Incidental Mutation 'R8834:Mapk9'
| ID |
674040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk9
|
| Ensembl Gene |
ENSMUSG00000020366 |
| Gene Name |
mitogen-activated protein kinase 9 |
| Synonyms |
c-Jun N-terminal kinase, Prkm9, JNK2, JNK/SAPK alpha |
| MMRRC Submission |
068662-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.342)
|
| Stock # |
R8834 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49737578-49777248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49774010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 389
(S389L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020634]
[ENSMUST00000043321]
[ENSMUST00000102778]
[ENSMUST00000109178]
[ENSMUST00000109179]
[ENSMUST00000164643]
[ENSMUST00000178543]
|
| AlphaFold |
Q9WTU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020634
AA Change: S389L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020634
Gene: ENSMUSG00000020366
AA Change: S389L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
4.01e-87 |
SMART |
|
low complexity region
|
387 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043321
AA Change: S389L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042744
Gene: ENSMUSG00000020366
AA Change: S389L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
7.6e-88 |
SMART |
|
low complexity region
|
387 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102778
|
| SMART Domains |
Protein: ENSMUSP00000099839
Gene: ENSMUSG00000020366
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
7.6e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109178
|
| SMART Domains |
Protein: ENSMUSP00000104807
Gene: ENSMUSG00000020366
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
4.01e-87 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109179
|
| SMART Domains |
Protein: ENSMUSP00000104808
Gene: ENSMUSG00000020366
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
7.6e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164643
|
| SMART Domains |
Protein: ENSMUSP00000132864
Gene: ENSMUSG00000020366
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
4.01e-87 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178543
AA Change: S389L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136977
Gene: ENSMUSG00000020366
AA Change: S389L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
321 |
7.6e-88 |
SMART |
|
low complexity region
|
387 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| 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 targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygotes for a null allele show resistance to TNF-induced liver injury, impaired TH1 cell differentiation, and enhanced epidermal differentiation and proliferation. Homozygotes for a reporter allele show impaired T-cell activation and apoptosis, resistance to I-R cardiac injury, and reduced LTP. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,877,372 (GRCm39) |
T1007A |
probably benign |
Het |
| Adcy6 |
A |
G |
15: 98,498,922 (GRCm39) |
L293P |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,471,735 (GRCm39) |
V260E |
possibly damaging |
Het |
| Capn3 |
T |
A |
2: 120,294,534 (GRCm39) |
F61I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,850,964 (GRCm39) |
S578G |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,608,049 (GRCm39) |
Y714C |
probably damaging |
Het |
| Dnah14 |
T |
G |
1: 181,444,315 (GRCm39) |
F542V |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,140,834 (GRCm39) |
V1350A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,306 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,942,493 (GRCm39) |
G1293E |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,395,581 (GRCm39) |
V985A |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,922,610 (GRCm39) |
D397G |
probably damaging |
Het |
| Gan |
C |
G |
8: 117,885,031 (GRCm39) |
P53R |
|
Het |
| Gcc2 |
T |
C |
10: 58,121,867 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,689,314 (GRCm39) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,563,820 (GRCm39) |
F2L |
|
Het |
| Heatr5a |
A |
G |
12: 51,956,739 (GRCm39) |
|
probably null |
Het |
| Kifc2 |
T |
A |
15: 76,551,250 (GRCm39) |
H681Q |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,236 (GRCm39) |
S161C |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,562 (GRCm38) |
C15R |
possibly damaging |
Het |
| Lrrc66 |
C |
G |
5: 73,765,928 (GRCm39) |
A372P |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,161,433 (GRCm39) |
R884H |
probably benign |
Het |
| Map2k6 |
T |
A |
11: 110,383,419 (GRCm39) |
C109* |
probably null |
Het |
| Mier2 |
C |
T |
10: 79,386,293 (GRCm39) |
G57D |
unknown |
Het |
| Mis18bp1 |
A |
T |
12: 65,208,419 (GRCm39) |
M98K |
probably benign |
Het |
| Mrtfa |
A |
G |
15: 80,904,511 (GRCm39) |
L196P |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,164 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pcsk7 |
A |
G |
9: 45,830,589 (GRCm39) |
S456G |
possibly damaging |
Het |
| Phf12 |
T |
A |
11: 77,897,608 (GRCm39) |
C102S |
probably damaging |
Het |
| Ppm1k |
A |
G |
6: 57,502,023 (GRCm39) |
C47R |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 127,990,809 (GRCm39) |
I93T |
probably damaging |
Het |
| Ror2 |
CCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTC |
13: 53,264,338 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,416,431 (GRCm39) |
F579Y |
possibly damaging |
Het |
| Selplg |
G |
A |
5: 113,957,691 (GRCm39) |
S205L |
possibly damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,955,999 (GRCm39) |
V109A |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,807,845 (GRCm39) |
S336P |
|
Het |
| Tlr2 |
C |
A |
3: 83,746,020 (GRCm39) |
R21L |
probably benign |
Het |
| Trpa1 |
C |
T |
1: 14,963,528 (GRCm39) |
V565I |
possibly damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,331,058 (GRCm39) |
S390T |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,785 (GRCm39) |
V1514A |
probably benign |
Het |
| Uchl5 |
A |
T |
1: 143,661,968 (GRCm39) |
K81* |
probably null |
Het |
| Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
| Usp12 |
T |
A |
5: 146,691,327 (GRCm39) |
E142D |
probably benign |
Het |
| V1ra8 |
A |
T |
6: 90,180,622 (GRCm39) |
D275V |
unknown |
Het |
| Zfp804a |
A |
G |
2: 82,089,441 (GRCm39) |
H1090R |
possibly damaging |
Het |
|
| Other mutations in Mapk9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03085:Mapk9
|
APN |
11 |
49,757,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03399:Mapk9
|
APN |
11 |
49,774,126 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Infirm
|
UTSW |
11 |
49,754,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Mapk9
|
UTSW |
11 |
49,757,866 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0610:Mapk9
|
UTSW |
11 |
49,754,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0676:Mapk9
|
UTSW |
11 |
49,773,983 (GRCm39) |
makesense |
probably null |
|
|
R0681:Mapk9
|
UTSW |
11 |
49,760,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0736:Mapk9
|
UTSW |
11 |
49,774,081 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1186:Mapk9
|
UTSW |
11 |
49,769,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1964:Mapk9
|
UTSW |
11 |
49,745,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R2424:Mapk9
|
UTSW |
11 |
49,754,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Mapk9
|
UTSW |
11 |
49,745,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6191:Mapk9
|
UTSW |
11 |
49,754,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Mapk9
|
UTSW |
11 |
49,757,874 (GRCm39) |
splice site |
probably null |
|
|
R7484:Mapk9
|
UTSW |
11 |
49,763,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7951:Mapk9
|
UTSW |
11 |
49,754,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Mapk9
|
UTSW |
11 |
49,760,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Mapk9
|
UTSW |
11 |
49,745,095 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9176:Mapk9
|
UTSW |
11 |
49,763,565 (GRCm39) |
nonsense |
probably null |
|
|
R9573:Mapk9
|
UTSW |
11 |
49,769,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF010:Mapk9
|
UTSW |
11 |
49,745,083 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTATAGTTGAGCAGTCTTGGTTC -3'
(R):5'- AGGGCAAGGCATCGTGTTTC -3'
Sequencing Primer
(F):5'- CAGTCTTGGTTCTGTTGATCATTAG -3'
(R):5'- GCATCGTGTTTCTTACATGCAGAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation