Incidental Mutation 'R5123:Stk11'
| ID |
393406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk11
|
| Ensembl Gene |
ENSMUSG00000003068 |
| Gene Name |
serine/threonine kinase 11 |
| Synonyms |
Lkb1, Par-4 |
| MMRRC Submission |
042711-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5123 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79951637-79966516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79963775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 194
(V194I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000105371]
[ENSMUST00000144883]
[ENSMUST00000213772]
[ENSMUST00000170219]
[ENSMUST00000152592]
[ENSMUST00000147778]
[ENSMUST00000169546]
|
| AlphaFold |
Q9WTK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003152
AA Change: V320I
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068
AA Change: V320I
| 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 damaging
Transcript: ENSMUST00000105370
AA Change: V194I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068
AA Change: V194I
| 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 |
possibly damaging
Transcript: ENSMUST00000144883
AA Change: V320I
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068
AA Change: V320I
| 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 |
possibly damaging
Transcript: ENSMUST00000213772
AA Change: V320I
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (53/54) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,603,434 (GRCm39) |
G542D |
possibly damaging |
Het |
| Adh6b |
A |
G |
3: 138,063,450 (GRCm39) |
Y343C |
probably damaging |
Het |
| Adsl |
T |
A |
15: 80,836,495 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,057,630 (GRCm39) |
|
probably null |
Het |
| Atp6ap1l |
T |
A |
13: 91,047,017 (GRCm39) |
|
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,537,750 (GRCm39) |
D74G |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,411,696 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,104 (GRCm39) |
D544V |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,372,756 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,397 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,637 (GRCm39) |
D775G |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,879,408 (GRCm39) |
M16K |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,840,771 (GRCm39) |
Y281C |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,036,176 (GRCm39) |
L204Q |
possibly damaging |
Het |
| Filip1l |
A |
C |
16: 57,391,025 (GRCm39) |
I538L |
possibly damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,071,831 (GRCm39) |
V158D |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,309,449 (GRCm39) |
N162S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,353,651 (GRCm39) |
N575K |
probably benign |
Het |
| Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Igsf5 |
A |
G |
16: 96,174,279 (GRCm39) |
D103G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,726,569 (GRCm39) |
D297G |
possibly damaging |
Het |
| Net1 |
C |
T |
13: 3,936,623 (GRCm39) |
R314H |
probably damaging |
Het |
| Or4b1c |
C |
A |
2: 90,126,512 (GRCm39) |
R231L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,897 (GRCm39) |
V101D |
probably damaging |
Het |
| Pcsk4 |
C |
A |
10: 80,157,979 (GRCm39) |
Q586H |
probably null |
Het |
| Pramel11 |
A |
T |
4: 143,623,706 (GRCm39) |
M156K |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,440,131 (GRCm39) |
D156G |
possibly damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,259 (GRCm39) |
N266K |
probably damaging |
Het |
| Setd2 |
G |
T |
9: 110,446,595 (GRCm39) |
A2482S |
possibly damaging |
Het |
| Sgo2a |
A |
T |
1: 58,055,726 (GRCm39) |
S637C |
probably damaging |
Het |
| Slc2a5 |
C |
A |
4: 150,224,262 (GRCm39) |
S290* |
probably null |
Het |
| Spata6 |
T |
G |
4: 111,625,992 (GRCm39) |
H120Q |
possibly damaging |
Het |
| Tkt |
T |
C |
14: 30,287,603 (GRCm39) |
V199A |
probably benign |
Het |
| Traf3 |
G |
A |
12: 111,209,952 (GRCm39) |
V183M |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,966,437 (GRCm39) |
Y483C |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,785,215 (GRCm39) |
|
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,945,067 (GRCm39) |
H91R |
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,781,278 (GRCm39) |
S484G |
probably benign |
Het |
| Usp13 |
A |
T |
3: 32,969,947 (GRCm39) |
H691L |
probably benign |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,243 (GRCm39) |
Y57C |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,124 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,575,774 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp280b |
A |
G |
10: 75,875,183 (GRCm39) |
D354G |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,523 (GRCm39) |
H531R |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,158 (GRCm39) |
C517S |
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 |
|
|
R5188:Stk11
|
UTSW |
10 |
79,962,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Stk11
|
UTSW |
10 |
79,962,094 (GRCm39) |
missense |
probably benign |
0.13 |
|
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'- GCTATGGGTGTTAGGCTACC -3'
(R):5'- GAGTGCACAAAGTCACCAGC -3'
Sequencing Primer
(F):5'- GGTGTTAGGCTACCTCAAGC -3'
(R):5'- AGTCACCAGCTCCAGTAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation