Incidental Mutation 'R1067:Mapk10'
ID |
86045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapk10
|
Ensembl Gene |
ENSMUSG00000046709 |
Gene Name |
mitogen-activated protein kinase 10 |
Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
MMRRC Submission |
039153-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1067 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
103056413-103359200 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 103139723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127193
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086854]
[ENSMUST00000112846]
[ENSMUST00000112847]
[ENSMUST00000112848]
[ENSMUST00000128869]
[ENSMUST00000133069]
[ENSMUST00000141573]
[ENSMUST00000170792]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086854
|
SMART Domains |
Protein: ENSMUSP00000084065 Gene: ENSMUSG00000046709
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
|
SMART Domains |
Protein: ENSMUSP00000108467 Gene: ENSMUSG00000046709
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112847
|
SMART Domains |
Protein: ENSMUSP00000108468 Gene: ENSMUSG00000046709
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 benign
Transcript: ENSMUST00000112848
|
SMART Domains |
Protein: ENSMUSP00000108469 Gene: ENSMUSG00000046709
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: ENSMUST00000128869
|
SMART Domains |
Protein: ENSMUSP00000143448 Gene: ENSMUSG00000046709
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
178 |
7.4e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133069
|
SMART Domains |
Protein: ENSMUSP00000143609 Gene: ENSMUSG00000046709
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
252 |
1.4e-9 |
SMART |
|
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 benign
Transcript: ENSMUST00000170792
|
SMART Domains |
Protein: ENSMUSP00000127193 Gene: ENSMUSG00000046709
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
100% (40/40) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
A |
G |
18: 61,957,018 (GRCm39) |
|
probably benign |
Het |
Adam24 |
T |
A |
8: 41,133,793 (GRCm39) |
C420* |
probably null |
Het |
Atp12a |
G |
A |
14: 56,610,893 (GRCm39) |
G346S |
probably damaging |
Het |
Bpifa3 |
A |
T |
2: 153,979,529 (GRCm39) |
Q218L |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,039,034 (GRCm39) |
|
probably benign |
Het |
Defb41 |
A |
G |
1: 18,335,248 (GRCm39) |
|
probably null |
Het |
Edc4 |
C |
A |
8: 106,617,637 (GRCm39) |
T1094K |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
G3bp2 |
A |
T |
5: 92,211,187 (GRCm39) |
|
probably benign |
Het |
Herc6 |
T |
A |
6: 57,639,204 (GRCm39) |
N888K |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,373,576 (GRCm39) |
T1471M |
probably benign |
Het |
Kpna6 |
G |
T |
4: 129,541,896 (GRCm39) |
H500Q |
probably benign |
Het |
Krt78 |
G |
A |
15: 101,854,896 (GRCm39) |
Q972* |
probably null |
Het |
Krtap9-5 |
T |
A |
11: 99,839,589 (GRCm39) |
C97S |
unknown |
Het |
Mybphl |
A |
G |
3: 108,272,319 (GRCm39) |
T3A |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Oca2 |
A |
G |
7: 55,966,141 (GRCm39) |
I378V |
probably damaging |
Het |
Or7a39 |
T |
A |
10: 78,715,517 (GRCm39) |
C170* |
probably null |
Het |
Pax6 |
C |
A |
2: 105,510,646 (GRCm39) |
Q2K |
probably benign |
Het |
Plxna2 |
C |
A |
1: 194,462,818 (GRCm39) |
|
probably null |
Het |
Ppp1r13b |
A |
G |
12: 111,801,550 (GRCm39) |
L378P |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,570,646 (GRCm39) |
E2310K |
probably damaging |
Het |
Pth2r |
G |
A |
1: 65,411,507 (GRCm39) |
G348E |
possibly damaging |
Het |
Rarb |
T |
C |
14: 16,436,769 (GRCm38) |
I251V |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,434,376 (GRCm39) |
L637P |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Syt1 |
A |
T |
10: 108,472,523 (GRCm39) |
D120E |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tmbim1 |
A |
G |
1: 74,329,905 (GRCm39) |
|
probably benign |
Het |
Tnfrsf25 |
G |
A |
4: 152,202,745 (GRCm39) |
C191Y |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,952,968 (GRCm39) |
K691E |
probably damaging |
Het |
Trim7 |
T |
A |
11: 48,728,646 (GRCm39) |
V98E |
probably damaging |
Het |
Tspan3 |
A |
G |
9: 56,068,104 (GRCm39) |
F15L |
probably benign |
Het |
Uap1l1 |
A |
G |
2: 25,252,759 (GRCm39) |
L427S |
probably damaging |
Het |
Upf1 |
A |
C |
8: 70,791,053 (GRCm39) |
M574R |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,282,404 (GRCm39) |
V1931E |
probably benign |
Het |
Zfp3 |
T |
C |
11: 70,663,411 (GRCm39) |
S457P |
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 |
|
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 |
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'- AGATAGAAGCAGGAGTGCCCTTCAG -3'
(R):5'- GAAGCAGTCCAGAGATGTTCCCAG -3'
Sequencing Primer
(F):5'- AGTGCCCTTCAGAAGGTCAC -3'
(R):5'- AGAGATGTTCCCAGTCTCTCCTG -3'
|
Posted On |
2013-11-18 |