Incidental Mutation 'R4304:Stk10'
| ID |
500525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk10
|
| Ensembl Gene |
ENSMUSG00000020272 |
| Gene Name |
serine/threonine kinase 10 |
| Synonyms |
Lok, Gek1 |
| MMRRC Submission |
040865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R4304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32483305-32574587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32560634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 663
(V663A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102821]
|
| AlphaFold |
O55098 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102821
AA Change: V663A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099885
Gene: ENSMUSG00000020272
AA Change: V663A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
36 |
294 |
8.66e-92 |
SMART |
|
low complexity region
|
316 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
577 |
N/A |
INTRINSIC |
|
Pfam:PKK
|
586 |
724 |
1.9e-41 |
PFAM |
|
Pfam:PKK
|
754 |
894 |
2.2e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. Mice deficient for this gene product are viable, but exhibit altered integrin-mediated lymphocyte adhesion characteristics. The orthologous gene product in humans can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in enhanced cell adhesion in mitogen-stimulated T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,391,545 (GRCm39) |
M323K |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,006,489 (GRCm39) |
S636P |
probably benign |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,825,294 (GRCm39) |
V400D |
possibly damaging |
Het |
| Fam3d |
G |
A |
14: 8,349,324 (GRCm38) |
P209S |
probably damaging |
Het |
| Fig4 |
T |
A |
10: 41,132,423 (GRCm39) |
D461V |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gcfc2 |
G |
A |
6: 81,919,988 (GRCm39) |
R397Q |
probably damaging |
Het |
| Gm20939 |
A |
C |
17: 95,184,709 (GRCm39) |
Q452H |
probably benign |
Het |
| Gm5592 |
A |
T |
7: 40,935,686 (GRCm39) |
M63L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,295 (GRCm39) |
M252T |
probably benign |
Het |
| Lsm14a |
C |
A |
7: 34,056,858 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Or4a68 |
A |
T |
2: 89,270,542 (GRCm39) |
V27D |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,227,736 (GRCm39) |
Q261* |
probably null |
Het |
| Rptn |
C |
A |
3: 93,304,238 (GRCm39) |
H524N |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,530,058 (GRCm39) |
M240K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,738,741 (GRCm39) |
I3503V |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,172,941 (GRCm39) |
K625E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpp1 |
T |
A |
7: 105,399,516 (GRCm39) |
D84V |
possibly damaging |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Wfdc15b |
A |
C |
2: 164,057,388 (GRCm39) |
M1R |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
|
| Other mutations in Stk10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01105:Stk10
|
APN |
11 |
32,527,740 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01285:Stk10
|
APN |
11 |
32,560,653 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01983:Stk10
|
APN |
11 |
32,539,460 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03177:Stk10
|
APN |
11 |
32,564,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:Stk10
|
APN |
11 |
32,554,143 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
coquet
|
UTSW |
11 |
32,527,764 (GRCm39) |
missense |
|
|
|
legacy
|
UTSW |
11 |
32,554,166 (GRCm39) |
nonsense |
probably null |
|
|
mignon
|
UTSW |
11 |
32,537,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481_stk10_383
|
UTSW |
11 |
32,564,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Stk10
|
UTSW |
11 |
32,564,520 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0003:Stk10
|
UTSW |
11 |
32,539,460 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0008:Stk10
|
UTSW |
11 |
32,537,305 (GRCm39) |
splice site |
probably benign |
|
|
R0056:Stk10
|
UTSW |
11 |
32,567,851 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0076:Stk10
|
UTSW |
11 |
32,553,722 (GRCm39) |
missense |
probably benign |
|
|
R0227:Stk10
|
UTSW |
11 |
32,567,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Stk10
|
UTSW |
11 |
32,554,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Stk10
|
UTSW |
11 |
32,546,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0481:Stk10
|
UTSW |
11 |
32,564,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Stk10
|
UTSW |
11 |
32,567,882 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0790:Stk10
|
UTSW |
11 |
32,548,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1439:Stk10
|
UTSW |
11 |
32,567,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1539:Stk10
|
UTSW |
11 |
32,483,440 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1770:Stk10
|
UTSW |
11 |
32,572,464 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4430:Stk10
|
UTSW |
11 |
32,483,552 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4702:Stk10
|
UTSW |
11 |
32,505,172 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4797:Stk10
|
UTSW |
11 |
32,548,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5447:Stk10
|
UTSW |
11 |
32,554,166 (GRCm39) |
nonsense |
probably null |
|
|
R5801:Stk10
|
UTSW |
11 |
32,546,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5802:Stk10
|
UTSW |
11 |
32,546,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6129:Stk10
|
UTSW |
11 |
32,565,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Stk10
|
UTSW |
11 |
32,553,654 (GRCm39) |
splice site |
probably null |
|
|
R6175:Stk10
|
UTSW |
11 |
32,553,761 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6185:Stk10
|
UTSW |
11 |
32,527,749 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6520:Stk10
|
UTSW |
11 |
32,538,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6824:Stk10
|
UTSW |
11 |
32,537,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Stk10
|
UTSW |
11 |
32,548,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7649:Stk10
|
UTSW |
11 |
32,527,764 (GRCm39) |
missense |
|
|
|
R8331:Stk10
|
UTSW |
11 |
32,538,928 (GRCm39) |
missense |
|
|
|
R8847:Stk10
|
UTSW |
11 |
32,539,427 (GRCm39) |
missense |
|
|
|
R9252:Stk10
|
UTSW |
11 |
32,538,915 (GRCm39) |
missense |
|
|
|
R9367:Stk10
|
UTSW |
11 |
32,538,878 (GRCm39) |
missense |
|
|
|
X0027:Stk10
|
UTSW |
11 |
32,537,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTCTGGCCAGAAACAGGAG -3'
(R):5'- AGGCCTGGGCAGCTTAAAAG -3'
Sequencing Primer
(F):5'- CAGGGATCCTGCAGAAGC -3'
(R):5'- CTTAAAAGAAGGGGCCAGCTGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation