Incidental Mutation 'R9115:Mapk10'
ID |
692466 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapk10
|
Ensembl Gene |
ENSMUSG00000046709 |
Gene Name |
mitogen-activated protein kinase 10 |
Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9115 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
103056413-103359200 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103186532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 60
(V60E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086854]
[ENSMUST00000112846]
[ENSMUST00000112847]
[ENSMUST00000112848]
[ENSMUST00000133069]
[ENSMUST00000141573]
[ENSMUST00000170792]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086854
AA Change: V30E
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000084065 Gene: ENSMUSG00000046709 AA Change: V30E
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
5.76e-88 |
SMART |
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112846
AA Change: V30E
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000108467 Gene: ENSMUSG00000046709 AA Change: V30E
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112847
AA Change: V30E
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108468 Gene: ENSMUSG00000046709 AA Change: V30E
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000108469 Gene: ENSMUSG00000046709 AA Change: V60E
Domain | Start | End | E-Value | Type |
S_TKc
|
94 |
389 |
4.37e-88 |
SMART |
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133069
AA Change: V30E
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143609 Gene: ENSMUSG00000046709 AA Change: V30E
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
252 |
1.4e-9 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141573
AA Change: V30E
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142798 Gene: ENSMUSG00000046709 AA Change: V30E
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
64 |
125 |
1.3e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170792
AA Change: V30E
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000127193 Gene: ENSMUSG00000046709 AA Change: V30E
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals and are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015] PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. They are resistant to kainic acid induced seizures and show increased resistance to MPTP induced Parkinson's disease. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aire |
T |
C |
10: 77,879,309 (GRCm39) |
T17A |
|
Het |
Ankrd31 |
T |
C |
13: 96,940,773 (GRCm39) |
|
probably null |
Het |
Brwd1 |
C |
T |
16: 95,848,314 (GRCm39) |
R569K |
probably damaging |
Het |
Capns1 |
A |
T |
7: 29,889,978 (GRCm39) |
I177K |
probably benign |
Het |
Ccdc182 |
A |
G |
11: 88,185,343 (GRCm39) |
N141S |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,803,217 (GRCm39) |
W2441R |
probably damaging |
Het |
Cftr |
A |
T |
6: 18,235,310 (GRCm39) |
R516S |
probably damaging |
Het |
Ckap4 |
C |
T |
10: 84,363,507 (GRCm39) |
V519M |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,231,974 (GRCm39) |
P1277L |
unknown |
Het |
Cspg4 |
T |
C |
9: 56,797,736 (GRCm39) |
L1400P |
probably damaging |
Het |
Cyp4f39 |
T |
A |
17: 32,711,296 (GRCm39) |
F481Y |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,309,011 (GRCm39) |
I1913M |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,490,156 (GRCm39) |
T1989A |
probably damaging |
Het |
Eef2 |
CC |
CCC |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
G |
A |
7: 27,853,754 (GRCm39) |
V1573I |
possibly damaging |
Het |
Fshr |
T |
A |
17: 89,292,948 (GRCm39) |
I577F |
probably damaging |
Het |
Gfm2 |
T |
C |
13: 97,301,707 (GRCm39) |
|
probably null |
Het |
Gm12695 |
T |
C |
4: 96,657,846 (GRCm39) |
N108D |
possibly damaging |
Het |
Gm3285 |
T |
A |
10: 77,698,007 (GRCm39) |
L52H |
unknown |
Het |
Gm5930 |
A |
T |
14: 44,575,006 (GRCm39) |
L95* |
probably null |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Klhl26 |
A |
G |
8: 70,904,896 (GRCm39) |
M338T |
possibly damaging |
Het |
Lrrc4c |
T |
C |
2: 97,459,686 (GRCm39) |
I104T |
probably benign |
Het |
Mfsd4b3-ps |
T |
A |
10: 39,824,012 (GRCm39) |
K83* |
probably null |
Het |
Muc15 |
C |
T |
2: 110,562,089 (GRCm39) |
T175I |
probably damaging |
Het |
Nmu |
G |
A |
5: 76,511,572 (GRCm39) |
|
probably benign |
Het |
Nol4l |
G |
T |
2: 153,253,638 (GRCm39) |
T645K |
probably damaging |
Het |
Nr2f1 |
A |
G |
13: 78,337,869 (GRCm39) |
S416P |
probably benign |
Het |
Ntn4 |
A |
C |
10: 93,569,675 (GRCm39) |
I463L |
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Or12k7 |
T |
C |
2: 36,959,052 (GRCm39) |
L245P |
probably damaging |
Het |
Or52h2 |
C |
A |
7: 103,838,931 (GRCm39) |
C161F |
possibly damaging |
Het |
Or8h8 |
T |
A |
2: 86,752,998 (GRCm39) |
R293W |
probably damaging |
Het |
Pccb |
T |
A |
9: 100,869,908 (GRCm39) |
N341I |
probably damaging |
Het |
Pgm3 |
