Mutagenetix > Incidental Mutations

Incidental Mutation 'R3826:Stk11'

275418

Institutional Source

Beutler Lab

Gene Symbol

Stk11

Ensembl Gene

ENSMUSG00000003068

Gene Name

serine/threonine kinase 11

Synonyms

Par-4, Lkb1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80115803-80130682 bp(+) (GRCm38)

Type of Mutation

splice site (2503 bp from exon)

DNA Base Change (assembly)

T to C at 80127948 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003152] [ENSMUST00000105369] [ENSMUST00000105370] [ENSMUST00000105371] [ENSMUST00000144883] [ENSMUST00000147778] [ENSMUST00000152592] [ENSMUST00000169546] [ENSMUST00000170219] [ENSMUST00000213772]

Predicted Effect

probably damaging
Transcript: ENSMUST00000003152
AA Change: I322T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068
AA Change: I322T

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

Predicted Effect

probably null
Transcript: ENSMUST00000105369

SMART Domains

Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
transmembrane domain	41	63	N/A	INTRINSIC
low complexity region	185	197	N/A	INTRINSIC
low complexity region	269	277	N/A	INTRINSIC
low complexity region	380	388	N/A	INTRINSIC
low complexity region	402	420	N/A	INTRINSIC
low complexity region	444	484	N/A	INTRINSIC
low complexity region	515	534	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	627	651	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105370
AA Change: I196T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068
AA Change: I196T

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	180	2.8e-22	PFAM
Pfam:Pkinase	1	183	2.8e-40	PFAM
Pfam:Kinase-like	8	171	5.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144119

Predicted Effect

probably damaging
Transcript: ENSMUST00000144883
AA Change: I322T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068
AA Change: I322T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146180

Predicted Effect

probably benign
Transcript: ENSMUST00000147778

SMART Domains

Protein: ENSMUSP00000130389
Gene: ENSMUSG00000035640

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
transmembrane domain	43	65	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152592

SMART Domains

Protein: ENSMUSP00000118853
Gene: ENSMUSG00000003068

Domain	Start	End	E-Value	Type
Blast:S_TKc	1	53	6e-31	BLAST
PDB:2WTK\|F	1	74	1e-40	PDB
SCOP:d1koba_	1	89	1e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169546

SMART Domains

Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	192	204	N/A	INTRINSIC
low complexity region	276	284	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	409	427	N/A	INTRINSIC
low complexity region	451	491	N/A	INTRINSIC
low complexity region	522	541	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
low complexity region	634	658	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170219

SMART Domains

Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
transmembrane domain	41	63	N/A	INTRINSIC
low complexity region	185	197	N/A	INTRINSIC
low complexity region	269	277	N/A	INTRINSIC
low complexity region	380	388	N/A	INTRINSIC
low complexity region	402	420	N/A	INTRINSIC
low complexity region	444	484	N/A	INTRINSIC
low complexity region	515	534	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	627	651	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213772
AA Change: I322T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.1523

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,567,273	L377P	probably damaging	Het
Apc	C	A	18: 34,279,335	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,746,219		probably benign	Het
C130079G13Rik	T	A	3: 59,936,475	S197T	possibly damaging	Het
Ccr3	A	G	9: 124,029,677	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,317,645	V1015A	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960		probably benign	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cx3cl1	A	T	8: 94,777,306		probably benign	Het
Dhx37	T	C	5: 125,431,613	K86R	probably benign	Het
Dlec1	T	C	9: 119,143,061		probably benign	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
Fam234a	T	C	17: 26,218,189	E172G	probably benign	Het
Ffar2	A	T	7: 30,820,085	I10N	possibly damaging	Het
Gas2	T	C	7: 51,936,619		probably null	Het
Gm9573	A	G	17: 35,621,612		probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Grpel1	T	A	5: 36,469,483	N36K	probably benign	Het
Hgfac	C	A	5: 35,048,162	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,370,049	S377C	probably damaging	Het
Kcnq2	C	T	2: 181,104,900	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,915,868		probably null	Het
Lpcat1	T	C	13: 73,489,093	I114T	possibly damaging	Het
Mast4	G	T	13: 102,738,811	H1350N	probably damaging	Het
Mcts1	T	C	X: 38,602,568		probably benign	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Ncor2	T	C	5: 125,118,692		probably benign	Het
Olfr1015	C	T	2: 85,786,215	R235*	probably null	Het
Olfr1102	T	A	2: 87,002,044	I25K	probably damaging	Het
Olfr99	T	A	17: 37,280,249	Y57F	probably damaging	Het
Panx2	A	G	15: 89,068,461	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,412,417	T182N	probably damaging	Het
Pdha2	G	T	3: 141,211,128	F206L	possibly damaging	Het
Pgd	T	C	4: 149,166,004		probably benign	Het
Pgs1	C	T	11: 118,019,758		probably null	Het
Rere	T	C	4: 150,470,328	V161A	probably benign	Het
Rgs12	G	A	5: 34,966,015	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Rsph6a	T	C	7: 19,057,614	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,997,626		probably null	Het
Rubcnl	C	T	14: 75,032,225	L108F	possibly damaging	Het
Sap18b	T	C	8: 95,825,557	F65S	probably damaging	Het
Scap	A	G	9: 110,381,297	M925V	probably benign	Het
Slc7a8	A	G	14: 54,737,572	I200T	probably damaging	Het
Srrm3	A	G	5: 135,857,214	D336G	probably damaging	Het
Tiam2	C	G	17: 3,507,701		probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Trio	T	A	15: 27,833,070	K75N	probably damaging	Het
Tspan18	T	C	2: 93,220,108	I57V	probably benign	Het
Ube3b	C	A	5: 114,399,951	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,401,209	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,192,563	N88S	probably benign	Het
Zswim8	C	T	14: 20,711,089	R142*	probably null	Het

Other mutations in Stk11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02695:Stk11	APN	10	80125477	critical splice acceptor site	probably null
IGL03055:Stk11	UTSW	10	80128086	missense	probably damaging	1.00
R0450:Stk11	UTSW	10	80126086	missense	probably damaging	1.00
R0469:Stk11	UTSW	10	80126086	missense	probably damaging	1.00
R0501:Stk11	UTSW	10	80126285	missense	probably damaging	1.00
R3827:Stk11	UTSW	10	80127948	splice site	probably null
R3828:Stk11	UTSW	10	80127948	splice site	probably null
R3829:Stk11	UTSW	10	80127948	splice site	probably null
R4512:Stk11	UTSW	10	80126377	splice site	probably benign
R4515:Stk11	UTSW	10	80116601	unclassified	probably benign
R5123:Stk11	UTSW	10	80127941	missense	probably damaging	1.00
R5188:Stk11	UTSW	10	80126279	missense	probably damaging	1.00
R5341:Stk11	UTSW	10	80126260	missense	probably benign	0.13
R5540:Stk11	UTSW	10	80126049	missense	probably benign	0.00
R6856:Stk11	UTSW	10	80128090	missense	probably benign	0.01
R7213:Stk11	UTSW	10	80116618	start codon destroyed	probably null	0.05
R7792:Stk11	UTSW	10	80125437	intron	probably benign
R8289:Stk11	UTSW	10	80125906	unclassified	probably benign
R8299:Stk11	UTSW	10	80128033	missense	probably benign
Z1177:Stk11	UTSW	10	80128488	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTATGGGTGTTAGGCTACC -3'
(R):5'- GAGTGCACAAAGTCACCAGC -3'

Sequencing Primer
(F):5'- GGTGTTAGGCTACCTCAAGC -3'
(R):5'- AGTCACCAGCTCCAGTAGG -3'

Posted On

2015-04-02