Mutagenetix > Incidental Mutation

Incidental Mutation 'R5341:Stk11'

422341

Institutional Source

Beutler Lab

Gene Symbol

Stk11

Ensembl Gene

ENSMUSG00000003068

Gene Name

serine/threonine kinase 11

Synonyms

Lkb1, Par-4

MMRRC Submission

042920-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79951637-79966516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79962094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 83 (T83S)

Ref Sequence

ENSEMBL: ENSMUSP00000101009 (fasta)

Gene Model

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

AlphaFold

Q9WTK7

Predicted Effect

probably benign
Transcript: ENSMUST00000003152
AA Change: T209S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068
AA Change: T209S

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000105370
AA Change: T83S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068
AA Change: T83S

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 benign
Transcript: ENSMUST00000144883
AA Change: T209S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068
AA Change: T209S

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
AA Change: T209S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

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 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: 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 benign
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

Meta Mutation Damage Score

0.1042

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,223,236 (GRCm39)	D15G	unknown	Het
Actr5	C	A	2: 158,467,144 (GRCm39)	S28*	probably null	Het
Adcy1	A	C	11: 7,080,375 (GRCm39)	M373L	probably damaging	Het
Adcyap1r1	C	G	6: 55,455,054 (GRCm39)	F111L	probably benign	Het
Arid5b	A	T	10: 68,113,957 (GRCm39)	F27I	possibly damaging	Het
Art5	C	A	7: 101,747,306 (GRCm39)	V158L	probably benign	Het
Bora	T	A	14: 99,305,530 (GRCm39)	Y300N	probably damaging	Het
Cd300a	A	G	11: 114,784,288 (GRCm39)	T99A	probably damaging	Het
Cdon	A	G	9: 35,381,431 (GRCm39)	Y607C	probably damaging	Het
Cenatac	A	G	9: 44,328,406 (GRCm39)		probably null	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Cstdc7	A	G	18: 42,306,496 (GRCm39)	D21G	possibly damaging	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,534 (GRCm39)	E136G	possibly damaging	Het
Enox1	A	C	14: 77,815,096 (GRCm39)	T85P	possibly damaging	Het
Fanci	T	C	7: 79,055,926 (GRCm39)	L158P	probably damaging	Het
Gbgt1	C	A	2: 28,395,019 (GRCm39)	T219N	probably damaging	Het
Gulo	T	C	14: 66,225,707 (GRCm39)	D373G	probably benign	Het
Hivep2	C	A	10: 14,008,336 (GRCm39)	Q1645K	possibly damaging	Het
Iqce	A	C	5: 140,675,814 (GRCm39)	M114R	possibly damaging	Het
Lmbrd1	A	T	1: 24,785,892 (GRCm39)	K396*	probably null	Het
Lrrk2	A	T	15: 91,657,061 (GRCm39)	D1785V	probably damaging	Het
Matcap1	A	T	8: 106,011,687 (GRCm39)	M226K	probably damaging	Het
Mcmdc2	ATAAAAAAAAAGGAAAAATTACCTT	AT	1: 10,011,142 (GRCm39)		probably null	Het
Mepce	A	G	5: 137,781,522 (GRCm39)	V564A	probably damaging	Het
Mmp17	A	T	5: 129,679,193 (GRCm39)	D364V	possibly damaging	Het
Mrgpre	T	C	7: 143,335,246 (GRCm39)	N86D	probably benign	Het
Ms4a20	T	C	19: 11,087,745 (GRCm39)		probably benign	Het
Or2r11	A	T	6: 42,437,098 (GRCm39)	L285Q	probably damaging	Het
Or4f53	T	A	2: 111,087,982 (GRCm39)	I174K	probably damaging	Het
Pate11	A	T	9: 36,388,357 (GRCm39)	K61*	probably null	Het
Pax5	T	C	4: 44,697,630 (GRCm39)	D35G	probably damaging	Het
Pip5k1b	T	A	19: 24,281,440 (GRCm39)	T473S	probably benign	Het
Pkd2l2	A	G	18: 34,542,987 (GRCm39)		probably null	Het
Pygo2	C	A	3: 89,340,067 (GRCm39)	P155Q	probably damaging	Het
Rb1cc1	G	T	1: 6,285,266 (GRCm39)		probably benign	Het
Rbpj	A	G	5: 53,799,425 (GRCm39)	E80G	possibly damaging	Het
Sbno1	A	C	5: 124,546,538 (GRCm39)		probably null	Het
Slc1a1	T	A	19: 28,874,968 (GRCm39)	V182E	probably benign	Het
Slc34a3	A	T	2: 25,120,671 (GRCm39)	F419I	probably benign	Het
Snx8	A	G	5: 140,343,886 (GRCm39)	V62A	probably damaging	Het
Sp9	T	C	2: 73,104,858 (GRCm39)	S471P	possibly damaging	Het
Sspo	A	T	6: 48,436,549 (GRCm39)	S1270C	probably damaging	Het
Syt13	A	G	2: 92,783,897 (GRCm39)	E389G	probably benign	Het
Taf10	T	C	7: 105,390,139 (GRCm39)		probably benign	Het
Tgm1	A	T	14: 55,937,705 (GRCm39)	S801R	possibly damaging	Het
Thoc2l	A	T	5: 104,665,942 (GRCm39)	T155S	probably damaging	Het
Timeless	T	C	10: 128,083,047 (GRCm39)	F628L	possibly damaging	Het
Tmem171	G	T	13: 98,824,956 (GRCm39)	P225T	probably damaging	Het
Tspan12	A	T	6: 21,835,458 (GRCm39)	C72S	possibly damaging	Het
Txk	T	C	5: 72,853,964 (GRCm39)	T458A	probably benign	Het
Txndc9	A	G	1: 38,026,704 (GRCm39)		probably benign	Het
Uap1	C	A	1: 169,971,000 (GRCm39)	C464F	probably damaging	Het
Ugt2b36	A	T	5: 87,240,087 (GRCm39)	Y99*	probably null	Het
Usp35	T	C	7: 96,975,134 (GRCm39)	Y13C	probably damaging	Het
Vmn1r6	T	G	6: 56,979,789 (GRCm39)	N128K	probably damaging	Het
Vmn2r106	T	A	17: 20,497,788 (GRCm39)	I484L	probably benign	Het
Zdbf2	T	A	1: 63,347,092 (GRCm39)	S1824T	probably benign	Het
Zdhhc4	A	G	5: 143,311,915 (GRCm39)	V19A	probably benign	Het
Zfp955b	C	T	17: 33,524,095 (GRCm39)		probably benign	Het
Zfp97	T	A	17: 17,365,472 (GRCm39)	C324S	probably damaging	Het
Zswim8	G	A	14: 20,766,122 (GRCm39)	D803N	probably damaging	Het

Other mutations in Stk11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02695:Stk11	APN	10	79,961,311 (GRCm39)	critical splice acceptor site	probably null
IGL03055:Stk11	UTSW	10	79,963,920 (GRCm39)	missense	probably damaging	1.00
R0450:Stk11	UTSW	10	79,961,920 (GRCm39)	missense	probably damaging	1.00
R0469:Stk11	UTSW	10	79,961,920 (GRCm39)	missense	probably damaging	1.00
R0501:Stk11	UTSW	10	79,962,119 (GRCm39)	missense	probably damaging	1.00
R3826:Stk11	UTSW	10	79,963,782 (GRCm39)	splice site	probably null
R3827:Stk11	UTSW	10	79,963,782 (GRCm39)	splice site	probably null
R3828:Stk11	UTSW	10	79,963,782 (GRCm39)	splice site	probably null
R3829:Stk11	UTSW	10	79,963,782 (GRCm39)	splice site	probably null
R4512:Stk11	UTSW	10	79,962,211 (GRCm39)	splice site	probably benign
R4515:Stk11	UTSW	10	79,952,435 (GRCm39)	unclassified	probably benign
R5123:Stk11	UTSW	10	79,963,775 (GRCm39)	missense	probably damaging	1.00
R5188:Stk11	UTSW	10	79,962,113 (GRCm39)	missense	probably damaging	1.00
R5540:Stk11	UTSW	10	79,961,883 (GRCm39)	missense	probably benign	0.00
R6856:Stk11	UTSW	10	79,963,924 (GRCm39)	missense	probably benign	0.01
R7213:Stk11	UTSW	10	79,952,452 (GRCm39)	start codon destroyed	probably null	0.05
R7792:Stk11	UTSW	10	79,961,271 (GRCm39)	intron	probably benign
R8289:Stk11	UTSW	10	79,961,740 (GRCm39)	unclassified	probably benign
R8299:Stk11	UTSW	10	79,963,867 (GRCm39)	missense	probably benign
R8859:Stk11	UTSW	10	79,964,269 (GRCm39)	missense	probably benign
Z1177:Stk11	UTSW	10	79,964,322 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGCCAGGGCATTGTTCAC -3'
(R):5'- ATGTCCAACCTGCTAGCCAC -3'

Sequencing Primer
(F):5'- GGCATTGTTCACAAGGACATC -3'
(R):5'- CACACTGTGGGCAAAAAGGC -3'

Posted On

2016-08-04