Incidental Mutation 'R7345:Mapk8'
ID |
570162 |
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 |
045379-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.743)
|
Stock # |
R7345 (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 33130068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 63
(N63K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022504
(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: N63K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022504 Gene: ENSMUSG00000021936 AA Change: N63K
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: N63K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107573 Gene: ENSMUSG00000021936 AA Change: N63K
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 |
possibly damaging
Transcript: ENSMUST00000111943
AA Change: N63K
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107574 Gene: ENSMUSG00000021936 AA Change: N63K
Domain | Start | End | E-Value | Type |
S_TKc
|
26 |
321 |
1.3e-86 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111944
AA Change: N63K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107575 Gene: ENSMUSG00000021936 AA Change: N63K
Domain | Start | End | E-Value | Type |
S_TKc
|
26 |
321 |
1.06e-86 |
SMART |
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111945
AA Change: N63K
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107576 Gene: ENSMUSG00000021936 AA Change: N63K
Domain | Start | End | E-Value | Type |
S_TKc
|
26 |
321 |
1.06e-86 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226798
|
Meta Mutation Damage Score |
0.5226 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (55/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anks3 |
A |
G |
16: 4,773,774 (GRCm39) |
M174T |
possibly damaging |
Het |
Arhgap23 |
G |
A |
11: 97,357,304 (GRCm39) |
R934Q |
possibly damaging |
Het |
Atad5 |
T |
C |
11: 79,986,832 (GRCm39) |
S640P |
probably damaging |
Het |
B3galnt2 |
C |
T |
13: 14,155,065 (GRCm39) |
|
probably null |
Het |
B430305J03Rik |
T |
C |
3: 61,271,539 (GRCm39) |
S69G |
unknown |
Het |
Cd163 |
A |
T |
6: 124,295,897 (GRCm39) |
N747I |
possibly damaging |
Het |
Cep126 |
A |
G |
9: 8,099,817 (GRCm39) |
S906P |
probably damaging |
Het |
Cimip2b |
T |
C |
4: 43,428,022 (GRCm39) |
D145G |
possibly damaging |
Het |
Cyp4f39 |
G |
A |
17: 32,705,753 (GRCm39) |
G318R |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,059,129 (GRCm39) |
G257D |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,342,583 (GRCm39) |
L139P |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,511,895 (GRCm39) |
V840A |
probably benign |
Het |
Dnhd1 |
A |
T |
7: 105,353,174 (GRCm39) |
I2776L |
probably benign |
Het |
Fbxo24 |
G |
T |
5: 137,619,523 (GRCm39) |
F234L |
probably damaging |
Het |
Gm21190 |
T |
C |
5: 15,732,902 (GRCm39) |
|
probably null |
Het |
Grhl3 |
C |
T |
4: 135,273,557 (GRCm39) |
R565Q |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,244,842 (GRCm39) |
Y1731N |
probably damaging |
Het |
Il1a |
C |
A |
2: 129,146,693 (GRCm39) |
R133S |
probably benign |
Het |
Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
Klc3 |
G |
A |
7: 19,128,814 (GRCm39) |
T481M |
probably benign |
Het |
Map2k6 |
A |
T |
11: 110,383,734 (GRCm39) |
I127F |
|
Het |
Med13l |
T |
C |
5: 118,880,825 (GRCm39) |
W1306R |
probably damaging |
Het |
Megf6 |
C |
A |
4: 154,351,772 (GRCm39) |
Q1162K |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,841,095 (GRCm39) |
E992G |
possibly damaging |
Het |
Ndst4 |
C |
T |
3: 125,508,308 (GRCm39) |
T291M |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,955,503 (GRCm38) |
F838L |
probably benign |
Het |
Nrm |
A |
G |
17: 36,175,476 (GRCm39) |
H194R |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,230,613 (GRCm39) |
S1384P |
probably benign |
Het |
Olfml2a |
C |
A |
2: 38,850,139 (GRCm39) |
D618E |
probably damaging |
Het |
Or5p78 |
C |
T |
7: 108,212,270 (GRCm39) |
T252I |
probably benign |
Het |
Or8g23 |
A |
G |
9: 38,971,875 (GRCm39) |
L29P |
probably damaging |
Het |
Or8g24 |
G |
A |
9: 38,989,630 (GRCm39) |
S137F |
probably damaging |
Het |
Or9s18 |
A |
C |
13: 65,300,557 (GRCm39) |
N173T |
possibly damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,095 (GRCm39) |
F78S |
possibly damaging |
Het |
Pcdhb18 |
T |
C |
18: 37,624,976 (GRCm39) |
F769L |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,533,304 (GRCm39) |
E144G |
probably damaging |
Het |
Pole |
T |
A |
5: 110,451,769 (GRCm39) |
N870K |
possibly damaging |
Het |
Polr2b |
T |
C |
5: 77,496,966 (GRCm39) |
F1159L |
possibly damaging |
Het |
Pramel32 |
T |
C |
4: 88,546,416 (GRCm39) |
K309E |
possibly damaging |
Het |
Rubcnl |
A |
G |
14: 75,279,793 (GRCm39) |
Y392C |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
Serpinh1 |
A |
C |
7: 98,995,563 (GRCm39) |
S340A |
probably damaging |
Het |
Slc1a5 |
T |
A |
7: 16,530,085 (GRCm39) |
|
probably null |
Het |
Soat2 |
A |
G |
15: 102,071,013 (GRCm39) |
D469G |
probably benign |
Het |
Speg |
T |
C |
1: 75,361,479 (GRCm39) |
L70P |
probably damaging |
Het |
Spred2 |
T |
C |
11: 19,874,958 (GRCm39) |
|
probably null |
Het |
Stac2 |
A |
C |
11: 97,933,439 (GRCm39) |
S168A |
probably damaging |
Het |
Stx1a |
T |
A |
5: 135,066,042 (GRCm39) |
D31E |
probably benign |
Het |
Timeless |
C |
T |
10: 128,085,623 (GRCm39) |
T885M |
probably damaging |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Tsen34 |
T |
C |
7: 3,698,614 (GRCm39) |
Y253H |
probably damaging |
Het |
Unc13b |
T |
C |
4: 43,173,966 (GRCm39) |
V1598A |
unknown |
Het |
Zfat |
A |
T |
15: 67,976,892 (GRCm39) |
Y1086N |
probably damaging |
Het |
Zfp551 |
G |
A |
7: 12,150,522 (GRCm39) |
H296Y |
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 |
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'- CTTTTGCTACTACTTAATAACGGGG -3'
(R):5'- TGCCCACATACACTCAGTGG -3'
Sequencing Primer
(F):5'- CTACTACTTAATAACGGGGGTGGAG -3'
(R):5'- CACATACACTCAGTGGATCTTGGG -3'
|
Posted On |
2019-09-13 |