Incidental Mutation 'R5188:Stk11'
| ID |
398017 |
| 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 # |
R5188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79951637-79966516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79962113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 215
(G215V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000105371]
[ENSMUST00000144883]
[ENSMUST00000213772]
[ENSMUST00000169546]
[ENSMUST00000170219]
[ENSMUST00000147778]
[ENSMUST00000152592]
|
| AlphaFold |
Q9WTK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003152
AA Change: G215V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068
AA Change: G215V
| 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: G89V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068
AA Change: G89V
| 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: G215V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068
AA Change: G215V
| 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 damaging
Transcript: ENSMUST00000213772
AA Change: G215V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,330,651 (GRCm39) |
I1335F |
probably benign |
Het |
| Amigo3 |
C |
A |
9: 107,931,882 (GRCm39) |
A435E |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,803,778 (GRCm39) |
N1871K |
probably benign |
Het |
| Ctsw |
C |
T |
19: 5,517,120 (GRCm39) |
A71T |
probably damaging |
Het |
| Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,738,827 (GRCm39) |
T2389A |
probably benign |
Het |
| Gpr151 |
A |
G |
18: 42,711,820 (GRCm39) |
M286T |
probably benign |
Het |
| Katnbl1 |
T |
A |
2: 112,240,499 (GRCm39) |
I262N |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,443,821 (GRCm39) |
C149R |
probably damaging |
Het |
| Mpc1 |
A |
T |
17: 8,515,215 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
A |
T |
19: 4,059,988 (GRCm39) |
N37K |
probably damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,405 (GRCm39) |
I152L |
probably benign |
Het |
| Or5af2 |
C |
A |
11: 58,708,146 (GRCm39) |
T104K |
probably damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,531 (GRCm39) |
V140A |
probably benign |
Het |
| Or8k1 |
T |
G |
2: 86,047,521 (GRCm39) |
S178R |
probably benign |
Het |
| Pnpla7 |
C |
A |
2: 24,887,312 (GRCm39) |
P52Q |
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,548,670 (GRCm39) |
Q59R |
unknown |
Het |
| Ren1 |
A |
G |
1: 133,278,351 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
T |
C |
6: 23,654,139 (GRCm39) |
T286A |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,942,015 (GRCm39) |
|
probably null |
Het |
| Srp72 |
T |
A |
5: 77,122,598 (GRCm39) |
S10T |
possibly damaging |
Het |
| Stk4 |
T |
C |
2: 163,930,828 (GRCm39) |
M143T |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,617,849 (GRCm39) |
S318T |
possibly damaging |
Het |
| Tchh |
G |
C |
3: 93,353,986 (GRCm39) |
R1142P |
unknown |
Het |
| Vipas39 |
G |
T |
12: 87,301,021 (GRCm39) |
R161S |
probably benign |
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 |
|
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'- TCACAAGGACATCAAGCCGG -3'
(R):5'- ACCCACAGACCTGGAATGTC -3'
Sequencing Primer
(F):5'- GGACATCAAGCCGGGCAAC -3'
(R):5'- GGAATGTCCAACCTGCTAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation