Incidental Mutation 'IGL02621:Mapk4'
ID |
300859 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mapk4
|
Ensembl Gene |
ENSMUSG00000024558 |
Gene Name |
mitogen-activated protein kinase 4 |
Synonyms |
p63Mapk, A330097D03Rik, Erk3-related |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02621
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
74061557-74198430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74103346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 54
(S54R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091851]
[ENSMUST00000159162]
[ENSMUST00000162863]
|
AlphaFold |
Q6P5G0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091851
AA Change: S54R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089462 Gene: ENSMUSG00000024558 AA Change: S54R
Domain | Start | End | E-Value | Type |
S_TKc
|
20 |
312 |
3.81e-79 |
SMART |
low complexity region
|
462 |
478 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159162
AA Change: S54R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000123922 Gene: ENSMUSG00000024558 AA Change: S54R
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
20 |
232 |
2.3e-58 |
PFAM |
Pfam:Pkinase_Tyr
|
22 |
232 |
5.5e-30 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160601
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162863
AA Change: S54R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124408 Gene: ENSMUSG00000024558 AA Change: S54R
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
20 |
192 |
1.7e-41 |
PFAM |
Pfam:Pkinase_Tyr
|
22 |
189 |
5.9e-25 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] PHENOTYPE: Mice homozygous for a knock-out allele are viabel and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002L01Rik |
C |
A |
12: 3,476,688 (GRCm39) |
|
probably benign |
Het |
2210408I21Rik |
T |
C |
13: 77,408,150 (GRCm39) |
I159T |
possibly damaging |
Het |
Agpat3 |
T |
A |
10: 78,120,900 (GRCm39) |
I93F |
probably damaging |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Atr |
G |
A |
9: 95,790,453 (GRCm39) |
A1598T |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,095,633 (GRCm39) |
|
probably benign |
Het |
Clk1 |
T |
C |
1: 58,453,614 (GRCm39) |
D324G |
probably damaging |
Het |
Cntnap4 |
A |
T |
8: 113,537,355 (GRCm39) |
D742V |
probably damaging |
Het |
Esrrb |
A |
G |
12: 86,468,735 (GRCm39) |
N16S |
probably benign |
Het |
Grm1 |
A |
T |
10: 10,564,755 (GRCm39) |
Y1184* |
probably null |
Het |
Hint1 |
G |
T |
11: 54,761,011 (GRCm39) |
|
probably benign |
Het |
Itch |
A |
T |
2: 155,014,504 (GRCm39) |
|
probably null |
Het |
Lmod3 |
T |
C |
6: 97,215,796 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
C |
A |
17: 12,482,900 (GRCm39) |
A606S |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,601,214 (GRCm39) |
D807G |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,325,326 (GRCm39) |
T398A |
possibly damaging |
Het |
Nme8 |
T |
G |
13: 19,859,818 (GRCm39) |
K28N |
probably damaging |
Het |
Pamr1 |
A |
G |
2: 102,464,688 (GRCm39) |
N279S |
probably benign |
Het |
Pcca |
A |
T |
14: 122,922,391 (GRCm39) |
D384V |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,711,909 (GRCm39) |
I239N |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,798,131 (GRCm39) |
T1375A |
probably benign |
Het |
Ptk2 |
A |
C |
15: 73,077,994 (GRCm39) |
L1024R |
probably damaging |
Het |
Rere |
G |
A |
4: 150,698,269 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,579,223 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
A |
15: 32,538,802 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
A |
T |
4: 59,062,668 (GRCm39) |
W863R |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,097,879 (GRCm39) |
W9R |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,187,741 (GRCm39) |
M533L |
probably benign |
Het |
Ttll4 |
T |
A |
1: 74,726,643 (GRCm39) |
S720T |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,780 (GRCm39) |
R212S |
probably damaging |
Het |
Vmn2r114 |
T |
C |
17: 23,529,494 (GRCm39) |
I203V |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
|
Other mutations in Mapk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02396:Mapk4
|
APN |
18 |
74,067,068 (GRCm39) |
splice site |
probably null |
|
IGL03068:Mapk4
|
APN |
18 |
74,103,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R0041:Mapk4
|
UTSW |
18 |
74,068,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R0519:Mapk4
|
UTSW |
18 |
74,103,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R0636:Mapk4
|
UTSW |
18 |
74,063,525 (GRCm39) |
missense |
probably benign |
|
R0918:Mapk4
|
UTSW |
18 |
74,103,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Mapk4
|
UTSW |
18 |
74,064,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R2913:Mapk4
|
UTSW |
18 |
74,068,236 (GRCm39) |
missense |
probably benign |
0.34 |
R2914:Mapk4
|
UTSW |
18 |
74,068,236 (GRCm39) |
missense |
probably benign |
0.34 |
R4089:Mapk4
|
UTSW |
18 |
74,063,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R4414:Mapk4
|
UTSW |
18 |
74,063,609 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4487:Mapk4
|
UTSW |
18 |
74,064,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Mapk4
|
UTSW |
18 |
74,070,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R5445:Mapk4
|
UTSW |
18 |
74,064,073 (GRCm39) |
missense |
probably benign |
0.00 |
R5597:Mapk4
|
UTSW |
18 |
74,070,341 (GRCm39) |
missense |
probably benign |
0.12 |
R5654:Mapk4
|
UTSW |
18 |
74,103,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R6700:Mapk4
|
UTSW |
18 |
74,063,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R6793:Mapk4
|
UTSW |
18 |
74,063,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R7200:Mapk4
|
UTSW |
18 |
74,063,990 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7335:Mapk4
|
UTSW |
18 |
74,070,338 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8010:Mapk4
|
UTSW |
18 |
74,063,647 (GRCm39) |
missense |
probably benign |
0.04 |
R8269:Mapk4
|
UTSW |
18 |
74,063,622 (GRCm39) |
missense |
probably damaging |
0.99 |
R8736:Mapk4
|
UTSW |
18 |
74,103,396 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Mapk4
|
UTSW |
18 |
74,070,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |