Incidental Mutation 'R6000:Mapk10'
| ID |
480770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk10
|
| Ensembl Gene |
ENSMUSG00000046709 |
| Gene Name |
mitogen-activated protein kinase 10 |
| Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
| MMRRC Submission |
044179-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6000 (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 A
at 103114341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 319
(P319L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086854]
[ENSMUST00000112846]
[ENSMUST00000112847]
[ENSMUST00000112848]
[ENSMUST00000141573]
[ENSMUST00000170792]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086854
AA Change: P319L
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084065
Gene: ENSMUSG00000046709
AA Change: P319L
| 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: P319L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108467
Gene: ENSMUSG00000046709
AA Change: P319L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112847
AA Change: P319L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108468
Gene: ENSMUSG00000046709
AA Change: P319L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112848
AA Change: P349L
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108469
Gene: ENSMUSG00000046709
AA Change: P349L
| 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: P319L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127193
Gene: ENSMUSG00000046709
AA Change: P319L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
C |
16: 88,556,427 (GRCm39) |
C214R |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,475 (GRCm39) |
K3920* |
probably null |
Het |
| Alox12b |
A |
G |
11: 69,060,394 (GRCm39) |
D650G |
probably damaging |
Het |
| Amt |
A |
T |
9: 108,178,684 (GRCm39) |
Y400F |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,934 (GRCm39) |
S1973P |
possibly damaging |
Het |
| Aoc1 |
A |
T |
6: 48,884,573 (GRCm39) |
T539S |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Ccdc15 |
C |
T |
9: 37,227,060 (GRCm39) |
G292S |
probably benign |
Het |
| Ccdc162 |
C |
T |
10: 41,437,159 (GRCm39) |
C287Y |
possibly damaging |
Het |
| Ccn6 |
T |
C |
10: 39,034,296 (GRCm39) |
Y102C |
probably damaging |
Het |
| Cdk15 |
G |
A |
1: 59,328,818 (GRCm39) |
G244D |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,377,649 (GRCm39) |
Y1560N |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
| Cic |
A |
C |
7: 24,971,423 (GRCm39) |
I385L |
probably benign |
Het |
| Cobl |
A |
T |
11: 12,319,684 (GRCm39) |
F231L |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
| Csnk1g2 |
T |
A |
10: 80,474,778 (GRCm39) |
V305E |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,296,050 (GRCm39) |
|
probably null |
Het |
| Dner |
A |
T |
1: 84,361,650 (GRCm39) |
M653K |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,251,304 (GRCm39) |
M4311K |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,067 (GRCm39) |
S2200P |
unknown |
Het |
| Ephb2 |
A |
T |
4: 136,411,341 (GRCm39) |
S440T |
possibly damaging |
Het |
| Ercc1 |
A |
T |
7: 19,081,086 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,375,142 (GRCm39) |
N615Y |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,038 (GRCm39) |
Y487H |
possibly damaging |
Het |
| Gucy1b2 |
A |
T |
14: 62,656,499 (GRCm39) |
I286N |
probably benign |
Het |
| Hr |
A |
G |
14: 70,805,273 (GRCm39) |
D1005G |
probably damaging |
Het |
| Ifrd1 |
C |
A |
12: 40,266,243 (GRCm39) |
V117F |
possibly damaging |
Het |
| Ift140 |
A |
T |
17: 25,255,934 (GRCm39) |
T210S |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,805 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
T |
2: 119,204,989 (GRCm39) |
S1512R |
probably benign |
Het |
| Intu |
A |
T |
3: 40,608,578 (GRCm39) |
K197* |
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,294,424 (GRCm39) |
L1216P |
unknown |
Het |
| Klrb1c |
T |
G |
6: 128,761,120 (GRCm39) |
D169A |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,519,698 (GRCm39) |
T162S |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,998,281 (GRCm39) |
T702A |
probably benign |
Het |
| Mstn |
C |
T |
1: 53,100,828 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,387,242 (GRCm39) |
S706P |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,766 (GRCm39) |
T579I |
probably damaging |
Het |
| Or13p3 |
A |
T |
4: 118,567,441 (GRCm39) |
N279I |
probably damaging |
Het |
| Or4a27 |
C |
A |
2: 88,559,575 (GRCm39) |
A123S |
probably damaging |
Het |
| Or8s16 |
G |
A |
15: 98,211,317 (GRCm39) |
T38I |
probably benign |
Het |
| Pcdh18 |
A |
C |
3: 49,708,913 (GRCm39) |
S801A |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,848,204 (GRCm39) |
D874E |
probably damaging |
Het |
| Pfdn6 |
G |
T |
17: 34,158,589 (GRCm39) |
P62T |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,900,427 (GRCm39) |
I38T |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,647,561 (GRCm39) |
I3662F |
possibly damaging |
Het |
| Psg26 |
A |
T |
7: 18,216,617 (GRCm39) |
L74* |
probably null |
Het |
| Rassf6 |
A |
G |
5: 90,751,736 (GRCm39) |
V341A |
probably damaging |
Het |
| Rsad2 |
C |
A |
12: 26,497,150 (GRCm39) |
|
probably null |
Het |
| Rwdd3 |
A |
G |
3: 120,950,162 (GRCm39) |
Y95H |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,492,457 (GRCm39) |
I589V |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,434,704 (GRCm39) |
I131N |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,148,239 (GRCm39) |
S389P |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,281,296 (GRCm39) |
I29N |
probably damaging |
Het |
| Tmem63c |
C |
A |
12: 87,103,971 (GRCm39) |
N73K |
probably damaging |
Het |
| Tpm2 |
T |
A |
4: 43,518,301 (GRCm39) |
|
probably null |
Het |
| Trak2 |
A |
T |
1: 58,950,971 (GRCm39) |
D405E |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,575,516 (GRCm39) |
A23380S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,715,495 (GRCm39) |
|
probably benign |
Het |
| Tub |
T |
C |
7: 108,628,857 (GRCm39) |
S391P |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,223 (GRCm39) |
E178* |
probably null |
Het |
| Vamp9 |
G |
T |
5: 100,089,226 (GRCm39) |
A164S |
probably benign |
Het |
| Ylpm1 |
C |
A |
12: 85,044,030 (GRCm39) |
T256K |
unknown |
Het |
| Zfp1007 |
A |
G |
5: 109,824,730 (GRCm39) |
V240A |
probably benign |
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 |
|
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'- ACAGGAACAGAGTCTTCTTCTCTAC -3'
(R):5'- AAGTGGGAGAGTTCCTGGTC -3'
Sequencing Primer
(F):5'- AGTAAGAGTGTTCCCCATAGGCC -3'
(R):5'- AGAGTTCCTGGTCTGCACC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation