Incidental Mutation 'R1084:Mapk8'
ID 84969
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 039170-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R1084 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 33099855-33169115 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 33110760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 290 (K290*)
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: K290*
SMART Domains Protein: ENSMUSP00000022504
Gene: ENSMUSG00000021936
AA Change: K290*

DomainStartEndE-ValueType
S_TKc 26 321 1.3e-86 SMART
low complexity region 390 403 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111942
AA Change: K214*
SMART Domains Protein: ENSMUSP00000107573
Gene: ENSMUSG00000021936
AA Change: K214*

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 null
Transcript: ENSMUST00000111943
AA Change: K290*
SMART Domains Protein: ENSMUSP00000107574
Gene: ENSMUSG00000021936
AA Change: K290*

DomainStartEndE-ValueType
S_TKc 26 321 1.3e-86 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111944
AA Change: K290*
SMART Domains Protein: ENSMUSP00000107575
Gene: ENSMUSG00000021936
AA Change: K290*

DomainStartEndE-ValueType
S_TKc 26 321 1.06e-86 SMART
low complexity region 390 403 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111945
AA Change: K290*
SMART Domains Protein: ENSMUSP00000107576
Gene: ENSMUSG00000021936
AA Change: K290*

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 100% (39/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,790,004 (GRCm39) probably benign Het
Abcg4 C T 9: 44,188,766 (GRCm39) V476M probably benign Het
Arhgap9 A G 10: 127,163,797 (GRCm39) S478G probably damaging Het
Blvra A G 2: 126,922,573 (GRCm39) T3A probably benign Het
Crygb C T 1: 65,119,654 (GRCm39) D109N possibly damaging Het
Cyp3a59 A T 5: 146,033,484 (GRCm39) T207S probably benign Het
Cyp4b1 A G 4: 115,497,509 (GRCm39) V163A probably benign Het
Dmxl2 A T 9: 54,323,717 (GRCm39) S1222R probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 G A 15: 28,343,598 (GRCm39) V2333I probably benign Het
Eral1 C T 11: 77,965,324 (GRCm39) V364M probably damaging Het
Fat4 T C 3: 39,033,974 (GRCm39) V2542A possibly damaging Het
Glcci1 C T 6: 8,573,221 (GRCm39) Q50* probably null Het
Heg1 A G 16: 33,527,367 (GRCm39) D109G probably benign Het
Lama1 C A 17: 68,111,464 (GRCm39) S2238R probably benign Het
Ltbp1 G A 17: 75,666,420 (GRCm39) W1053* probably null Het
Ly6f T C 15: 75,140,622 (GRCm39) L15P probably damaging Het
Mbd1 A G 18: 74,402,603 (GRCm39) Y35C probably damaging Het
Mcf2l T C 8: 13,052,645 (GRCm39) V503A possibly damaging Het
Morc2a A G 11: 3,600,454 (GRCm39) probably benign Het
Ms4a8a T A 19: 11,053,726 (GRCm39) I127F probably damaging Het
Myo1d T C 11: 80,575,221 (GRCm39) Y165C probably damaging Het
Ocel1 G T 8: 71,824,632 (GRCm39) probably null Het
Plekhh2 C T 17: 84,878,554 (GRCm39) T603M probably damaging Het
Rab6b C T 9: 103,039,834 (GRCm39) T128M probably damaging Het
Scel G T 14: 103,802,279 (GRCm39) probably null Het
Sec23a A T 12: 59,031,921 (GRCm39) N436K probably damaging Het
Sec24a A G 11: 51,604,408 (GRCm39) L736P probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sulf1 AAGGGA AAGGGAGGGA 1: 12,906,388 (GRCm39) probably null Het
Tex15 A G 8: 34,067,032 (GRCm39) E2154G probably benign Het
Tnrc18 A G 5: 142,750,522 (GRCm39) probably null Het
Tpr A G 1: 150,317,912 (GRCm39) Q2140R probably benign Het
Zfp142 T C 1: 74,610,985 (GRCm39) R834G probably benign Het
Zfp276 G A 8: 123,981,462 (GRCm39) R3Q probably damaging Het
Zscan4d A T 7: 10,898,932 (GRCm39) L115Q probably damaging Het
Other mutations in Mapk8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTAAAGTAGGGTCgaggctgggga -3'
(R):5'- TGAACAGCTCGGAACACCTTGTC -3'

Sequencing Primer
(F):5'- tcttcctgaccctgctcc -3'
(R):5'- CAGGCCTAAATACGCTGGAT -3'
Posted On 2013-11-18