Incidental Mutation 'R4087:Mapk8'
| ID |
317430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk8
|
| Ensembl Gene |
ENSMUSG00000021936 |
| Gene Name |
mitogen-activated protein kinase 8 |
| Synonyms |
c-Jun N-terminal kinase, Prkm8, JNK1 |
| MMRRC Submission |
040980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
R4087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33099855-33169115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33112205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 228
(T228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022504]
[ENSMUST00000111942]
[ENSMUST00000111943]
[ENSMUST00000111944]
[ENSMUST00000111945]
[ENSMUST00000226798]
|
| AlphaFold |
Q91Y86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022504
AA Change: T228A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022504
Gene: ENSMUSG00000021936
AA Change: T228A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.3e-86 |
SMART |
|
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111942
|
| SMART Domains |
Protein: ENSMUSP00000107573
Gene: ENSMUSG00000021936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
26 |
208 |
1.8e-25 |
PFAM |
|
Pfam:Pkinase
|
26 |
210 |
5.2e-48 |
PFAM |
|
Pfam:Kdo
|
33 |
178 |
6.4e-9 |
PFAM |
|
SCOP:d1pme__
|
216 |
286 |
2e-17 |
SMART |
|
PDB:3GP0|A
|
218 |
288 |
4e-11 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111943
AA Change: T228A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107574
Gene: ENSMUSG00000021936
AA Change: T228A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.3e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111944
|
| SMART Domains |
Protein: ENSMUSP00000107575
Gene: ENSMUSG00000021936
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.06e-86 |
SMART |
|
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111945
|
| SMART Domains |
Protein: ENSMUSP00000107576
Gene: ENSMUSG00000021936
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.06e-86 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226798
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
96% (50/52) |
| 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 cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal T cell differentiation and proliferation, cardiac morphology and physiology, and chemically-induced tumorigenesis. Mice homozygous for another knock-out allele exhibit abnormal glucose homeostasis and T cell physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Col6a6 |
A |
T |
9: 105,661,155 (GRCm39) |
I318N |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,363,172 (GRCm39) |
Y559N |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,248 (GRCm39) |
V59A |
possibly damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,333 (GRCm39) |
R697Q |
probably damaging |
Het |
| Fermt3 |
T |
A |
19: 6,980,945 (GRCm39) |
|
probably null |
Het |
| Git2 |
A |
G |
5: 114,902,466 (GRCm39) |
Y189H |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm7713 |
C |
T |
15: 59,866,258 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,691 (GRCm39) |
Q925* |
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,110,428 (GRCm39) |
I213T |
possibly damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,495,728 (GRCm39) |
I306F |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,205,342 (GRCm39) |
V2101A |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,375,771 (GRCm39) |
K19E |
possibly damaging |
Het |
| Mta1 |
A |
G |
12: 113,075,802 (GRCm39) |
Y22C |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,087 (GRCm39) |
T273A |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,803,409 (GRCm39) |
W1443R |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,697 (GRCm39) |
D32V |
probably damaging |
Het |
| Or8k36-ps1 |
C |
A |
2: 86,437,297 (GRCm39) |
*206L |
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Rnf144a |
C |
T |
12: 26,377,591 (GRCm39) |
V51I |
probably damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,552,256 (GRCm39) |
T682S |
probably damaging |
Het |
| Sertad2 |
GCCCC |
GCCCCC |
11: 20,598,664 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 111,979,920 (GRCm39) |
Q256* |
probably null |
Het |
| Tmprss11d |
A |
T |
5: 86,457,138 (GRCm39) |
S174T |
probably damaging |
Het |
| Tor1b |
T |
A |
2: 30,846,531 (GRCm39) |
I238N |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,957 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,350,651 (GRCm39) |
N46S |
possibly damaging |
Het |
| Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,357,380 (GRCm39) |
|
probably null |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
|
| Other mutations in Mapk8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01478:Mapk8
|
APN |
14 |
33,105,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
daughter
|
UTSW |
14 |
33,112,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
son
|
UTSW |
14 |
33,124,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Mapk8
|
UTSW |
14 |
33,109,264 (GRCm39) |
splice site |
probably benign |
|
|
R0401:Mapk8
|
UTSW |
14 |
33,104,165 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0862:Mapk8
|
UTSW |
14 |
33,114,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0864:Mapk8
|
UTSW |
14 |
33,114,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1084:Mapk8
|
UTSW |
14 |
33,110,760 (GRCm39) |
nonsense |
probably null |
|
|
R1637:Mapk8
|
UTSW |
14 |
33,132,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2038:Mapk8
|
UTSW |
14 |
33,110,893 (GRCm39) |
nonsense |
probably null |
|
|
R3959:Mapk8
|
UTSW |
14 |
33,104,210 (GRCm39) |
missense |
probably null |
0.21 |
|
R4181:Mapk8
|
UTSW |
14 |
33,104,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4183:Mapk8
|
UTSW |
14 |
33,104,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4184:Mapk8
|
UTSW |
14 |
33,104,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Mapk8
|
UTSW |
14 |
33,112,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6076:Mapk8
|
UTSW |
14 |
33,112,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Mapk8
|
UTSW |
14 |
33,132,841 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7345:Mapk8
|
UTSW |
14 |
33,130,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7814:Mapk8
|
UTSW |
14 |
33,132,834 (GRCm39) |
nonsense |
probably null |
|
|
R8194:Mapk8
|
UTSW |
14 |
33,104,241 (GRCm39) |
missense |
probably benign |
|
|
R8550:Mapk8
|
UTSW |
14 |
33,124,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mapk8
|
UTSW |
14 |
33,132,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTATGAATTAACCACACTTGAGAC -3'
(R):5'- GTCAGCACATTCACCGTCATTC -3'
Sequencing Primer
(F):5'- GAATTAACCACACTTGAGACCTTTTC -3'
(R):5'- ACATTCACCGTCATTCATTTTTATTT -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation