Incidental Mutation 'R8846:Mapk10'
ID |
674702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapk10
|
Ensembl Gene |
ENSMUSG00000046709 |
Gene Name |
mitogen-activated protein kinase 10 |
Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8846 (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 103144521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 129
(F129L)
|
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 |
probably damaging
Transcript: ENSMUST00000086854
AA Change: F99L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084065 Gene: ENSMUSG00000046709 AA Change: F99L
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: F99L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108467 Gene: ENSMUSG00000046709 AA Change: F99L
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112847
AA Change: F99L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108468 Gene: ENSMUSG00000046709 AA Change: F99L
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 damaging
Transcript: ENSMUST00000112848
AA Change: F129L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108469 Gene: ENSMUSG00000046709 AA Change: F129L
Domain | Start | End | E-Value | Type |
S_TKc
|
94 |
389 |
4.37e-88 |
SMART |
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128869
AA Change: F25L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143448 Gene: ENSMUSG00000046709 AA Change: F25L
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
178 |
7.4e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133069
AA Change: F99L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143609 Gene: ENSMUSG00000046709 AA Change: F99L
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
252 |
1.4e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141573
AA Change: F99L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142798 Gene: ENSMUSG00000046709 AA Change: F99L
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
64 |
125 |
1.3e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170792
AA Change: F99L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127193 Gene: ENSMUSG00000046709 AA Change: F99L
Domain | Start | End | E-Value | Type |
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,551,610 (GRCm39) |
I1198F |
possibly damaging |
Het |
Adgrv1 |
C |
T |
13: 81,637,025 (GRCm39) |
|
probably null |
Het |
Adprh |
T |
C |
16: 38,267,775 (GRCm39) |
H170R |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 15,025,956 (GRCm39) |
V820A |
probably benign |
Het |
B3galt1 |
A |
G |
2: 67,948,717 (GRCm39) |
D144G |
probably benign |
Het |
Ccdc88a |
C |
T |
11: 29,414,185 (GRCm39) |
R908C |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,883,480 (GRCm39) |
L106P |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,545,786 (GRCm39) |
D820G |
possibly damaging |
Het |
Gda |
A |
G |
19: 21,389,889 (GRCm39) |
I298T |
probably damaging |
Het |
Gpr84 |
A |
T |
15: 103,218,037 (GRCm39) |
H13Q |
possibly damaging |
Het |
Igdcc4 |
T |
C |
9: 65,037,898 (GRCm39) |
S760P |
probably benign |
Het |
Ighv1-53 |
A |
C |
12: 115,122,165 (GRCm39) |
I70S |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,996 (GRCm39) |
I1768N |
probably damaging |
Het |
Kctd13 |
C |
A |
7: 126,544,191 (GRCm39) |
D296E |
probably benign |
Het |
Krt76 |
A |
G |
15: 101,795,772 (GRCm39) |
I466T |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,379,388 (GRCm39) |
Y1801H |
possibly damaging |
Het |
Myo5b |
G |
A |
18: 74,841,043 (GRCm39) |
E975K |
probably benign |
Het |
Nrtn |
C |
T |
17: 57,058,728 (GRCm39) |
R91H |
possibly damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,255 (GRCm39) |
Y657F |
probably damaging |
Het |
Or1j21 |
T |
A |
2: 36,683,689 (GRCm39) |
V147E |
probably benign |
Het |
Or4d10c |
T |
C |
19: 12,065,433 (GRCm39) |
H241R |
probably damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,625,648 (GRCm39) |
T511A |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
G |
T |
15: 44,410,358 (GRCm39) |
G2622* |
probably null |
Het |
Ppp6r3 |
A |
T |
19: 3,564,654 (GRCm39) |
D206E |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
Rfng |
C |
A |
11: 120,674,972 (GRCm39) |
R6L |
unknown |
Het |
Scrt1 |
A |
T |
15: 76,405,808 (GRCm39) |
V33E |
possibly damaging |
Het |
Siglecg |
A |
T |
7: 43,061,942 (GRCm39) |
I563F |
probably benign |
Het |
Slc1a6 |
G |
A |
10: 78,637,781 (GRCm39) |
A436T |
probably damaging |
Het |
Slc38a9 |
C |
A |
13: 112,859,814 (GRCm39) |
S416* |
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,075,009 (GRCm39) |
S1288P |
possibly damaging |
Het |
Tbce |
A |
G |
13: 14,194,285 (GRCm39) |
|
probably null |
Het |
Tdpoz8 |
A |
T |
3: 92,981,770 (GRCm39) |
I189F |
possibly damaging |
Het |
Topors |
A |
G |
4: 40,262,952 (GRCm39) |
F111L |
probably damaging |
Het |
Vmn1r11 |
T |
C |
6: 57,114,807 (GRCm39) |
M157T |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,867,105 (GRCm39) |
L459P |
|
Het |
Zfp738 |
T |
C |
13: 67,818,155 (GRCm39) |
N612S |
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 |
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 |
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'- TGGGGACAGTAAAACCAAATTCAGC -3'
(R):5'- AGCTGTACCCTGGCAATGTC -3'
Sequencing Primer
(F):5'- GTAAAACCAAATTCAGCACATGAG -3'
(R):5'- CCTGGCAATGTCCCACC -3'
|
Posted On |
2021-07-15 |