Incidental Mutation 'R2038:Mapk8'
| ID |
225349 |
| 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 |
040045-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.703)
|
| Stock # |
R2038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33099855-33169115 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 33110893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 245
(C245*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022504]
[ENSMUST00000111942]
[ENSMUST00000111943]
[ENSMUST00000111944]
[ENSMUST00000111945]
[ENSMUST00000226798]
|
| AlphaFold |
Q91Y86 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022504
AA Change: C245*
|
| SMART Domains |
Protein: ENSMUSP00000022504
Gene: ENSMUSG00000021936
AA Change: C245*
| 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 null
Transcript: ENSMUST00000111943
AA Change: C245*
|
| SMART Domains |
Protein: ENSMUSP00000107574
Gene: ENSMUSG00000021936
AA Change: C245*
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
1.3e-86 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111944
AA Change: C245*
|
| SMART Domains |
Protein: ENSMUSP00000107575
Gene: ENSMUSG00000021936
AA Change: C245*
| 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 null
Transcript: ENSMUST00000111945
AA Change: C245*
|
| SMART Domains |
Protein: ENSMUSP00000107576
Gene: ENSMUSG00000021936
AA Change: C245*
| 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 |
probably benign
Transcript: ENSMUST00000226798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227306
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
| Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
| Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
| Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
| H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
| Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
| Lman1 |
T |
C |
18: 66,131,681 (GRCm39) |
T101A |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,265,016 (GRCm39) |
V53A |
probably benign |
Het |
| Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
| Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
| Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,539 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,025 (GRCm39) |
S316P |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
| Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
| Slc33a1 |
A |
G |
3: 63,855,577 (GRCm39) |
L356P |
probably damaging |
Het |
| Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
| Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
| Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,637 (GRCm39) |
G419R |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,411,097 (GRCm39) |
F677L |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
probably null |
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 |
|
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 |
|
|
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'- TGAGTTAGACCCTTTAAGAATATGACT -3'
(R):5'- AGGTGGCTTTGAGGTACAAAA -3'
Sequencing Primer
(F):5'- CACATCGGGGAACAGTTT -3'
(R):5'- AATGGCTACTTTCTTCAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation