Incidental Mutation 'R2914:Mapk4'
ID |
254822 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapk4
|
Ensembl Gene |
ENSMUSG00000024558 |
Gene Name |
mitogen-activated protein kinase 4 |
Synonyms |
p63Mapk, A330097D03Rik, Erk3-related |
MMRRC Submission |
040501-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
74061557-74198430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 74068236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 232
(A232T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091851]
[ENSMUST00000159162]
[ENSMUST00000162863]
|
AlphaFold |
Q6P5G0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091851
AA Change: A232T
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000089462 Gene: ENSMUSG00000024558 AA Change: A232T
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
|
SMART Domains |
Protein: ENSMUSP00000123922 Gene: ENSMUSG00000024558
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 |
silent
Transcript: ENSMUST00000162863
|
SMART Domains |
Protein: ENSMUSP00000124408 Gene: ENSMUSG00000024558
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
20 |
192 |
1.7e-41 |
PFAM |
Pfam:Pkinase_Tyr
|
22 |
189 |
5.9e-25 |
PFAM |
|
Meta Mutation Damage Score |
0.0794 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (41/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
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 |
|
IGL02621:Mapk4
|
APN |
18 |
74,103,346 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTGACATTAAAGCCAGAG -3'
(R):5'- CCCAGAAGCAAATCAGTGGTG -3'
Sequencing Primer
(F):5'- TGACATTAAAGCCAGAGCCCAG -3'
(R):5'- TGGAGTGAATATTAGACCCCCAGTC -3'
|
Posted On |
2014-12-29 |