Incidental Mutation 'IGL01478:Mapk8'
ID88514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk8
Ensembl Gene ENSMUSG00000021936
Gene Namemitogen-activated protein kinase 8
SynonymsJNK1, c-Jun N-terminal kinase, Prkm8
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.818) question?
Stock #IGL01478
Quality Score
Status
Chromosome14
Chromosomal Location33377898-33447158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33383900 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 371 (V371A)
Ref Sequence ENSEMBL: ENSMUSP00000107576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022504] [ENSMUST00000111942] [ENSMUST00000111943] [ENSMUST00000111944] [ENSMUST00000111945]
Predicted Effect probably benign
Transcript: ENSMUST00000022504
AA Change: V371A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022504
Gene: ENSMUSG00000021936
AA Change: V371A

DomainStartEndE-ValueType
S_TKc 26 321 1.3e-86 SMART
low complexity region 390 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111942
AA Change: V295A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107573
Gene: ENSMUSG00000021936
AA Change: V295A

DomainStartEndE-ValueType
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
AA Change: V371A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107574
Gene: ENSMUSG00000021936
AA Change: V371A

DomainStartEndE-ValueType
S_TKc 26 321 1.3e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111944
AA Change: V371A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107575
Gene: ENSMUSG00000021936
AA Change: V371A

DomainStartEndE-ValueType
S_TKc 26 321 1.06e-86 SMART
low complexity region 390 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111945
AA Change: V371A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107576
Gene: ENSMUSG00000021936
AA Change: V371A

DomainStartEndE-ValueType
S_TKc 26 321 1.06e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227306
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,934,609 T613A probably benign Het
Cdh16 G T 8: 104,614,488 probably benign Het
Epn2 A G 11: 61,523,086 S419P probably benign Het
Eral1 A T 11: 78,075,732 V234D probably damaging Het
Fhad1 T C 4: 141,951,638 K576E possibly damaging Het
Frmd4b T A 6: 97,328,293 D170V probably damaging Het
Gm4353 A G 7: 116,083,740 V202A possibly damaging Het
Ighmbp2 A G 19: 3,274,531 I245T probably benign Het
Igsf23 G A 7: 19,938,236 probably benign Het
Krt1 A G 15: 101,846,286 probably benign Het
Mtrf1 T G 14: 79,402,920 probably benign Het
Myzap A G 9: 71,515,067 probably null Het
Nsrp1 C T 11: 77,050,652 V73I probably benign Het
Olfr1089 A T 2: 86,733,329 Y94* probably null Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr670 A G 7: 104,960,348 I128T probably damaging Het
Pex6 C T 17: 46,725,304 R976C probably benign Het
Ranbp9 G A 13: 43,414,084 T546I probably benign Het
Rfx5 T C 3: 94,958,440 V350A possibly damaging Het
Rnf19b A G 4: 129,058,830 E187G probably damaging Het
Sbf1 A G 15: 89,299,743 V1217A probably damaging Het
Sfmbt1 T A 14: 30,811,521 D618E probably damaging Het
Sipa1l1 A G 12: 82,446,898 E1697G probably benign Het
Syk A G 13: 52,624,748 Y290C probably benign Het
Trim69 T C 2: 122,178,443 L328P probably damaging Het
Unc5c T A 3: 141,828,451 I911N probably damaging Het
Wdr5 T C 2: 27,533,832 V294A probably damaging Het
Other mutations in Mapk8
AlleleSourceChrCoordTypePredicted EffectPPH Score
daughter UTSW 14 33390729 missense probably damaging 1.00
son UTSW 14 33402658 missense probably damaging 1.00
R0255:Mapk8 UTSW 14 33387307 splice site probably benign
R0401:Mapk8 UTSW 14 33382208 missense probably benign 0.37
R0862:Mapk8 UTSW 14 33392992 missense probably damaging 0.98
R0864:Mapk8 UTSW 14 33392992 missense probably damaging 0.98
R1084:Mapk8 UTSW 14 33388803 nonsense probably null
R1637:Mapk8 UTSW 14 33410962 missense probably benign 0.00
R2038:Mapk8 UTSW 14 33388936 nonsense probably null
R3959:Mapk8 UTSW 14 33382253 missense probably null 0.21
R4087:Mapk8 UTSW 14 33390248 missense probably benign 0.00
R4181:Mapk8 UTSW 14 33382220 missense probably damaging 1.00
R4183:Mapk8 UTSW 14 33382220 missense probably damaging 1.00
R4184:Mapk8 UTSW 14 33382220 missense probably damaging 1.00
R5366:Mapk8 UTSW 14 33390729 missense probably damaging 1.00
R6076:Mapk8 UTSW 14 33390293 missense probably damaging 1.00
R6991:Mapk8 UTSW 14 33410884 missense possibly damaging 0.82
R7345:Mapk8 UTSW 14 33408111 missense probably damaging 0.99
R7814:Mapk8 UTSW 14 33410877 nonsense probably null
R8194:Mapk8 UTSW 14 33382284 missense probably benign
R8550:Mapk8 UTSW 14 33402658 missense probably damaging 1.00
Z1176:Mapk8 UTSW 14 33410886 missense probably damaging 1.00
Posted On2013-11-18