Incidental Mutation 'R3827:Stk11'
| ID |
273812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk11
|
| Ensembl Gene |
ENSMUSG00000003068 |
| Gene Name |
serine/threonine kinase 11 |
| Synonyms |
Lkb1, Par-4 |
| MMRRC Submission |
040775-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3827 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79951637-79966516 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2503 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 79963782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003152]
[ENSMUST00000105369]
[ENSMUST00000105370]
[ENSMUST00000105371]
[ENSMUST00000144883]
[ENSMUST00000152592]
[ENSMUST00000213772]
[ENSMUST00000169546]
[ENSMUST00000147778]
[ENSMUST00000170219]
|
| AlphaFold |
Q9WTK7 |
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000146180
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213772
AA Change: I322T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| 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 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 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 |
|
| Meta Mutation Damage Score |
0.1523 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gper1 |
T |
C |
5: 139,412,755 (GRCm39) |
S367P |
probably benign |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| H2-Q6 |
A |
T |
17: 35,644,655 (GRCm39) |
N148I |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
| Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
| Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
| Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
| Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
| Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
| Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
| Tmem203 |
T |
A |
2: 25,146,018 (GRCm39) |
W113R |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
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 |
|
|
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'- GCTATGGGTGTTAGGCTACCTC -3'
(R):5'- AGAGTGCACAAAGTCACCAG -3'
Sequencing Primer
(F):5'- TACCTCAAGCCTGTAGCCG -3'
(R):5'- AGTCACCAGCTCCAGTAGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation