Incidental Mutation 'R8059:Mapk10'
ID |
619590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapk10
|
Ensembl Gene |
ENSMUSG00000046709 |
Gene Name |
mitogen-activated protein kinase 10 |
Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
MMRRC Submission |
067894-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8059 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
103056413-103359200 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 103114478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 303
(N303K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086854]
[ENSMUST00000112846]
[ENSMUST00000112847]
[ENSMUST00000112848]
[ENSMUST00000141573]
[ENSMUST00000170792]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086854
AA Change: N273K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084065 Gene: ENSMUSG00000046709 AA Change: N273K
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 damaging
Transcript: ENSMUST00000112846
AA Change: N273K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108467 Gene: ENSMUSG00000046709 AA Change: N273K
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112847
AA Change: N273K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108468 Gene: ENSMUSG00000046709 AA Change: N273K
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112848
AA Change: N303K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108469 Gene: ENSMUSG00000046709 AA Change: N303K
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: ENSMUST00000141573
|
SMART Domains |
Protein: ENSMUSP00000142798 Gene: ENSMUSG00000046709
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
64 |
125 |
1.3e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170792
AA Change: N273K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127193 Gene: ENSMUSG00000046709 AA Change: N273K
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,323,279 (GRCm39) |
M3372K |
probably benign |
Het |
Abcg3 |
A |
T |
5: 105,100,948 (GRCm39) |
|
probably null |
Het |
Adam19 |
G |
A |
11: 46,027,293 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
G |
T |
10: 14,344,794 (GRCm39) |
T53K |
probably damaging |
Het |
Ccdc141 |
A |
C |
2: 76,875,095 (GRCm39) |
L705R |
probably damaging |
Het |
Cep78 |
A |
T |
19: 15,958,876 (GRCm39) |
V156E |
probably benign |
Het |
Cers2 |
A |
G |
3: 95,229,982 (GRCm39) |
D342G |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,651,948 (GRCm39) |
I272N |
probably damaging |
Het |
Defb30 |
A |
G |
14: 63,273,383 (GRCm39) |
*77Q |
probably null |
Het |
Dnai3 |
C |
G |
3: 145,752,428 (GRCm39) |
R749S |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,911,708 (GRCm39) |
V63A |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Entpd2 |
G |
T |
2: 25,288,096 (GRCm39) |
V107L |
probably damaging |
Het |
Hectd1 |
T |
A |
12: 51,837,161 (GRCm39) |
H799L |
possibly damaging |
Het |
Hira |
T |
C |
16: 18,730,901 (GRCm39) |
V200A |
probably damaging |
Het |
Hspd1 |
T |
C |
1: 55,120,883 (GRCm39) |
K269E |
possibly damaging |
Het |
Kcnj4 |
T |
C |
15: 79,369,003 (GRCm39) |
S326G |
probably benign |
Het |
Kctd19 |
T |
G |
8: 106,122,983 (GRCm39) |
I144L |
probably benign |
Het |
Lama4 |
T |
C |
10: 38,842,057 (GRCm39) |
I36T |
probably benign |
Het |
Lrrn3 |
T |
C |
12: 41,504,216 (GRCm39) |
T34A |
probably benign |
Het |
Maco1 |
A |
T |
4: 134,555,359 (GRCm39) |
C371* |
probably null |
Het |
Maml3 |
A |
G |
3: 51,764,110 (GRCm39) |
S285P |
probably damaging |
Het |
Man2b2 |
A |
G |
5: 36,973,504 (GRCm39) |
Y492H |
probably damaging |
Het |
Matn2 |
C |
T |
15: 34,345,481 (GRCm39) |
R163C |
probably damaging |
Het |
Mtmr7 |
C |
T |
8: 41,034,564 (GRCm39) |
A253T |
probably damaging |
Het |
Naca |
C |
T |
10: 127,876,372 (GRCm39) |
P468L |
unknown |
Het |
Nckap1l |
T |
C |
15: 103,401,714 (GRCm39) |
S1084P |
possibly damaging |
Het |
Nek11 |
T |
C |
9: 105,040,173 (GRCm39) |
*629W |
probably null |
Het |
Nfkb1 |
C |
T |
3: 135,299,613 (GRCm39) |
A731T |
possibly damaging |
Het |
Nop2 |
T |
C |
6: 125,117,775 (GRCm39) |
V442A |
probably damaging |
Het |
Oaz2 |
C |
T |
9: 65,596,425 (GRCm39) |
P163L |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,223 (GRCm39) |
T231A |
probably benign |
Het |
Or6d14 |
C |
T |
6: 116,533,434 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,306 (GRCm39) |
V140A |
probably benign |
Het |
Pabpc2 |
A |
T |
18: 39,907,875 (GRCm39) |
N380I |
probably benign |
Het |
Pax3 |
T |
C |
1: 78,080,003 (GRCm39) |
D461G |
probably benign |
Het |
Pds5b |
G |
T |
5: 150,731,300 (GRCm39) |
R1443L |
unknown |
Het |
Per1 |
G |
A |
11: 68,997,309 (GRCm39) |
R828H |
probably damaging |
Het |
Phlpp2 |
T |
A |
8: 110,622,189 (GRCm39) |
S144T |
probably benign |
Het |
Plod1 |
A |
T |
4: 148,012,941 (GRCm39) |
I207N |
probably damaging |
Het |
Psmc6 |
A |
T |
14: 45,578,260 (GRCm39) |
I208F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,719,491 (GRCm39) |
S2494P |
probably damaging |
Het |
Rgs3 |
T |
C |
4: 62,521,214 (GRCm39) |
|
probably benign |
Het |
Rtraf |
T |
C |
14: 19,872,631 (GRCm39) |
|
probably benign |
Het |
Slc17a6 |
T |
A |
7: 51,294,792 (GRCm39) |
N166K |
probably damaging |
Het |
Slc18a2 |
A |
T |
19: 59,272,572 (GRCm39) |
T348S |
probably benign |
Het |
Slc39a8 |
G |
T |
3: 135,532,347 (GRCm39) |
A39S |
probably benign |
Het |
Slc8a3 |
C |
T |
12: 81,249,032 (GRCm39) |
G799S |
probably damaging |
Het |
Sp1 |
T |
G |
15: 102,316,337 (GRCm39) |
S46R |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,045,936 (GRCm39) |
|
probably benign |
Het |
Stab1 |
G |
A |
14: 30,882,198 (GRCm39) |
P499L |
probably benign |
Het |
Trav21-dv12 |
C |
A |
14: 54,114,178 (GRCm39) |
D99E |
probably damaging |
Het |
Trpv6 |
T |
G |
6: 41,601,520 (GRCm39) |
I467L |
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,548,842 (GRCm39) |
Y12C |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,698 (GRCm39) |
N84S |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,696,690 (GRCm39) |
F480S |
probably benign |
Het |
Zc3h13 |
C |
G |
14: 75,565,250 (GRCm39) |
R788G |
unknown |
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 |
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 |
R9115:Mapk10
|
UTSW |
5 |
103,186,532 (GRCm39) |
missense |
|
|
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'- TCAATGCAAGCCCAGGCAAG -3'
(R):5'- GTCTAAAATTCCAAGAGGACTCCCAG -3'
Sequencing Primer
(F):5'- TCCCAGAATGTGACCATCTGG -3'
(R):5'- GACTCCCAGGCTGTGAACTTTG -3'
|
Posted On |
2020-01-23 |