCm38)	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712 (GRCm38)	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973 (GRCm38)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240 (GRCm38)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,980,079 (GRCm38)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,210,564 (GRCm38)	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920 (GRCm38)	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016 (GRCm38)		probably benign	Het
Spire2	A	G	8: 123,363,071 (GRCm38)	D447G	probably benign	Het
Sptlc3	A	G	2: 139,566,675 (GRCm38)	N237D	possibly damaging	Het
Suv39h2	G	A	2: 3,464,316 (GRCm38)	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279 (GRCm38)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084 (GRCm38)	D1253G	possibly damaging	Het
Tnks	A	T	8: 34,875,232 (GRCm38)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000 (GRCm38)	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842 (GRCm38)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,455,480 (GRCm38)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,687,580 (GRCm38)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010 (GRCm38)	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440 (GRCm38)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080 (GRCm38)	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414 (GRCm38)	N275K	probably damaging	Het

Other mutations in Stk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Stk3	APN	15	35,114,622 (GRCm38)	missense	possibly damaging	0.93
IGL02133:Stk3	APN	15	35,099,516 (GRCm38)	missense	probably damaging	1.00
IGL03121:Stk3	APN	15	35,099,426 (GRCm38)	splice site	probably benign
IGL03309:Stk3	APN	15	35,099,551 (GRCm38)	splice site	probably benign
R0276:Stk3	UTSW	15	35,099,469 (GRCm38)	missense	probably damaging	1.00
R0416:Stk3	UTSW	15	35,114,632 (GRCm38)	missense	probably benign	0.07
R1352:Stk3	UTSW	15	35,008,225 (GRCm38)	missense	probably damaging	1.00
R1633:Stk3	UTSW	15	34,959,060 (GRCm38)	missense	probably damaging	1.00
R1638:Stk3	UTSW	15	35,008,308 (GRCm38)	splice site	probably null
R1917:Stk3	UTSW	15	35,073,217 (GRCm38)	missense	probably damaging	1.00
R2011:Stk3	UTSW	15	35,072,498 (GRCm38)	missense	probably damaging	1.00
R2072:Stk3	UTSW	15	34,959,049 (GRCm38)	missense	possibly damaging	0.79
R2073:Stk3	UTSW	15	34,959,049 (GRCm38)	missense	possibly damaging	0.79
R2075:Stk3	UTSW	15	34,959,049 (GRCm38)	missense	possibly damaging	0.79
R3158:Stk3	UTSW	15	35,008,241 (GRCm38)	missense	possibly damaging	0.83
R3402:Stk3	UTSW	15	34,944,998 (GRCm38)	splice site	probably benign
R4633:Stk3	UTSW	15	34,958,928 (GRCm38)	missense	probably damaging	0.99
R4672:Stk3	UTSW	15	35,099,457 (GRCm38)	missense	probably benign	0.06
R4687:Stk3	UTSW	15	35,114,565 (GRCm38)	missense	probably damaging	0.99
R4825:Stk3	UTSW	15	34,999,908 (GRCm38)	missense	probably benign	0.14
R4903:Stk3	UTSW	15	34,959,066 (GRCm38)	missense	probably damaging	0.99
R5390:Stk3	UTSW	15	35,114,560 (GRCm38)	nonsense	probably null
R5834:Stk3	UTSW	15	34,959,018 (GRCm38)	missense	probably damaging	1.00
R7208:Stk3	UTSW	15	35,073,116 (GRCm38)	missense	possibly damaging	0.76
R7266:Stk3	UTSW	15	34,959,036 (GRCm38)	missense	probably benign	0.05
R7862:Stk3	UTSW	15	35,115,586 (GRCm38)	missense	possibly damaging	0.90
R8354:Stk3	UTSW	15	34,876,724 (GRCm38)	missense	probably damaging	1.00
R8454:Stk3	UTSW	15	34,876,724 (GRCm38)	missense	probably damaging	1.00
R8996:Stk3	UTSW	15	34,945,062 (GRCm38)	missense	possibly damaging	0.51
R9160:Stk3	UTSW	15	35,099,465 (GRCm38)	missense	probably damaging	0.99
R9366:Stk3	UTSW	15	35,072,488 (GRCm38)	missense	probably damaging	1.00
R9777:Stk3	UTSW	15	35,114,645 (GRCm38)	missense	probably damaging	1.00
X0021:Stk3	UTSW	15	35,072,555 (GRCm38)	missense	probably damaging	1.00
X0060:Stk3	UTSW	15	35,114,533 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCAACTTACTGTTAACTGGC -3'
(R):5'- CACTGTGTAAAGGGCAGGAATTTTG -3'

Sequencing Primer
(F):5'- TGTTAACTGGCCAGCCAC -3'
(R):5'- GGTAGCACATGCCTTTAATGCCAG -3'

Posted On

2014-07-14