Incidental Mutation 'R7935:Mapk10'
| ID |
648671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk10
|
| Ensembl Gene |
ENSMUSG00000046709 |
| Gene Name |
mitogen-activated protein kinase 10 |
| Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
| MMRRC Submission |
045981-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7935 (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 G
at 103139792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 153
(I153T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108469
(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 |
possibly damaging
Transcript: ENSMUST00000086854
AA Change: I123T
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084065
Gene: ENSMUSG00000046709
AA Change: I123T
| 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: I123T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108467
Gene: ENSMUSG00000046709
AA Change: I123T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112847
AA Change: I123T
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108468
Gene: ENSMUSG00000046709
AA Change: I123T
| 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: I153T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108469
Gene: ENSMUSG00000046709
AA Change: I153T
| 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
AA Change: I49T
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143448
Gene: ENSMUSG00000046709
AA Change: I49T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
178 |
7.4e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133069
AA Change: I123T
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143609
Gene: ENSMUSG00000046709
AA Change: I123T
| 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
AA Change: I123T
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127193
Gene: ENSMUSG00000046709
AA Change: I123T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,308,732 (GRCm39) |
V124A |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,904,186 (GRCm39) |
M746V |
possibly damaging |
Het |
| Aldh18a1 |
G |
T |
19: 40,562,226 (GRCm39) |
S266* |
probably null |
Het |
| Aldh1b1 |
C |
A |
4: 45,802,968 (GRCm39) |
H169N |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,476,709 (GRCm39) |
I756T |
possibly damaging |
Het |
| Asb16 |
A |
T |
11: 102,168,739 (GRCm39) |
E405V |
probably benign |
Het |
| B4galnt1 |
T |
A |
10: 127,007,490 (GRCm39) |
F464I |
probably damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,975 (GRCm39) |
I225V |
probably benign |
Het |
| Brox |
T |
C |
1: 183,062,484 (GRCm39) |
E290G |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,020,333 (GRCm39) |
V790D |
possibly damaging |
Het |
| Cacng6 |
G |
T |
7: 3,473,384 (GRCm39) |
K69N |
possibly damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,895,344 (GRCm39) |
I503T |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,852,205 (GRCm39) |
N814D |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,706,840 (GRCm39) |
M1108L |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,149,373 (GRCm39) |
N449S |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,919,270 (GRCm39) |
E656G |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 118,018,048 (GRCm39) |
M149K |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,944,262 (GRCm39) |
M10L |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,329,486 (GRCm39) |
L4838P |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,824,082 (GRCm39) |
I55N |
probably damaging |
Het |
| Gm10750 |
A |
G |
2: 148,858,017 (GRCm39) |
L78P |
unknown |
Het |
| Gulo |
T |
G |
14: 66,237,288 (GRCm39) |
K200Q |
probably benign |
Het |
| Jmjd8 |
T |
A |
17: 26,048,071 (GRCm39) |
L56Q |
probably benign |
Het |
| Kansl1 |
G |
T |
11: 104,315,112 (GRCm39) |
Q309K |
probably damaging |
Het |
| Kcns3 |
A |
C |
12: 11,141,718 (GRCm39) |
L327R |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,400,569 (GRCm39) |
M513I |
unknown |
Het |
| Nbea |
A |
G |
3: 55,966,086 (GRCm39) |
F459L |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,631,644 (GRCm39) |
V1066I |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,651,538 (GRCm39) |
K178E |
probably damaging |
Het |
| Or4b1 |
C |
T |
2: 89,979,928 (GRCm39) |
V141M |
probably benign |
Het |
| Or5au1 |
T |
C |
14: 52,272,645 (GRCm39) |
K308E |
probably benign |
Het |
| Or5d14 |
G |
A |
2: 87,880,290 (GRCm39) |
T226M |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,191,837 (GRCm39) |
A649V |
probably benign |
Het |
| Parp12 |
C |
A |
6: 39,079,612 (GRCm39) |
K299N |
possibly damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,562 (GRCm39) |
D523G |
possibly damaging |
Het |
| Polr2a |
T |
C |
11: 69,638,330 (GRCm39) |
T79A |
probably benign |
Het |
| Ppp1r7 |
T |
C |
1: 93,273,904 (GRCm39) |
S27P |
probably damaging |
Het |
| Pramel42 |
G |
T |
5: 94,685,440 (GRCm39) |
D367Y |
probably damaging |
Het |
| Prol1 |
T |
G |
5: 88,475,874 (GRCm39) |
L88R |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,709,425 (GRCm39) |
Q57R |
possibly damaging |
Het |
| Rdh16 |
A |
G |
10: 127,637,334 (GRCm39) |
I90V |
probably benign |
Het |
| Rock2 |
T |
A |
12: 16,998,558 (GRCm39) |
C275S |
probably damaging |
Het |
| Rp1l1 |
G |
T |
14: 64,268,674 (GRCm39) |
R1420L |
probably damaging |
Het |
| Sav1 |
A |
G |
12: 70,033,481 (GRCm39) |
Y21H |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,612,749 (GRCm39) |
N536S |
probably benign |
Het |
| Serpina9 |
A |
C |
12: 103,964,421 (GRCm39) |
F339V |
probably damaging |
Het |
| Slc6a13 |
T |
G |
6: 121,311,450 (GRCm39) |
L369V |
possibly damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,801,024 (GRCm39) |
F128I |
probably damaging |
Het |
| Smok2a |
A |
T |
17: 13,444,599 (GRCm39) |
I59F |
probably damaging |
Het |
| Spaca9 |
A |
G |
2: 28,583,634 (GRCm39) |
|
probably null |
Het |
| Ssx2ip |
A |
T |
3: 146,124,928 (GRCm39) |
E84D |
probably benign |
Het |
| Syt12 |
A |
T |
19: 4,497,830 (GRCm39) |
V384E |
probably benign |
Het |
| Ticrr |
T |
A |
7: 79,331,584 (GRCm39) |
L727Q |
probably damaging |
Het |
| Tmem170b |
A |
G |
13: 41,781,463 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,201 (GRCm39) |
T161A |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zfp512b |
T |
C |
2: 181,231,689 (GRCm39) |
T164A |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,549 (GRCm39) |
P955S |
probably damaging |
Het |
| Zfp770 |
C |
T |
2: 114,027,305 (GRCm39) |
V255I |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,208 (GRCm39) |
C140* |
probably null |
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 |
|
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'- GTCCCTTTGATCTTGGCAGG -3'
(R):5'- GAACACGAAGACAGGTTTTATGC -3'
Sequencing Primer
(F):5'- ATCTTGGCAGGGAATTTCACC -3'
(R):5'- ACGAAGACAGGTTTTATGCGCTTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation