Incidental Mutation 'R4181:Mapk8'
| ID |
319748 |
| 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 |
041017-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
R4181 (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 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
92% (48/52) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,854,714 (GRCm39) |
K284R |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,843,707 (GRCm39) |
T185A |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,412 (GRCm39) |
D1066N |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Cmpk2 |
T |
C |
12: 26,527,046 (GRCm39) |
V345A |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,486 (GRCm39) |
|
probably null |
Het |
| Cyp7a1 |
C |
T |
4: 6,271,205 (GRCm39) |
G317E |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Drc1 |
T |
C |
5: 30,513,057 (GRCm39) |
V377A |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,404 (GRCm39) |
N326D |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,142,197 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Gtpbp3 |
C |
T |
8: 71,944,111 (GRCm39) |
T285I |
probably damaging |
Het |
| Hnrnpul1 |
T |
C |
7: 25,426,237 (GRCm39) |
D538G |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,991 (GRCm39) |
S582N |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,535,437 (GRCm39) |
V107A |
possibly damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,806,601 (GRCm39) |
L270Q |
possibly damaging |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lpcat3 |
C |
T |
6: 124,680,187 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
G |
A |
2: 40,501,446 (GRCm39) |
T219I |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or7g30 |
C |
T |
9: 19,353,031 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,581 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,593,958 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rorc |
G |
A |
3: 94,294,500 (GRCm39) |
C33Y |
probably damaging |
Het |
| Ssc4d |
T |
C |
5: 135,990,778 (GRCm39) |
E470G |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,928,428 (GRCm39) |
V2614G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,959 (GRCm39) |
E117G |
probably damaging |
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 |
|
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'- TGCAAGTCACCACATAATAGTTGC -3'
(R):5'- CCTGAAGGTAGGTAGCACAG -3'
Sequencing Primer
(F):5'- CAGTTTTGTTGCTGTTTAAAAACAC -3'
(R):5'- TAGGTAGCACAGGCCAGGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation