Incidental Mutation 'R4487:Mapk4'
| ID |
331673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk4
|
| Ensembl Gene |
ENSMUSG00000024558 |
| Gene Name |
mitogen-activated protein kinase 4 |
| Synonyms |
p63Mapk, A330097D03Rik, Erk3-related |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4487 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
74061557-74198430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74064046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 392
(D392G)
|
| 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: D392G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089462
Gene: ENSMUSG00000024558
AA Change: D392G
| 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 |
probably benign
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 |
0.0677 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCCAGGATGAGCTTGGGTTC -3'
(R):5'- TAGCAGACTTGTGAGTAAAGGC -3'
Sequencing Primer
(F):5'- ATGAGCTTGGGTTCCGAGTAG -3'
(R):5'- CCAGGGATTAGGCGATTTGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation