Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Stk3'

560890

Institutional Source

Beutler Lab

Gene Symbol

Stk3

Ensembl Gene

ENSMUSG00000022329

Gene Name

serine/threonine kinase 3

Synonyms

Ste20, 0610042I06Rik, Mst2, MST, mess1

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34875645-35155990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35073262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 153 (L153I)

Ref Sequence

ENSEMBL: ENSMUSP00000018476 (fasta)

Gene Model

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

AlphaFold

Q9JI10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018476
AA Change: L153I

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: L153I

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: L83I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: L83I

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 damaging
Transcript: ENSMUST00000226555
AA Change: L151I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.4806

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,629 (GRCm39)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,074,885 (GRCm39)	Y309*	probably null	Het
Ache	G	A	5: 137,289,751 (GRCm39)	G360D	probably damaging	Het
Acot12	T	C	13: 91,929,361 (GRCm39)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 25,201,417 (GRCm39)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,758,081 (GRCm39)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,251,585 (GRCm39)	V48M	probably damaging	Het
Atm	A	T	9: 53,423,308 (GRCm39)		probably null	Het
B4galt4	T	A	16: 38,574,302 (GRCm39)	F92Y	probably damaging	Het
Brwd1	C	T	16: 95,837,159 (GRCm39)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm39)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,420,698 (GRCm39)	R351G	probably damaging	Het
Ccdc80	T	G	16: 44,917,073 (GRCm39)	S610A	probably benign	Het
Cdh20	C	A	1: 104,881,796 (GRCm39)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,255,383 (GRCm39)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,452,390 (GRCm39)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,814 (GRCm39)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,706,909 (GRCm39)		probably null	Het
Dmwd	C	T	7: 18,814,234 (GRCm39)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,647,988 (GRCm39)	V588A	unknown	Het
Dnai4	T	G	4: 102,923,549 (GRCm39)	I427L	probably benign	Het
Dtx4	C	T	19: 12,459,437 (GRCm39)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm39)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 27,803,446 (GRCm39)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,689,192 (GRCm39)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,980 (GRCm39)	K431T	probably damaging	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,439,948 (GRCm39)	N94S	probably benign	Het
Gvin2	A	C	7: 105,551,386 (GRCm39)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 120,162,620 (GRCm39)	G195W	probably damaging	Het
Hrc	A	T	7: 44,985,989 (GRCm39)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 26,409,665 (GRCm39)	Q863*	probably null	Het
Lemd2	G	A	17: 27,415,165 (GRCm39)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,773,172 (GRCm39)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,166,564 (GRCm39)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,286,387 (GRCm39)	T8A	unknown	Het
Mcm5	T	C	8: 75,848,344 (GRCm39)		probably null	Het
Med28	A	T	5: 45,680,794 (GRCm39)	D86V	probably damaging	Het
Mup11	A	G	4: 60,615,725 (GRCm39)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,370,542 (GRCm39)	F383L	probably benign	Het
Nid1	G	C	13: 13,642,970 (GRCm39)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm39)	V147A	probably benign	Het
Or12k8	A	G	2: 36,975,670 (GRCm39)	V30A	probably benign	Het
Pde9a	G	A	17: 31,639,258 (GRCm39)	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,411,826 (GRCm39)	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phf20l1	T	C	15: 66,476,638 (GRCm39)	I245T	probably benign	Het
Prmt8	C	T	6: 127,666,792 (GRCm39)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,355,430 (GRCm39)		probably null	Het
Prpf4b	T	A	13: 35,067,994 (GRCm39)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,617,416 (GRCm39)	L69P	probably damaging	Het
Robo3	A	T	9: 37,336,020 (GRCm39)	I482N	probably damaging	Het
Scara3	C	T	14: 66,168,715 (GRCm39)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,694,553 (GRCm39)	H397L	probably benign	Het
Skint11	T	A	4: 114,088,944 (GRCm39)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,396,536 (GRCm39)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,300,213 (GRCm39)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,576,643 (GRCm39)	K495E	probably benign	Het
Son	T	G	16: 91,458,990 (GRCm39)	D2072E	unknown	Het
Stau1	A	G	2: 166,805,494 (GRCm39)	V34A	probably damaging	Het
Swi5	A	T	2: 32,177,922 (GRCm39)	V13E	probably benign	Het
Syne2	A	T	12: 76,078,172 (GRCm39)		probably null	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tep1	T	A	14: 51,062,013 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,667,151 (GRCm39)	V149A	probably benign	Het
Tmem214	T	A	5: 31,028,065 (GRCm39)	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,778,114 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,525,071 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,038,948 (GRCm39)	I841T	probably damaging	Het
Wasf2	G	A	4: 132,923,045 (GRCm39)	V452I	probably damaging	Het
Wdr62	C	T	7: 29,951,761 (GRCm39)	D673N	probably damaging	Het
Wdr95	C	T	5: 149,518,836 (GRCm39)	T559I	probably benign	Het
Zbtb40	A	T	4: 136,726,937 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,051,856 (GRCm39)	E646G	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
R5834:Stk3	UTSW	15	34,959,164 (GRCm39)	missense	probably damaging	1.00
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'- ACGGCTTCTTCTGCATAAGAG -3'
(R):5'- ACTGTGTAAAGGGCAGGAATTTTG -3'

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

Posted On

2019-06-26