Incidental Mutation 'IGL03399:Mapk9'
ID421372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk9
Ensembl Gene ENSMUSG00000020366
Gene Namemitogen-activated protein kinase 9
SynonymsJNK2, JNK/SAPK alpha, Prkm9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.227) question?
Stock #IGL03399
Quality Score
Status
Chromosome11
Chromosomal Location49846751-49886421 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 49883299 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020634] [ENSMUST00000043321] [ENSMUST00000102778] [ENSMUST00000109178] [ENSMUST00000109179] [ENSMUST00000164643] [ENSMUST00000178543]
Predicted Effect probably benign
Transcript: ENSMUST00000020634
SMART Domains Protein: ENSMUSP00000020634
Gene: ENSMUSG00000020366

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000043321
SMART Domains Protein: ENSMUSP00000042744
Gene: ENSMUSG00000020366

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
S_TKc 26 321 7.6e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109178
SMART Domains Protein: ENSMUSP00000104807
Gene: ENSMUSG00000020366

DomainStartEndE-ValueType
S_TKc 26 321 4.01e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109179
SMART Domains Protein: ENSMUSP00000104808
Gene: ENSMUSG00000020366

DomainStartEndE-ValueType
S_TKc 26 321 7.6e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164643
SMART Domains Protein: ENSMUSP00000132864
Gene: ENSMUSG00000020366

DomainStartEndE-ValueType
S_TKc 26 321 4.01e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178543
SMART Domains Protein: ENSMUSP00000136977
Gene: ENSMUSG00000020366

DomainStartEndE-ValueType
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
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,247,956 E26K probably benign Het
Acss1 C T 2: 150,637,878 G303D probably damaging Het
Adam6b A T 12: 113,491,108 Y515F probably damaging Het
Birc2 A T 9: 7,821,087 L412Q probably damaging Het
Birc6 T C 17: 74,594,373 I1144T probably benign Het
Dip2b A T 15: 100,175,327 N770I possibly damaging Het
Dmxl2 T C 9: 54,446,672 N671D probably damaging Het
Dpyd A G 3: 119,314,777 D823G probably damaging Het
Eif5 A G 12: 111,544,590 D367G probably damaging Het
Exog T G 9: 119,446,951 S56A possibly damaging Het
Hap1 C A 11: 100,354,267 M39I possibly damaging Het
Hsd17b6 A T 10: 127,993,756 H192Q probably benign Het
Insrr T A 3: 87,809,331 L622Q probably null Het
Kars G T 8: 112,008,294 A20E probably benign Het
Kyat3 A G 3: 142,726,010 D197G probably damaging Het
Naip1 A T 13: 100,408,918 D1367E probably damaging Het
Oaz1 G A 10: 80,828,342 S84N probably benign Het
Ofcc1 T C 13: 40,142,838 R507G possibly damaging Het
Olfr345 T G 2: 36,640,882 V281G possibly damaging Het
Olfr478 A G 7: 108,031,582 F254L probably benign Het
Olfr938 A T 9: 39,078,237 C169* probably null Het
Pclo T A 5: 14,766,731 D4540E unknown Het
Ppp6r1 A G 7: 4,643,252 V150A probably damaging Het
Prdm2 T C 4: 143,135,088 D544G probably benign Het
Rab27b A G 18: 69,986,996 I128T possibly damaging Het
Slc25a1 G T 16: 17,925,820 T195K probably damaging Het
Tex10 T C 4: 48,459,915 N479D probably benign Het
Thsd7b G T 1: 129,628,885 W326L probably damaging Het
Tril T C 6: 53,820,057 D60G probably benign Het
Ttn C T 2: 76,785,281 R14984H probably damaging Het
Uba2 G A 7: 34,144,514 T12I probably damaging Het
Vmn2r107 T C 17: 20,357,958 probably benign Het
Vti1a A G 19: 55,499,271 K183R probably benign Het
Zkscan16 T C 4: 58,956,915 V399A probably benign Het
Other mutations in Mapk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Mapk9 APN 11 49867038 missense probably damaging 1.00
Infirm UTSW 11 49863556 missense probably damaging 1.00
R0003:Mapk9 UTSW 11 49867039 missense possibly damaging 0.52
R0610:Mapk9 UTSW 11 49863573 missense probably benign 0.00
R0676:Mapk9 UTSW 11 49883156 makesense probably null
R0681:Mapk9 UTSW 11 49869245 missense probably damaging 1.00
R0736:Mapk9 UTSW 11 49883254 missense possibly damaging 0.58
R1186:Mapk9 UTSW 11 49878269 missense probably damaging 0.99
R1964:Mapk9 UTSW 11 49854333 missense probably null 1.00
R2424:Mapk9 UTSW 11 49863672 missense probably damaging 1.00
R4876:Mapk9 UTSW 11 49854325 missense probably damaging 0.97
R6191:Mapk9 UTSW 11 49863556 missense probably damaging 1.00
R7059:Mapk9 UTSW 11 49867047 splice site probably null
R7484:Mapk9 UTSW 11 49872836 missense probably damaging 0.97
RF010:Mapk9 UTSW 11 49854256 start gained probably benign
Posted On2016-08-02