Incidental Mutation 'R7460:Mapk10'
| ID |
578379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk10
|
| Ensembl Gene |
ENSMUSG00000046709 |
| Gene Name |
mitogen-activated protein kinase 10 |
| Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
| MMRRC Submission |
045534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
103056413-103359200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103186443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 90
(V90I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086854]
[ENSMUST00000112846]
[ENSMUST00000112847]
[ENSMUST00000112848]
[ENSMUST00000133069]
[ENSMUST00000141573]
[ENSMUST00000170792]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086854
AA Change: V60I
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000084065
Gene: ENSMUSG00000046709
AA Change: V60I
| 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: V60I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108467
Gene: ENSMUSG00000046709
AA Change: V60I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112847
AA Change: V60I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108468
Gene: ENSMUSG00000046709
AA Change: V60I
| 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
AA Change: V90I
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108469
Gene: ENSMUSG00000046709
AA Change: V90I
| 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: ENSMUST00000133069
AA Change: V60I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143609
Gene: ENSMUSG00000046709
AA Change: V60I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
252 |
1.4e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141573
AA Change: V60I
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142798
Gene: ENSMUSG00000046709
AA Change: V60I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
64 |
125 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170792
AA Change: V60I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000127193
Gene: ENSMUSG00000046709
AA Change: V60I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
T |
A |
1: 60,473,466 (GRCm39) |
V61D |
probably damaging |
Het |
| Agrn |
C |
A |
4: 156,258,881 (GRCm39) |
V915L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,040,212 (GRCm39) |
V476A |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,837,861 (GRCm39) |
L720P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,002,660 (GRCm39) |
R343S |
probably benign |
Het |
| Atxn3 |
T |
A |
12: 101,892,776 (GRCm39) |
T313S |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,932,457 (GRCm39) |
E76G |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,762 (GRCm39) |
F610I |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,348,923 (GRCm39) |
V58D |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,247 (GRCm39) |
D2011G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,275 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,281,440 (GRCm39) |
|
probably null |
Het |
| Disp2 |
A |
G |
2: 118,620,261 (GRCm39) |
H331R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,679 (GRCm39) |
T1279A |
probably benign |
Het |
| Dync1i2 |
T |
C |
2: 71,081,230 (GRCm39) |
I473T |
probably damaging |
Het |
| Fam114a1 |
T |
G |
5: 65,196,050 (GRCm39) |
V520G |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,169,789 (GRCm39) |
D2990V |
probably damaging |
Het |
| Fbh1 |
C |
T |
2: 11,761,496 (GRCm39) |
G597D |
probably benign |
Het |
| Fdxr |
A |
C |
11: 115,167,680 (GRCm39) |
S12A |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,914,105 (GRCm39) |
R9W |
possibly damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,656 (GRCm39) |
D103V |
|
Het |
| Hepacam2 |
G |
A |
6: 3,487,199 (GRCm39) |
P53S |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,131,847 (GRCm39) |
N625D |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,052,815 (GRCm39) |
T21A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,074,013 (GRCm39) |
C930R |
|
Het |
| Lrp1b |
T |
C |
2: 40,488,478 (GRCm39) |
T4536A |
|
Het |
| Lrrc27 |
T |
A |
7: 138,803,574 (GRCm39) |
V166E |
probably damaging |
Het |
| Mfsd14b |
C |
T |
13: 65,219,837 (GRCm39) |
G339D |
probably damaging |
Het |
| Mnt |
T |
A |
11: 74,734,109 (GRCm39) |
M580K |
unknown |
Het |
| Mrc1 |
T |
C |
2: 14,253,680 (GRCm39) |
S234P |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,433,811 (GRCm39) |
V75I |
not run |
Het |
| Mrtfb |
G |
T |
16: 13,218,840 (GRCm39) |
Q495H |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,807,913 (GRCm39) |
D1845G |
probably damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,672 (GRCm39) |
I231F |
probably damaging |
Het |
| Or51a25 |
A |
T |
7: 102,373,028 (GRCm39) |
M223K |
probably benign |
Het |
| Or7a40 |
C |
A |
16: 16,491,030 (GRCm39) |
A272S |
possibly damaging |
Het |
| Or8b3 |
T |
C |
9: 38,314,649 (GRCm39) |
S160P |
possibly damaging |
Het |
| Pdhx |
G |
A |
2: 102,877,124 (GRCm39) |
T95M |
probably damaging |
Het |
| Pigb |
C |
T |
9: 72,945,957 (GRCm39) |
V72I |
probably damaging |
Het |
| Prr7 |
C |
A |
13: 55,620,166 (GRCm39) |
P110Q |
unknown |
Het |
| Psg22 |
A |
G |
7: 18,458,329 (GRCm39) |
D340G |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,212,301 (GRCm39) |
S908P |
probably benign |
Het |
| Ros1 |
T |
C |
10: 51,994,299 (GRCm39) |
Y1348C |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,376,963 (GRCm39) |
I506T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,720,596 (GRCm39) |
Y2684F |
probably benign |
Het |
| Sdr16c6 |
A |
G |
4: 4,076,575 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,993,545 (GRCm39) |
T743A |
possibly damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,434,014 (GRCm39) |
I275V |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,134,674 (GRCm39) |
I467T |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,226,363 (GRCm39) |
D1016G |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,554,933 (GRCm39) |
V317A |
|
Het |
| Tle3 |
A |
G |
9: 61,320,366 (GRCm39) |
H598R |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,694,949 (GRCm39) |
L341P |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Trappc14 |
G |
A |
5: 138,260,991 (GRCm39) |
T218M |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,249,168 (GRCm39) |
D866V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,581,617 (GRCm39) |
I23092T |
probably damaging |
Het |
| U2surp |
C |
A |
9: 95,344,877 (GRCm39) |
V944L |
unknown |
Het |
| Urgcp |
T |
C |
11: 5,666,622 (GRCm39) |
H615R |
possibly damaging |
Het |
| Vps45 |
T |
A |
3: 95,955,699 (GRCm39) |
Y97F |
probably benign |
Het |
| Zc3h12c |
T |
C |
9: 52,055,402 (GRCm39) |
T136A |
probably benign |
Het |
| Zfp948 |
A |
T |
17: 21,808,677 (GRCm39) |
H623L |
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 |
|
|
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 |
|
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'- TTGTCCCTGTCCGCAGATAC -3'
(R):5'- CAGATGCGTGTAACCATCGG -3'
Sequencing Primer
(F):5'- CCTGTCCGCAGATACAGTTG -3'
(R):5'- CGGAAGAAAAGACTTCTCTGTGTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation