Incidental Mutation 'IGL03055:Stk11'
| ID |
453393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk11
|
| Ensembl Gene |
ENSMUSG00000003068 |
| Gene Name |
serine/threonine kinase 11 |
| Synonyms |
Lkb1, Par-4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03055 (G1)
|
| Quality Score |
106 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79951637-79966516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79963920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 96
(D96A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000105371]
[ENSMUST00000152592]
[ENSMUST00000144883]
[ENSMUST00000213772]
[ENSMUST00000170219]
[ENSMUST00000147778]
[ENSMUST00000169546]
|
| AlphaFold |
Q9WTK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003152
AA Change: D368A
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068
AA Change: D368A
| 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: D242A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068
AA Change: D242A
| 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: ENSMUST00000132317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144108
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152592
AA Change: D96A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118853
Gene: ENSMUSG00000003068
AA Change: D96A
| 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 |
noncoding transcript
Transcript: ENSMUST00000144119
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144883
AA Change: D368A
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068
AA Change: D368A
| 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: D368A
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
| 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: 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 |
0.1870 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900041M22Rik |
T |
A |
11: 117,503,072 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,092 (GRCm39) |
S40R |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,345,882 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,837,516 (GRCm39) |
M406K |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,817,054 (GRCm39) |
D102E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Clec16a |
T |
A |
16: 10,559,645 (GRCm39) |
S973T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,145,515 (GRCm39) |
Y1471H |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,697 (GRCm39) |
Y3489C |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,191,211 (GRCm39) |
E464G |
probably damaging |
Het |
| Enpp2 |
C |
A |
15: 54,729,481 (GRCm39) |
|
probably null |
Het |
| Erich2 |
G |
T |
2: 70,339,529 (GRCm39) |
C28F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,493,883 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gfral |
T |
A |
9: 76,115,831 (GRCm39) |
T48S |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,557,836 (GRCm39) |
E293G |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,288,792 (GRCm39) |
N3691K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nefm |
T |
C |
14: 68,360,358 (GRCm39) |
T371A |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,778,308 (GRCm39) |
C3F |
probably benign |
Het |
| Nol4l |
G |
C |
2: 153,278,190 (GRCm39) |
|
silent |
Het |
| Nprl3 |
C |
A |
11: 32,198,230 (GRCm39) |
|
probably benign |
Het |
| Or52p1 |
A |
T |
7: 104,267,413 (GRCm39) |
I176F |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,523,069 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,879 (GRCm39) |
K128R |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,375,533 (GRCm39) |
L1329P |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,647,370 (GRCm39) |
|
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,172,732 (GRCm39) |
I46V |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,103,187 (GRCm39) |
T481I |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,104,971 (GRCm39) |
L524P |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,902 (GRCm39) |
|
silent |
Het |
| Ssh2 |
C |
T |
11: 77,299,021 (GRCm39) |
Q123* |
probably null |
Het |
| St18 |
G |
T |
1: 6,872,959 (GRCm39) |
L231F |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,615 (GRCm39) |
T1918A |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
C |
A |
5: 65,083,939 (GRCm39) |
V213F |
probably benign |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
G |
A |
1: 74,822,013 (GRCm39) |
R198H |
probably damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,019 (GRCm39) |
V98E |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,515 (GRCm39) |
T248A |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,293,251 (GRCm39) |
|
probably null |
Het |
| Zfp697 |
T |
G |
3: 98,332,810 (GRCm39) |
C79G |
possibly 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 |
|
|
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 |
|
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'- GTAAGGACAGCCATGGTGTG -3'
(R):5'- CCTTCATCTAGCCCAGAGTG -3'
Sequencing Primer
(F):5'- CTTTAGCTGGTTCCGGAAGAAACAC -3'
(R):5'- CTTCATCTAGCCCAGAGTGAAATG -3'
|
| Posted On |
2017-02-03 |
Incidental Mutation