Incidental Mutation 'R0790:Stk10'
| ID |
76441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk10
|
| Ensembl Gene |
ENSMUSG00000020272 |
| Gene Name |
serine/threonine kinase 10 |
| Synonyms |
Lok, Gek1 |
| MMRRC Submission |
038970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R0790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32483305-32574587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32548653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 407
(V407A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102821]
|
| AlphaFold |
O55098 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102821
AA Change: V407A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099885
Gene: ENSMUSG00000020272
AA Change: V407A
| 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 |
noncoding transcript
Transcript: ENSMUST00000143397
|
| Meta Mutation Damage Score |
0.0618 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.0%
|
| Validation Efficiency |
100% (41/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
G |
12: 8,060,245 (GRCm39) |
E2876G |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,117,914 (GRCm39) |
S585P |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,887,072 (GRCm39) |
N685K |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,475 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,316,935 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
A |
G |
18: 34,784,666 (GRCm39) |
I32T |
possibly damaging |
Het |
| Cdca2 |
C |
T |
14: 67,917,740 (GRCm39) |
D553N |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
| Chit1 |
T |
G |
1: 134,066,490 (GRCm39) |
V2G |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Cpsf4l |
A |
G |
11: 113,597,234 (GRCm39) |
|
probably benign |
Het |
| Etaa1 |
G |
T |
11: 17,896,051 (GRCm39) |
Q689K |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,875,241 (GRCm39) |
V699I |
probably benign |
Het |
| Fry |
A |
G |
5: 150,389,902 (GRCm39) |
D2545G |
probably benign |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,878 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
G |
15: 7,215,196 (GRCm39) |
T768A |
probably benign |
Het |
| Mrap2 |
T |
C |
9: 87,064,835 (GRCm39) |
L192P |
possibly damaging |
Het |
| Myo18a |
G |
A |
11: 77,731,535 (GRCm39) |
R840Q |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,653,693 (GRCm39) |
D458G |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,962 (GRCm39) |
S283P |
possibly damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,843 (GRCm39) |
Y68H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,466,885 (GRCm39) |
E1034G |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,542,964 (GRCm39) |
|
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,005,172 (GRCm39) |
V202A |
possibly damaging |
Het |
| Raet1d |
T |
C |
10: 22,246,795 (GRCm39) |
I41T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,637,589 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,782,292 (GRCm39) |
Y145H |
probably damaging |
Het |
| Smad7 |
C |
T |
18: 75,526,933 (GRCm39) |
H260Y |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,575 (GRCm39) |
V218A |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,092,289 (GRCm39) |
Y499F |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,883 (GRCm39) |
P390S |
probably benign |
Het |
| Zfp748 |
A |
C |
13: 67,693,481 (GRCm39) |
L64W |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGCCAATGTAACTCAGCCAAG -3'
(R):5'- ACAGTCCGAGGCCCTCTTAGAATG -3'
Sequencing Primer
(F):5'- TGTAACTCAGCCAAGCCTCG -3'
(R):5'- AGGCCCTCTTAGAATGGCTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation