Incidental Mutation 'IGL03183:Stk10'
ID |
412352 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stk10
|
Ensembl Gene |
ENSMUSG00000020272 |
Gene Name |
serine/threonine kinase 10 |
Synonyms |
Lok, Gek1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
IGL03183
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
32483305-32574587 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32554143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 610
(V610E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102821]
|
AlphaFold |
O55098 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102821
AA Change: V610E
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099885 Gene: ENSMUSG00000020272 AA Change: V610E
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 |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
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 |
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 |
R4304:Stk10
|
UTSW |
11 |
32,560,634 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
|
Posted On |
2016-08-02 |