G |
A |
9: 86,447,662 (GRCm39) |
L194F |
probably damaging |
Het |
Prkra |
T |
A |
2: 76,478,193 (GRCm39) |
H3L |
probably benign |
Het |
Rbm12 |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,030 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,803,989 (GRCm39) |
K600* |
probably null |
Het |
Sema4d |
A |
T |
13: 51,877,596 (GRCm39) |
S79T |
probably benign |
Het |
Slc37a1 |
T |
C |
17: 31,534,486 (GRCm39) |
C53R |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,087,526 (GRCm39) |
I971T |
probably damaging |
Het |
Tcstv1a |
T |
A |
13: 120,355,453 (GRCm39) |
I60F |
possibly damaging |
Het |
Tdrkh |
G |
T |
3: 94,335,598 (GRCm39) |
C397F |
possibly damaging |
Het |
Tecrl |
A |
T |
5: 83,427,906 (GRCm39) |
M314K |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,780,496 (GRCm39) |
K1131R |
unknown |
Het |
Uimc1 |
A |
T |
13: 55,198,584 (GRCm39) |
Y531N |
possibly damaging |
Het |
Usp5 |
A |
G |
6: 124,803,384 (GRCm39) |
S39P |
probably damaging |
Het |
Virma |
A |
G |
4: 11,498,744 (GRCm39) |
T62A |
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,254,153 (GRCm39) |
Y844H |
probably benign |
Het |
Yars1 |
T |
C |
4: 129,109,143 (GRCm39) |
V458A |
probably benign |
Het |
Zfp235 |
G |
A |
7: 23,841,453 (GRCm39) |
C624Y |
probably damaging |
Het |
Zfp712 |
A |
T |
13: 67,189,241 (GRCm39) |
S429T |
probably damaging |
Het |
Zmynd11 |
A |
T |
13: 9,743,495 (GRCm39) |
D307E |
probably damaging |
Het |
|
Other mutations in Mapk10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01480:Mapk10
|
APN |
5 |
103,074,018 (GRCm39) |
splice site |
probably benign |
|
IGL01791:Mapk10
|
APN |
5 |
103,144,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01885:Mapk10
|
APN |
5 |
103,144,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02192:Mapk10
|
APN |
5 |
103,137,513 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02260:Mapk10
|
APN |
5 |
103,186,534 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02409:Mapk10
|
APN |
5 |
103,076,096 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03148:Mapk10
|
APN |
5 |
103,073,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0904:Mapk10
|
UTSW |
5 |
103,135,146 (GRCm39) |
splice site |
probably benign |
|
R1067:Mapk10
|
UTSW |
5 |
103,139,723 (GRCm39) |
splice site |
probably benign |
|
R1592:Mapk10
|
UTSW |
5 |
103,186,487 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1812:Mapk10
|
UTSW |
5 |
103,061,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R2364:Mapk10
|
UTSW |
5 |
103,186,507 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2866:Mapk10
|
UTSW |
5 |
103,186,548 (GRCm39) |
missense |
probably benign |
0.25 |
R2867:Mapk10
|
UTSW |
5 |
103,186,548 (GRCm39) |
missense |
probably benign |
0.25 |
R2867:Mapk10
|
UTSW |
5 |
103,186,548 (GRCm39) |
missense |
probably benign |
0.25 |
R4622:Mapk10
|
UTSW |
5 |
103,137,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Mapk10
|
UTSW |
5 |
103,138,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Mapk10
|
UTSW |
5 |
103,138,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Mapk10
|
UTSW |
5 |
103,111,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R5901:Mapk10
|
UTSW |
5 |
103,061,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R5986:Mapk10
|
UTSW |
5 |
103,186,446 (GRCm39) |
missense |
probably benign |
0.33 |
R6000:Mapk10
|
UTSW |
5 |
103,114,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R6000:Mapk10
|
UTSW |
5 |
103,114,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R7375:Mapk10
|
UTSW |
5 |
103,124,256 (GRCm39) |
missense |
probably null |
0.26 |
R7460:Mapk10
|
UTSW |
5 |
103,186,443 (GRCm39) |
missense |
probably benign |
0.37 |
R7753:Mapk10
|
UTSW |
5 |
103,186,419 (GRCm39) |
nonsense |
probably null |
|
R7879:Mapk10
|
UTSW |
5 |
103,111,362 (GRCm39) |
missense |
probably benign |
0.10 |
R7935:Mapk10
|
UTSW |
5 |
103,139,792 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8059:Mapk10
|
UTSW |
5 |
103,114,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R8846:Mapk10
|
UTSW |
5 |
103,144,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9030:Mapk10
|
UTSW |
5 |
103,144,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Mapk10
|
UTSW |
5 |
103,074,025 (GRCm39) |
splice site |
probably benign |
|
R9106:Mapk10
|
UTSW |
5 |
103,186,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R9398:Mapk10
|
UTSW |
5 |
103,061,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9620:Mapk10
|
UTSW |
5 |
103,114,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R9796:Mapk10
|
UTSW |
5 |
103,135,101 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1176:Mapk10
|
UTSW |
5 |
103,139,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGTAAATGAATCTAGCATACTCCC -3'
(R):5'- CTCATAGGGTCTGTATTTCCAGGC -3'
Sequencing Primer
(F):5'- ACTCCCTTTAAAAGTAGATCAAATCC -3'
(R):5'- GTCTGTATTTCCAGGCCTTAAACATG -3'
|
Posted On |
2021-12-30 |