Incidental Mutation 'R4183:Mapk8'
| ID |
319837 |
| 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 |
041019-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
R4183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33099855-33169115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33104177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 413
(D413G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022504]
[ENSMUST00000111942]
[ENSMUST00000111943]
[ENSMUST00000111944]
[ENSMUST00000111945]
|
| AlphaFold |
Q91Y86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022504
AA Change: D413G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022504
Gene: ENSMUSG00000021936
AA Change: D413G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107574
Gene: ENSMUSG00000021936
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.3e-86 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111944
AA Change: D413G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107575
Gene: ENSMUSG00000021936
AA Change: D413G
| 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: ENSMUST00000150659
|
| Meta Mutation Damage Score |
0.1376 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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 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 |
|---|
| Ankrd11 |
T |
C |
8: 123,626,415 (GRCm39) |
I198V |
possibly damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Arpc2 |
T |
A |
1: 74,287,322 (GRCm39) |
N31K |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,866,990 (GRCm39) |
V139D |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,124,955 (GRCm39) |
K615E |
probably damaging |
Het |
| Ccdc27 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
4: 154,120,763 (GRCm39) |
|
probably benign |
Het |
| Chrnb1 |
T |
C |
11: 69,677,922 (GRCm39) |
M277V |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,960,464 (GRCm39) |
C3317Y |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Degs2 |
T |
C |
12: 108,658,358 (GRCm39) |
K207R |
probably damaging |
Het |
| Fam167a |
T |
C |
14: 63,689,769 (GRCm39) |
V22A |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,831,566 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
T |
C |
7: 118,583,749 (GRCm39) |
D40G |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,451,134 (GRCm39) |
I505T |
probably damaging |
Het |
| Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,848,346 (GRCm39) |
D632G |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,188,964 (GRCm39) |
V33A |
unknown |
Het |
| Me3 |
A |
G |
7: 89,501,038 (GRCm39) |
D583G |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,703,337 (GRCm39) |
T23S |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,570,158 (GRCm39) |
L395P |
probably damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,465,743 (GRCm39) |
V876E |
probably benign |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Or4a39 |
T |
C |
2: 89,236,935 (GRCm39) |
T163A |
probably benign |
Het |
| Or51v8 |
T |
C |
7: 103,320,178 (GRCm39) |
Y20C |
possibly damaging |
Het |
| Or8g50 |
A |
G |
9: 39,648,344 (GRCm39) |
T78A |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk4 |
C |
T |
10: 80,160,845 (GRCm39) |
R327Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,301,488 (GRCm39) |
F687L |
possibly damaging |
Het |
| Rb1 |
A |
G |
14: 73,435,966 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
C |
A |
6: 3,963,926 (GRCm39) |
V51L |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,924,925 (GRCm39) |
D1143G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,586 (GRCm39) |
M25473T |
probably benign |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,022 (GRCm39) |
I79V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,257 (GRCm39) |
F491Y |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
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 |
|
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'- GCAAGTCACCACATAATAGTTGC -3'
(R):5'- AGCCCAGGAGAAGTCTATAGAC -3'
Sequencing Primer
(F):5'- CAGTTTTGTTGCTGTTTAAAAACAC -3'
(R):5'- CCAGGAGAAGTCTATAGACCCTGAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation