Incidental Mutation 'R4514:Mapk14'
| ID |
332822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk14
|
| Ensembl Gene |
ENSMUSG00000053436 |
| Gene Name |
mitogen-activated protein kinase 14 |
| Synonyms |
p38 MAP Kinase, Mxi2, CSBP2, p38 MAP kinase alpha, p38alpha, p38-alpha, p38, Csbp1, Crk1, p38a, p38 MAPK, p38 alpha, p38MAPK |
| MMRRC Submission |
041588-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4514 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28910303-28967380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28943798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 129
(F129S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004990]
[ENSMUST00000062694]
[ENSMUST00000114752]
[ENSMUST00000114754]
[ENSMUST00000114758]
[ENSMUST00000124886]
|
| AlphaFold |
P47811 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004990
AA Change: F129S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004990
Gene: ENSMUSG00000053436
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
308 |
3.46e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062694
AA Change: F129S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061958
Gene: ENSMUSG00000053436
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
308 |
7.42e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114752
AA Change: F52S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110400
Gene: ENSMUSG00000053436
AA Change: F52S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
193 |
7.3e-22 |
PFAM |
|
Pfam:Pkinase
|
1 |
231 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114754
AA Change: F52S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110402
Gene: ENSMUSG00000053436
AA Change: F52S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
193 |
7.3e-22 |
PFAM |
|
Pfam:Pkinase
|
1 |
231 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114758
AA Change: F129S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110406
Gene: ENSMUSG00000053436
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
24 |
242 |
3.8e-32 |
PFAM |
|
Pfam:Pkinase
|
24 |
257 |
9.4e-65 |
PFAM |
|
Pfam:Kdo
|
40 |
181 |
3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124886
AA Change: F129S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116914
Gene: ENSMUSG00000053436
AA Change: F129S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
24 |
203 |
3.9e-50 |
PFAM |
|
Pfam:Pkinase_Tyr
|
24 |
203 |
1.9e-25 |
PFAM |
|
Pfam:Kdo
|
39 |
181 |
3.9e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.9250 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point 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 activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for various null mutations are embryonic to perinatal lethal showing multiple organ system defects. Mice homozygous for a knock-out mutation exhibit abnormal myoblast differentiation and delayed myofiber growth and maturation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(20) : Targeted, knock-out(4) Targeted, other(9) Gene trapped(7) |
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
G |
8: 25,308,152 (GRCm39) |
T51P |
probably damaging |
Het |
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,006,745 (GRCm39) |
T155S |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,404,339 (GRCm39) |
Q1334L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,968,518 (GRCm39) |
T1055M |
probably damaging |
Het |
| Cd3g |
C |
A |
9: 44,884,882 (GRCm39) |
A121S |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,378,046 (GRCm39) |
I618T |
probably benign |
Het |
| Cp |
A |
G |
3: 20,042,177 (GRCm39) |
M982V |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,933,653 (GRCm39) |
S611T |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,997 (GRCm39) |
T168A |
unknown |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Defb34 |
A |
T |
8: 19,176,522 (GRCm39) |
D71V |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,623,573 (GRCm39) |
D3615E |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,666,709 (GRCm39) |
T167S |
probably damaging |
Het |
| F5 |
T |
A |
1: 163,979,566 (GRCm39) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,265 (GRCm39) |
T559A |
possibly damaging |
Het |
| Ifit1 |
A |
T |
19: 34,625,913 (GRCm39) |
R350* |
probably null |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,216 (GRCm39) |
N79S |
possibly damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,202 (GRCm39) |
T235A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,251 (GRCm39) |
I1081V |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,627,819 (GRCm39) |
C55F |
probably damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,160,402 (GRCm39) |
T311A |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mocos |
T |
A |
18: 24,816,269 (GRCm39) |
S615R |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,146,395 (GRCm39) |
V1456A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,648,200 (GRCm39) |
I1759V |
probably benign |
Het |
| Nat8f5 |
G |
A |
6: 85,794,405 (GRCm39) |
T185I |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
| Ncam2 |
T |
A |
16: 81,309,884 (GRCm39) |
M458K |
probably benign |
Het |
| Nphp1 |
T |
C |
2: 127,590,007 (GRCm39) |
S532G |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
| Or4p22 |
T |
C |
2: 88,317,709 (GRCm39) |
V211A |
probably benign |
Het |
| Or52h2 |
C |
T |
7: 103,838,598 (GRCm39) |
R272H |
probably benign |
Het |
| Pask |
T |
A |
1: 93,249,855 (GRCm39) |
Q515L |
probably benign |
Het |
| Poglut1 |
A |
T |
16: 38,369,778 (GRCm39) |
F35I |
probably benign |
Het |
| Ppp1ca |
T |
G |
19: 4,245,054 (GRCm39) |
I319S |
probably benign |
Het |
| Psg25 |
T |
A |
7: 18,263,533 (GRCm39) |
R97* |
probably null |
Het |
| Sars2 |
T |
C |
7: 28,441,709 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,992 (GRCm39) |
F292L |
probably benign |
Het |
| Tmco5 |
T |
A |
2: 116,710,795 (GRCm39) |
D38E |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
| Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,977 (GRCm39) |
I662T |
possibly damaging |
Het |
| Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
probably damaging |
Het |
|
| Other mutations in Mapk14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Mapk14
|
APN |
17 |
28,944,820 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03013:Mapk14
|
APN |
17 |
28,947,323 (GRCm39) |
splice site |
probably benign |
|
|
Hanzhou
|
UTSW |
17 |
28,964,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Wanzhou
|
UTSW |
17 |
28,943,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4043:Mapk14
|
UTSW |
17 |
28,964,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Mapk14
|
UTSW |
17 |
28,910,763 (GRCm39) |
missense |
probably benign |
|
|
R4513:Mapk14
|
UTSW |
17 |
28,943,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Mapk14
|
UTSW |
17 |
28,963,996 (GRCm39) |
splice site |
probably null |
|
|
R4981:Mapk14
|
UTSW |
17 |
28,960,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Mapk14
|
UTSW |
17 |
28,960,817 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7477:Mapk14
|
UTSW |
17 |
28,964,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7792:Mapk14
|
UTSW |
17 |
28,965,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7915:Mapk14
|
UTSW |
17 |
28,947,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8208:Mapk14
|
UTSW |
17 |
28,943,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Mapk14
|
UTSW |
17 |
28,934,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8407:Mapk14
|
UTSW |
17 |
28,963,983 (GRCm39) |
missense |
probably benign |
|
|
R9048:Mapk14
|
UTSW |
17 |
28,947,358 (GRCm39) |
missense |
probably benign |
|
|
R9095:Mapk14
|
UTSW |
17 |
28,934,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Mapk14
|
UTSW |
17 |
28,960,814 (GRCm39) |
missense |
probably benign |
|
|
R9549:Mapk14
|
UTSW |
17 |
28,934,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGCTGGTGTGGTACTTC -3'
(R):5'- ACCAGGTTGTATCAGGATGC -3'
Sequencing Primer
(F):5'- GGTACTTCTTAGGCAGTCTTTCCTG -3'
(R):5'- CCAGGTTGTATCAGGATGCTACTAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation