Incidental Mutation 'R4430:Stk10'
| ID |
328573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk10
|
| Ensembl Gene |
ENSMUSG00000020272 |
| Gene Name |
serine/threonine kinase 10 |
| Synonyms |
Lok, Gek1 |
| MMRRC Submission |
041700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R4430 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32483305-32574587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32483552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 50
(V50A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102821]
[ENSMUST00000109377]
|
| AlphaFold |
O55098 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102821
AA Change: V50A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099885
Gene: ENSMUSG00000020272
AA Change: V50A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109377
|
| SMART Domains |
Protein: ENSMUSP00000105002
Gene: ENSMUSG00000044056
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
1 |
26 |
3e-7 |
BLAST |
|
SCOP:d2sas__
|
2 |
88 |
2e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,963,348 (GRCm39) |
N926S |
unknown |
Het |
| Ahi1 |
T |
A |
10: 20,847,977 (GRCm39) |
C462S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,404 (GRCm39) |
I563V |
probably benign |
Het |
| Ankrd55 |
G |
A |
13: 112,459,717 (GRCm39) |
|
probably null |
Het |
| Bag3 |
A |
G |
7: 128,125,647 (GRCm39) |
D22G |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,245,705 (GRCm39) |
F152S |
probably damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,198,004 (GRCm39) |
I166T |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,946,746 (GRCm39) |
I3113V |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,974 (GRCm39) |
H1059R |
probably benign |
Het |
| Gm14412 |
C |
A |
2: 177,007,625 (GRCm39) |
S90I |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,388 (GRCm39) |
R528G |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,882,217 (GRCm39) |
L449* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,328 (GRCm39) |
T185A |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,509 (GRCm39) |
S840G |
possibly damaging |
Het |
| Nherf4 |
C |
T |
9: 44,161,041 (GRCm39) |
S175N |
probably benign |
Het |
| Nim1k |
C |
A |
13: 120,174,078 (GRCm39) |
R272L |
possibly damaging |
Het |
| Or5b104 |
C |
T |
19: 13,072,452 (GRCm39) |
V187I |
probably benign |
Het |
| Or6c213 |
T |
A |
10: 129,574,130 (GRCm39) |
I219F |
probably damaging |
Het |
| Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,171,961 (GRCm39) |
V83A |
probably damaging |
Het |
| Pde3b |
C |
T |
7: 114,133,905 (GRCm39) |
P974S |
probably damaging |
Het |
| Pglyrp3 |
T |
A |
3: 91,938,798 (GRCm39) |
D324E |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,750,413 (GRCm39) |
S1953P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sox5 |
A |
G |
6: 143,987,000 (GRCm39) |
I188T |
possibly damaging |
Het |
| Spata4 |
T |
C |
8: 55,054,878 (GRCm39) |
I86T |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Sytl4 |
A |
G,T |
X: 132,849,972 (GRCm39) |
S338R |
probably damaging |
Homo |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem201 |
A |
C |
4: 149,815,596 (GRCm39) |
V118G |
probably benign |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,401,951 (GRCm39) |
M227V |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,449 (GRCm39) |
M503K |
probably benign |
Het |
| Zfp54 |
T |
G |
17: 21,655,222 (GRCm39) |
V572G |
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 |
|
R4304:Stk10
|
UTSW |
11 |
32,560,634 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- GACTACAGTCTCCAGAGTGC -3'
(R):5'- AGATGTGTCCCTATCACCGTGATC -3'
Sequencing Primer
(F):5'- AGCCAATTGAGGGGTCTCG -3'
(R):5'- CTATCACCGTGATCCTGGGGATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation