Incidental Mutation 'IGL01885:Mapk10'
| ID |
179087 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
103056413-103359200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103144455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 121
(K121E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000086854
AA Change: K121E
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084065
Gene: ENSMUSG00000046709
AA Change: K121E
| 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: K121E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108467
Gene: ENSMUSG00000046709
AA Change: K121E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112847
AA Change: K121E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108468
Gene: ENSMUSG00000046709
AA Change: K121E
| 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: K151E
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108469
Gene: ENSMUSG00000046709
AA Change: K151E
| 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: K47E
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143448
Gene: ENSMUSG00000046709
AA Change: K47E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
178 |
7.4e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133069
AA Change: K121E
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143609
Gene: ENSMUSG00000046709
AA Change: K121E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
252 |
1.4e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141573
AA Change: K121E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142798
Gene: ENSMUSG00000046709
AA Change: K121E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
64 |
125 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170792
AA Change: K121E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127193
Gene: ENSMUSG00000046709
AA Change: K121E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,774,575 (GRCm39) |
V568A |
possibly damaging |
Het |
| Abcb11 |
T |
A |
2: 69,117,971 (GRCm39) |
Q469L |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,717,731 (GRCm39) |
G264E |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,862 (GRCm39) |
Y788C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,911,511 (GRCm39) |
F1508I |
possibly damaging |
Het |
| Cd6 |
C |
A |
19: 10,776,601 (GRCm39) |
Q141H |
probably benign |
Het |
| Cercam |
A |
C |
2: 29,771,015 (GRCm39) |
T471P |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,337,301 (GRCm39) |
D729G |
possibly damaging |
Het |
| Dglucy |
T |
A |
12: 100,816,540 (GRCm39) |
F394Y |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,720,004 (GRCm39) |
N512S |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,356,059 (GRCm39) |
C223R |
probably damaging |
Het |
| Gcn1 |
T |
A |
5: 115,714,174 (GRCm39) |
|
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hirip3 |
T |
A |
7: 126,463,381 (GRCm39) |
S446T |
probably benign |
Het |
| Hoxa5 |
A |
T |
6: 52,179,647 (GRCm39) |
F243I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,981,135 (GRCm39) |
R1840* |
probably null |
Het |
| Lbp |
T |
A |
2: 158,166,493 (GRCm39) |
L349Q |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,331,452 (GRCm39) |
I1604T |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,578,521 (GRCm39) |
R1579* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,965,794 (GRCm39) |
D652G |
possibly damaging |
Het |
| Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
| Or5b117 |
G |
A |
19: 13,431,449 (GRCm39) |
T144I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,760 (GRCm39) |
I184V |
probably benign |
Het |
| Ostm1 |
C |
T |
10: 42,574,147 (GRCm39) |
S280L |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,167,388 (GRCm39) |
R180K |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,947,837 (GRCm39) |
Y515C |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,455 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
C |
T |
17: 42,814,493 (GRCm39) |
T798I |
probably damaging |
Het |
| Rnf41 |
A |
T |
10: 128,271,344 (GRCm39) |
N85Y |
probably damaging |
Het |
| Shisa7 |
A |
T |
7: 4,833,825 (GRCm39) |
H323Q |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,951,629 (GRCm39) |
M386K |
probably damaging |
Het |
| St18 |
G |
A |
1: 6,914,596 (GRCm39) |
|
probably null |
Het |
| Stra6 |
T |
A |
9: 58,048,431 (GRCm39) |
L175M |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,389 (GRCm39) |
L600P |
probably damaging |
Het |
| Try5 |
G |
T |
6: 41,288,672 (GRCm39) |
N182K |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo7 |
G |
A |
14: 70,903,475 (GRCm39) |
T1078I |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,386 (GRCm39) |
T931I |
unknown |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation