Incidental Mutation 'R0904:Mapk10'
| ID |
83244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk10
|
| Ensembl Gene |
ENSMUSG00000046709 |
| Gene Name |
mitogen-activated protein kinase 10 |
| Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
| MMRRC Submission |
039062-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
103056413-103359200 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 103135146 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199275
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,975,118 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,740 (GRCm39) |
V2829A |
probably benign |
Het |
| Adk |
G |
T |
14: 21,142,496 (GRCm39) |
D26Y |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,106,145 (GRCm39) |
|
probably benign |
Het |
| Dap |
G |
A |
15: 31,272,526 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
A |
T |
4: 94,795,892 (GRCm39) |
S270T |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,619,487 (GRCm39) |
D764G |
probably damaging |
Het |
| Fbxl6 |
A |
T |
15: 76,421,283 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,268,014 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
G |
C |
17: 35,482,837 (GRCm39) |
M122I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map1s |
C |
A |
8: 71,366,832 (GRCm39) |
P579Q |
probably damaging |
Het |
| Mllt6 |
C |
G |
11: 97,555,824 (GRCm39) |
C51W |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Neurod2 |
G |
T |
11: 98,218,147 (GRCm39) |
T339K |
probably benign |
Het |
| Nfya |
G |
A |
17: 48,702,815 (GRCm39) |
Q29* |
probably null |
Het |
| Nipbl |
A |
T |
15: 8,391,202 (GRCm39) |
D257E |
probably benign |
Het |
| Pate5 |
T |
C |
9: 35,750,366 (GRCm39) |
D102G |
probably damaging |
Het |
| Pex5 |
G |
A |
6: 124,376,896 (GRCm39) |
|
probably benign |
Het |
| Pramel47 |
A |
C |
5: 95,489,186 (GRCm39) |
T210P |
probably damaging |
Het |
| Prx |
T |
A |
7: 27,217,719 (GRCm39) |
F879Y |
probably damaging |
Het |
| Resf1 |
G |
A |
6: 149,229,767 (GRCm39) |
A938T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,965,164 (GRCm39) |
T560M |
possibly damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,235 (GRCm39) |
|
noncoding transcript |
Het |
| Spdye4b |
A |
G |
5: 143,181,423 (GRCm39) |
|
probably benign |
Het |
| Ss18l1 |
A |
G |
2: 179,701,147 (GRCm39) |
Y287C |
probably damaging |
Het |
| Tpbg |
C |
A |
9: 85,726,617 (GRCm39) |
F195L |
unknown |
Het |
| Trbv16 |
T |
C |
6: 41,128,781 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,509,601 (GRCm39) |
T620A |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,310 (GRCm39) |
S259P |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,446 (GRCm39) |
M71K |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,719,094 (GRCm39) |
I816F |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,348,745 (GRCm39) |
Y61H |
possibly 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 |
|
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 |
|
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'- AGCAACCCACTTACCCAAGTTTCTG -3'
(R):5'- TTTAGCCGACACCTGCCTGAAC -3'
Sequencing Primer
(F):5'- ACTTACCCAAGTTTCTGCTTCTG -3'
(R):5'- TAGTTTGGGCATCCACACAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation