Incidental Mutation 'R6129:Stk10'
ID |
487580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk10
|
Ensembl Gene |
ENSMUSG00000020272 |
Gene Name |
serine/threonine kinase 10 |
Synonyms |
Lok, Gek1 |
MMRRC Submission |
044276-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R6129 (G1)
|
Quality Score |
172.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
32483305-32574587 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32565871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 872
(C872S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102821]
|
AlphaFold |
O55098 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102821
AA Change: C872S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099885 Gene: ENSMUSG00000020272 AA Change: C872S
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (54/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
T |
A |
11: 69,789,137 (GRCm39) |
Y354F |
probably damaging |
Het |
Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
Acsm2 |
G |
A |
7: 119,190,470 (GRCm39) |
|
probably null |
Het |
Adgrl1 |
A |
G |
8: 84,645,616 (GRCm39) |
N80D |
probably damaging |
Het |
Ankrd34a |
T |
A |
3: 96,505,274 (GRCm39) |
Y159* |
probably null |
Het |
Bcl2l2 |
G |
A |
14: 55,122,202 (GRCm39) |
V122M |
possibly damaging |
Het |
Brms1l |
A |
G |
12: 55,914,970 (GRCm39) |
H293R |
probably benign |
Het |
Ccn1 |
T |
C |
3: 145,354,986 (GRCm39) |
I90V |
possibly damaging |
Het |
Clec4b1 |
A |
G |
6: 123,045,461 (GRCm39) |
T94A |
possibly damaging |
Het |
Crim1 |
A |
G |
17: 78,588,738 (GRCm39) |
D271G |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,387,127 (GRCm39) |
G2141S |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,340 (GRCm39) |
Y2156* |
probably null |
Het |
Ctnnal1 |
C |
A |
4: 56,829,573 (GRCm39) |
A419S |
possibly damaging |
Het |
Cyp27a1 |
G |
A |
1: 74,774,851 (GRCm39) |
R264H |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dsc2 |
T |
A |
18: 20,178,487 (GRCm39) |
T306S |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ermp1 |
A |
T |
19: 29,600,609 (GRCm39) |
Y586N |
possibly damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm5114 |
C |
T |
7: 39,058,024 (GRCm39) |
A532T |
possibly damaging |
Het |
Gm5431 |
A |
G |
11: 48,780,418 (GRCm39) |
L168P |
probably damaging |
Het |
Hao2 |
T |
C |
3: 98,787,842 (GRCm39) |
T196A |
probably benign |
Het |
Hdac9 |
A |
C |
12: 34,337,474 (GRCm39) |
L669R |
probably damaging |
Het |
Hps5 |
A |
G |
7: 46,421,198 (GRCm39) |
V755A |
probably benign |
Het |
Jag2 |
G |
T |
12: 112,883,969 (GRCm39) |
Y203* |
probably null |
Het |
Lrrn3 |
G |
A |
12: 41,503,787 (GRCm39) |
Q177* |
probably null |
Het |
Me1 |
A |
T |
9: 86,533,009 (GRCm39) |
V151E |
probably damaging |
Het |
Mkx |
A |
G |
18: 6,992,888 (GRCm39) |
V132A |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,522,836 (GRCm39) |
S643P |
probably benign |
Het |
Mysm1 |
C |
A |
4: 94,856,192 (GRCm39) |
R135L |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,011,483 (GRCm39) |
F4L |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,542,567 (GRCm39) |
C1773* |
probably null |
Het |
Pcbp3 |
T |
C |
10: 76,599,182 (GRCm39) |
E318G |
probably damaging |
Het |
Pcdh12 |
T |
C |
18: 38,410,912 (GRCm39) |
K984E |
probably damaging |
Het |
Pcna-ps2 |
A |
G |
19: 9,261,379 (GRCm39) |
N213D |
possibly damaging |
Het |
Pde8b |
G |
A |
13: 95,178,467 (GRCm39) |
A509V |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Phf7 |
A |
G |
14: 30,962,820 (GRCm39) |
Y137H |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,818,543 (GRCm39) |
V1315A |
probably benign |
Het |
Plxnd1 |
A |
G |
6: 115,955,135 (GRCm39) |
C571R |
probably damaging |
Het |
Ppp1r12b |
C |
T |
1: 134,819,990 (GRCm39) |
W251* |
probably null |
Het |
Prps1l1 |
A |
G |
12: 35,035,329 (GRCm39) |
E148G |
probably damaging |
Het |
Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
Robo3 |
A |
G |
9: 37,334,589 (GRCm39) |
Y592H |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Rufy1 |
A |
T |
11: 50,308,075 (GRCm39) |
L259Q |
probably damaging |
Het |
Rusc2 |
T |
C |
4: 43,424,271 (GRCm39) |
F1112S |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,815,144 (GRCm39) |
V622A |
possibly damaging |
Het |
Sptbn4 |
C |
A |
7: 27,059,513 (GRCm39) |
C1124F |
probably damaging |
Het |
Tex15 |
A |
T |
8: 34,064,158 (GRCm39) |
N1196I |
possibly damaging |
Het |
Tnxa |
A |
G |
17: 35,019,262 (GRCm39) |
|
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zscan4b |
T |
A |
7: 10,635,815 (GRCm39) |
T171S |
probably benign |
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 |
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 |
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'- TCAGTAGTGAGAGCAGAACCTG -3'
(R):5'- GTCCAGTCTAACAGCCAGAG -3'
Sequencing Primer
(F):5'- GCTGAACTAGGCAAAGTCCCG -3'
(R):5'- TCCAGTCTAACAGCCAGAGAGTAG -3'
|
Posted On |
2017-10-10 |