Incidental Mutation 'R8736:Mapk4'
| ID |
663052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk4
|
| Ensembl Gene |
ENSMUSG00000024558 |
| Gene Name |
mitogen-activated protein kinase 4 |
| Synonyms |
p63Mapk, A330097D03Rik, Erk3-related |
| MMRRC Submission |
068617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
74061557-74198430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74103396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 38
(T38A)
|
| 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: T38A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000089462
Gene: ENSMUSG00000024558
AA Change: T38A
| 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: T38A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000123922
Gene: ENSMUSG00000024558
AA Change: T38A
| 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
AA Change: T38A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124408
Gene: ENSMUSG00000024558
AA Change: T38A
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.8%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp2 |
T |
A |
11: 78,178,875 (GRCm39) |
S2047T |
probably benign |
Het |
| Ccdc125 |
T |
C |
13: 100,815,833 (GRCm39) |
S100P |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,447 (GRCm39) |
T35A |
unknown |
Het |
| Cul2 |
T |
A |
18: 3,434,019 (GRCm39) |
V672E |
probably damaging |
Het |
| Cyb5a |
C |
A |
18: 84,869,560 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
T |
A |
14: 45,836,642 (GRCm39) |
Y831F |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,995,104 (GRCm39) |
I698T |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,805,621 (GRCm39) |
V1967L |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,972 (GRCm39) |
N177S |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,047 (GRCm39) |
Y242H |
probably damaging |
Het |
| Mab21l2 |
C |
A |
3: 86,454,607 (GRCm39) |
R131L |
probably damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,726 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Mapkapk5 |
G |
A |
5: 121,665,241 (GRCm39) |
A338V |
possibly damaging |
Het |
| Morc2a |
C |
A |
11: 3,631,737 (GRCm39) |
T556K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,462,139 (GRCm39) |
Q7459* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,228,439 (GRCm39) |
T1256A |
possibly damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,384 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or4b12 |
A |
G |
2: 90,095,922 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,309 (GRCm39) |
C256R |
probably damaging |
Het |
| Or7g20 |
G |
T |
9: 18,946,774 (GRCm39) |
M118I |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,358 (GRCm39) |
I199V |
probably benign |
Het |
| Or9s18 |
T |
G |
13: 65,300,538 (GRCm39) |
C167G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,975,464 (GRCm39) |
V701A |
possibly damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,046,261 (GRCm39) |
I918N |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,307,053 (GRCm39) |
S118G |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,184,711 (GRCm39) |
T549A |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,512 (GRCm39) |
I559V |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,141,975 (GRCm39) |
T200A |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,821,105 (GRCm39) |
I488V |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,467,221 (GRCm39) |
M93L |
probably damaging |
Het |
| Zfp870 |
A |
T |
17: 33,104,966 (GRCm39) |
V31E |
possibly 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 |
|
|
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 |
|
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 |
|
Z1176:Mapk4
|
UTSW |
18 |
74,070,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACGCTAAACTTGAAGAGC -3'
(R):5'- TGACAGAATGAGGTGTGCTG -3'
Sequencing Primer
(F):5'- TAAACTTGAAGAGCTCGCCCTG -3'
(R):5'- ACTAGCTGGAACCTGGCCTTTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation