Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Stk11'

332867

Institutional Source

Beutler Lab

Gene Symbol

Stk11

Ensembl Gene

ENSMUSG00000003068

Gene Name

serine/threonine kinase 11

Synonyms

Par-4, Lkb1

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4515 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

80115803-80130682 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 80116601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003152] [ENSMUST00000105371] [ENSMUST00000144883] [ENSMUST00000213772]

AlphaFold

Q9WTK7

Predicted Effect

probably benign
Transcript: ENSMUST00000003152

SMART Domains

Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068

Domain	Start	End	E-Value	Type
S_TKc	49	309	1.28e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128992

Predicted Effect

probably benign
Transcript: ENSMUST00000144883

SMART Domains

Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068

Domain	Start	End	E-Value	Type
S_TKc	49	309	1.28e-80	SMART
low complexity region	396	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213772

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: This gene encodes a member of the serine/threonine kinase family. The encoded protein, a known tumor suppressor, activates (via phosphorylation) adenine monophosphate-activated protein kinase (AMPK) and AMPK-related kinase proteins. This upstream regulation of the AMPK pathway is thought to regulate a number of different processes, including cell metabolism, cell polarity, apoptosis and DNA damage response. Mutations in a similar gene in human have been associated with Peutz-Jeghers syndrome. Alternative splicing results in multiple transcript variants, including the S isoform which plays a potential role in spermiogenesis. [provided by RefSeq, Sep 2014]
PHENOTYPE: Targeted heterozygous mutants with one inactivated allele develop benign gastrointestinal polyps. Homozygous null mutant are embryonic lethal. Homozygotes for a hypomorphic allele survive and apparently normal, but male mice are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744 (GRCm38)	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363 (GRCm38)	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786 (GRCm38)		probably benign	Het
Atp8b3	C	T	10: 80,523,847 (GRCm38)	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078 (GRCm38)		probably null	Het
Ccdc88a	T	C	11: 29,482,651 (GRCm38)	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951 (GRCm38)	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904 (GRCm38)	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877 (GRCm38)	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090 (GRCm38)	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284 (GRCm38)	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536 (GRCm38)		probably null	Het
Copg1	A	G	6: 87,907,546 (GRCm38)		probably benign	Het
Dbn1	A	T	13: 55,476,229 (GRCm38)	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631 (GRCm38)	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387 (GRCm38)	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499 (GRCm38)	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972 (GRCm38)	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610 (GRCm38)	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571 (GRCm38)	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057 (GRCm38)	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809 (GRCm38)	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008 (GRCm38)	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830 (GRCm38)		probably null	Het
Hemgn	T	C	4: 46,396,477 (GRCm38)	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649 (GRCm38)	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257 (GRCm38)	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867 (GRCm38)	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474 (GRCm38)	T26A	unknown	Het
Macf1	T	C	4: 123,493,988 (GRCm38)	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938 (GRCm38)	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191 (GRCm38)	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393 (GRCm38)	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982 (GRCm38)		probably null	Het
Olfr954	C	T	9: 39,462,231 (GRCm38)	R264*	probably null	Het
Orc4	G	A	2: 48,937,489 (GRCm38)	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361 (GRCm38)	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379 (GRCm38)	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896 (GRCm38)	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725 (GRCm38)	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531 (GRCm38)	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838 (GRCm38)	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379 (GRCm38)	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160 (GRCm38)	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212 (GRCm38)	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958 (GRCm38)	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294 (GRCm38)	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468 (GRCm38)	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693 (GRCm38)		probably null	Het
Sipa1l2	T	C	8: 125,492,226 (GRCm38)	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530 (GRCm38)		probably null	Het
Tcaf3	A	G	6: 42,589,996 (GRCm38)	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161 (GRCm38)	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196 (GRCm38)	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356 (GRCm38)	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443 (GRCm38)		probably null	Het
Ugt1a10	T	A	1: 88,056,197 (GRCm38)	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213 (GRCm38)	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258 (GRCm38)	D548V	probably damaging	Het

Other mutations in Stk11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02695:Stk11	APN	10	80,125,477 (GRCm38)	critical splice acceptor site	probably null
IGL03055:Stk11	UTSW	10	80,128,086 (GRCm38)	missense	probably damaging	1.00
R0450:Stk11	UTSW	10	80,126,086 (GRCm38)	missense	probably damaging	1.00
R0469:Stk11	UTSW	10	80,126,086 (GRCm38)	missense	probably damaging	1.00
R0501:Stk11	UTSW	10	80,126,285 (GRCm38)	missense	probably damaging	1.00
R3826:Stk11	UTSW	10	80,127,948 (GRCm38)	splice site	probably null
R3827:Stk11	UTSW	10	80,127,948 (GRCm38)	splice site	probably null
R3828:Stk11	UTSW	10	80,127,948 (GRCm38)	splice site	probably null
R3829:Stk11	UTSW	10	80,127,948 (GRCm38)	splice site	probably null
R4512:Stk11	UTSW	10	80,126,377 (GRCm38)	splice site	probably benign
R5123:Stk11	UTSW	10	80,127,941 (GRCm38)	missense	probably damaging	1.00
R5188:Stk11	UTSW	10	80,126,279 (GRCm38)	missense	probably damaging	1.00
R5341:Stk11	UTSW	10	80,126,260 (GRCm38)	missense	probably benign	0.13
R5540:Stk11	UTSW	10	80,126,049 (GRCm38)	missense	probably benign	0.00
R6856:Stk11	UTSW	10	80,128,090 (GRCm38)	missense	probably benign	0.01
R7213:Stk11	UTSW	10	80,116,618 (GRCm38)	start codon destroyed	probably null	0.05
R7792:Stk11	UTSW	10	80,125,437 (GRCm38)	intron	probably benign
R8289:Stk11	UTSW	10	80,125,906 (GRCm38)	unclassified	probably benign
R8299:Stk11	UTSW	10	80,128,033 (GRCm38)	missense	probably benign
R8859:Stk11	UTSW	10	80,128,435 (GRCm38)	missense	probably benign
Z1177:Stk11	UTSW	10	80,128,488 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGAAGAATTGGCGCCCAG -3'
(R):5'- ATAAGGTCTCGGAGTCCAGC -3'

Sequencing Primer
(F):5'- AATTGGCGCCCAGGAAGC -3'
(R):5'- TCACCTTGCCGTACGAGC -3'

Posted On

2015-08-18