Incidental Mutation 'R8550:Mapk8'
| ID |
659839 |
| 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 |
068515-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.703)
|
| Stock # |
R8550 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33099855-33169115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33124615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 139
(I139N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022504]
[ENSMUST00000111942]
[ENSMUST00000111943]
[ENSMUST00000111944]
[ENSMUST00000111945]
[ENSMUST00000226798]
|
| AlphaFold |
Q91Y86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022504
AA Change: I139N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022504
Gene: ENSMUSG00000021936
AA Change: I139N
| 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 damaging
Transcript: ENSMUST00000111942
AA Change: I139N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107573
Gene: ENSMUSG00000021936
AA Change: I139N
| 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 damaging
Transcript: ENSMUST00000111943
AA Change: I139N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107574
Gene: ENSMUSG00000021936
AA Change: I139N
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.3e-86 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111944
AA Change: I139N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107575
Gene: ENSMUSG00000021936
AA Change: I139N
| 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 damaging
Transcript: ENSMUST00000111945
AA Change: I139N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107576
Gene: ENSMUSG00000021936
AA Change: I139N
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.06e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226798
|
| Meta Mutation Damage Score |
0.9598 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,265,786 (GRCm39) |
K295* |
probably null |
Het |
| AB124611 |
A |
T |
9: 21,451,882 (GRCm39) |
D146V |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,942,599 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,593 (GRCm39) |
T449M |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| C1qc |
C |
T |
4: 136,617,587 (GRCm39) |
V170I |
possibly damaging |
Het |
| Ccl25 |
A |
G |
8: 4,377,890 (GRCm39) |
E50G |
possibly damaging |
Het |
| Clk1 |
A |
T |
1: 58,451,835 (GRCm39) |
Y427N |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,830,772 (GRCm39) |
C1707F |
probably damaging |
Het |
| Cyp4f17 |
G |
A |
17: 32,746,936 (GRCm39) |
V413I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,785,743 (GRCm39) |
W315R |
probably damaging |
Het |
| Degs1l |
A |
T |
1: 180,887,324 (GRCm39) |
D303V |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,290,652 (GRCm39) |
|
probably benign |
Het |
| Eogt |
A |
C |
6: 97,089,033 (GRCm39) |
H524Q |
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,468,182 (GRCm39) |
A270T |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,240,654 (GRCm39) |
|
probably null |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,904 (GRCm39) |
S72R |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,803,064 (GRCm39) |
T7A |
probably damaging |
Het |
| Metap1 |
G |
A |
3: 138,172,077 (GRCm39) |
A280V |
possibly damaging |
Het |
| Mrpl35 |
T |
C |
6: 71,793,259 (GRCm39) |
K131E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,188,924 (GRCm39) |
V802A |
probably benign |
Het |
| Nlrp3 |
T |
G |
11: 59,440,097 (GRCm39) |
V558G |
probably damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,619,842 (GRCm39) |
N148K |
possibly damaging |
Het |
| Or3a1c |
A |
C |
11: 74,046,015 (GRCm39) |
I12L |
probably benign |
Het |
| Padi6 |
T |
C |
4: 140,460,014 (GRCm39) |
K359R |
probably benign |
Het |
| Rexo5 |
A |
G |
7: 119,400,568 (GRCm39) |
T118A |
probably benign |
Het |
| Serpine1 |
A |
G |
5: 137,092,352 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,306,205 (GRCm39) |
I485T |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,511,739 (GRCm39) |
L441F |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,014,774 (GRCm39) |
D418V |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,623,063 (GRCm39) |
V511A |
possibly damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,225 (GRCm39) |
T21A |
probably damaging |
Het |
| Tia1 |
A |
G |
6: 86,402,684 (GRCm39) |
M232V |
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,837,745 (GRCm39) |
T522A |
probably benign |
Het |
| Top2a |
A |
T |
11: 98,886,744 (GRCm39) |
D1336E |
probably benign |
Het |
| Trav3-1 |
A |
C |
14: 52,818,390 (GRCm39) |
R21S |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,689,329 (GRCm39) |
|
probably benign |
Het |
| Vmn1r119 |
A |
T |
7: 20,745,980 (GRCm39) |
V134D |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,400,320 (GRCm39) |
M262T |
probably benign |
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 |
|
R4087:Mapk8
|
UTSW |
14 |
33,112,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
Z1176:Mapk8
|
UTSW |
14 |
33,132,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGGTTTGGTTCCCAGTACC -3'
(R):5'- AGTTTTGCTAGTGCCTATCTGTAGATC -3'
Sequencing Primer
(F):5'- GGCAGCTCACAATTGTCTATAGC -3'
(R):5'- GATCGTTGCTATACACTTTAGCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation