Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Stk3'

607603

Institutional Source

Beutler Lab

Gene Symbol

Stk3

Ensembl Gene

ENSMUSG00000022329

Gene Name

serine/threonine kinase 3

Synonyms

Ste20, 0610042I06Rik, Mst2, MST, mess1

MMRRC Submission

045915-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7862 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34875645-35155990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35115732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 29 (V29A)

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: V29A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: V29A

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

SMART Domains

Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329

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

unknown
Transcript: ENSMUST00000138841
AA Change: V29A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226555
AA Change: V27A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,649,624 (GRCm39)	*181S	probably null	Het
Abcc10	G	T	17: 46,626,458 (GRCm39)	S661*	probably null	Het
Abtb2	C	T	2: 103,532,626 (GRCm39)	R475W	probably damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chaf1b	T	C	16: 93,684,983 (GRCm39)	M144T	possibly damaging	Het
Chd8	T	C	14: 52,451,734 (GRCm39)	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,807,836 (GRCm39)		probably null	Het
Cst12	T	C	2: 148,631,495 (GRCm39)	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,700,349 (GRCm39)	G93R	probably damaging	Het
Dhx34	C	A	7: 15,944,448 (GRCm39)	V589F	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,576,561 (GRCm39)	H6N	probably benign	Het
Dop1b	T	C	16: 93,546,851 (GRCm39)	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,770,851 (GRCm39)	R230Q	probably benign	Het
Ep300	T	G	15: 81,534,954 (GRCm39)	V2337G	probably damaging	Het
Fh1	A	T	1: 175,442,400 (GRCm39)	V150E	probably damaging	Het
Fkbp11	G	A	15: 98,624,389 (GRCm39)	R122*	probably null	Het
Fkbp5	C	T	17: 28,631,013 (GRCm39)	E251K	probably damaging	Het
Fmnl1	A	G	11: 103,071,756 (GRCm39)	K88E	probably damaging	Het
Frrs1	T	C	3: 116,685,529 (GRCm39)	V300A	possibly damaging	Het
Glud1	T	G	14: 34,047,479 (GRCm39)	L198V	possibly damaging	Het
Gsdmc	A	T	15: 63,649,845 (GRCm39)	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Haus2	T	A	2: 120,443,570 (GRCm39)	D75E	probably benign	Het
Hmcn1	A	T	1: 150,682,172 (GRCm39)	F459L	probably damaging	Het
Ighe	A	T	12: 113,235,428 (GRCm39)	V272E		Het
Iqgap1	C	T	7: 80,393,636 (GRCm39)	R647H	probably benign	Het
Jmy	T	C	13: 93,635,703 (GRCm39)	I38V	possibly damaging	Het
Kcnh1	G	T	1: 191,873,167 (GRCm39)		probably benign	Het
Kctd20	C	T	17: 29,181,849 (GRCm39)	A167V	probably damaging	Het
Klhl38	A	T	15: 58,178,395 (GRCm39)	V525E	probably damaging	Het
Krit1	A	G	5: 3,862,788 (GRCm39)	D259G	probably damaging	Het
Med1	A	T	11: 98,052,036 (GRCm39)	C443S	probably benign	Het
Mllt6	T	C	11: 97,556,631 (GRCm39)	V107A	probably benign	Het
Myl7	A	G	11: 5,847,157 (GRCm39)	M132T	probably benign	Het
Myo10	T	C	15: 25,666,522 (GRCm39)	V11A	probably damaging	Het
Nipbl	T	C	15: 8,355,236 (GRCm39)	I1642V	probably benign	Het
Or4a47	T	C	2: 89,665,468 (GRCm39)	T274A	probably benign	Het
Or6c214	T	C	10: 129,591,224 (GRCm39)	T32A	probably benign	Het
Or7g25	C	A	9: 19,160,736 (GRCm39)		probably benign	Het
Or8b3b	C	T	9: 38,584,624 (GRCm39)	V39M	probably benign	Het
Pcdhb2	C	T	18: 37,429,113 (GRCm39)	A362V	probably benign	Het
Pnp2	A	T	14: 51,201,016 (GRCm39)	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,403,530 (GRCm39)	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,265,476 (GRCm39)	D354G	probably damaging	Het
Rpap1	C	T	2: 119,605,893 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Shank3	A	G	15: 89,389,648 (GRCm39)	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,003,014 (GRCm39)	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,312,589 (GRCm39)	Y441C	probably damaging	Het
Sltm	G	T	9: 70,479,446 (GRCm39)	E193*	probably null	Het
Spag9	T	C	11: 94,002,892 (GRCm39)	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,025,351 (GRCm39)		probably null	Het
Tgfbr1	A	T	4: 47,403,489 (GRCm39)	I365F	probably damaging	Het
Thpo	C	T	16: 20,547,540 (GRCm39)	V24I	probably benign	Het
Tle1	A	C	4: 72,117,552 (GRCm39)	L36R	probably damaging	Het
Togaram2	T	C	17: 71,996,168 (GRCm39)	V57A	probably benign	Het
Ttll9	C	T	2: 152,848,895 (GRCm39)	A459V	probably benign	Het
Ush1c	T	C	7: 45,870,848 (GRCm39)	I330V	probably damaging	Het
Usp34	T	C	11: 23,414,718 (GRCm39)	M2906T		Het
Vmn2r28	A	T	7: 5,493,613 (GRCm39)	M111K	probably benign	Het
Vmn2r97	T	C	17: 19,167,416 (GRCm39)	C557R	probably damaging	Het
Zfp873	T	A	10: 81,896,109 (GRCm39)	I280K	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
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
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'- AGCTCTTGAATGTCTCTCAAGAG -3'
(R):5'- GGGCAGTTTGCTATACACCC -3'

Sequencing Primer
(F):5'- AGAGAACAAGAACGAACTTATTTGTC -3'
(R):5'- GGCAGTTTGCTATACACCCTTCATAG -3'

Posted On

2019-12-20