Incidental Mutation 'IGL01791:Mapk10'
ID155204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk10
Ensembl Gene ENSMUSG00000046709
Gene Namemitogen-activated protein kinase 10
Synonymsp493F12, JNK3, Serk2, C230008H04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01791
Quality Score
Status
Chromosome5
Chromosomal Location102907948-103211334 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102996648 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 101 (N101S)
Ref Sequence ENSEMBL: ENSMUSP00000127193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086854] [ENSMUST00000112846] [ENSMUST00000112847] [ENSMUST00000112848] [ENSMUST00000128869] [ENSMUST00000133069] [ENSMUST00000141573] [ENSMUST00000170792]
Predicted Effect probably damaging
Transcript: ENSMUST00000086854
AA Change: N101S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084065
Gene: ENSMUSG00000046709
AA Change: N101S

DomainStartEndE-ValueType
S_TKc 64 359 5.76e-88 SMART
low complexity region 423 432 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112846
AA Change: N101S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108467
Gene: ENSMUSG00000046709
AA Change: N101S

DomainStartEndE-ValueType
S_TKc 64 359 4.37e-88 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112847
AA Change: N101S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108468
Gene: ENSMUSG00000046709
AA Change: N101S

DomainStartEndE-ValueType
S_TKc 64 359 4.37e-88 SMART
low complexity region 423 432 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112848
AA Change: N131S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108469
Gene: ENSMUSG00000046709
AA Change: N131S

DomainStartEndE-ValueType
S_TKc 94 389 4.37e-88 SMART
low complexity region 453 462 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128869
AA Change: N27S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143448
Gene: ENSMUSG00000046709
AA Change: N27S

DomainStartEndE-ValueType
S_TKc 4 178 7.4e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133069
AA Change: N101S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143609
Gene: ENSMUSG00000046709
AA Change: N101S

DomainStartEndE-ValueType
S_TKc 64 252 1.4e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000141573
AA Change: N101S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142798
Gene: ENSMUSG00000046709
AA Change: N101S

DomainStartEndE-ValueType
Pfam:Pkinase 64 125 1.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170792
AA Change: N101S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127193
Gene: ENSMUSG00000046709
AA Change: N101S

DomainStartEndE-ValueType
S_TKc 64 359 4.37e-88 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points 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 specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. They are resistant to kainic acid induced seizures and show increased resistance to MPTP induced Parkinson's disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap32 A G 9: 32,247,190 I174V probably damaging Het
Asb15 T A 6: 24,567,212 C511S probably damaging Het
Atr C T 9: 95,921,781 A1896V probably benign Het
B3gnt4 C T 5: 123,511,099 R176C probably damaging Het
Brf1 T C 12: 112,962,475 D557G probably benign Het
Catsperg2 T A 7: 29,704,665 probably null Het
Ccdc144b T C 3: 36,035,267 probably benign Het
Cdip1 A G 16: 4,768,865 I122T probably damaging Het
Ctrl C T 8: 105,932,567 E147K probably benign Het
Dennd2c T C 3: 103,166,425 V829A probably benign Het
Dync1h1 T A 12: 110,658,930 L3874Q probably damaging Het
Gm10521 T C 1: 171,896,397 S92P unknown Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hddc2 A G 10: 31,326,026 Y123C probably damaging Het
Hyal4 T C 6: 24,763,895 probably benign Het
Ighv16-1 T C 12: 114,068,969 N71S probably benign Het
Ing2 A T 8: 47,669,035 S159R probably benign Het
Itga1 A T 13: 114,987,661 N698K probably benign Het
Lemd2 A T 17: 27,190,728 I483N probably damaging Het
Lyst T C 13: 13,635,302 L519P probably damaging Het
Nfatc4 A T 14: 55,832,238 E164V probably null Het
Nfkb2 T G 19: 46,309,839 probably benign Het
Nox3 A G 17: 3,682,943 V231A possibly damaging Het
Nup160 G A 2: 90,703,853 G674D probably damaging Het
Olfr364-ps1 A T 2: 37,146,536 D108V probably damaging Het
Olfr657 C T 7: 104,636,475 T267I possibly damaging Het
Otoa T G 7: 121,155,849 V998G probably benign Het
Pcnx3 A T 19: 5,673,267 M1300K probably benign Het
Pde4b A G 4: 102,590,930 probably benign Het
Rfc1 T A 5: 65,263,145 K1104I probably benign Het
Serpina1f G T 12: 103,693,502 Q174K probably damaging Het
Serping1 T C 2: 84,773,377 N107D possibly damaging Het
Surf6 A G 2: 26,899,747 S94P probably benign Het
Tctex1d4 T A 4: 117,128,597 S206T probably damaging Het
Tigd4 T A 3: 84,594,745 I323N probably damaging Het
Vmn2r28 T C 7: 5,488,162 D362G probably benign Het
Wdfy3 A G 5: 101,937,412 S739P probably damaging Het
Other mutations in Mapk10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Mapk10 APN 5 102926152 splice site probably benign
IGL01885:Mapk10 APN 5 102996589 missense probably damaging 1.00
IGL02192:Mapk10 APN 5 102989647 missense probably damaging 0.97
IGL02260:Mapk10 APN 5 103038668 missense probably benign 0.09
IGL02409:Mapk10 APN 5 102928230 missense possibly damaging 0.50
IGL03148:Mapk10 APN 5 102926105 missense probably damaging 1.00
R0904:Mapk10 UTSW 5 102987280 splice site probably benign
R1067:Mapk10 UTSW 5 102991857 splice site probably benign
R1592:Mapk10 UTSW 5 103038621 missense possibly damaging 0.89
R1812:Mapk10 UTSW 5 102913262 missense probably damaging 1.00
R2364:Mapk10 UTSW 5 103038641 missense possibly damaging 0.81
R2866:Mapk10 UTSW 5 103038682 missense probably benign 0.25
R2867:Mapk10 UTSW 5 103038682 missense probably benign 0.25
R2867:Mapk10 UTSW 5 103038682 missense probably benign 0.25
R4622:Mapk10 UTSW 5 102989724 missense probably damaging 1.00
R4860:Mapk10 UTSW 5 102990619 missense probably damaging 1.00
R4860:Mapk10 UTSW 5 102990619 missense probably damaging 1.00
R4866:Mapk10 UTSW 5 102963525 missense probably damaging 1.00
R5901:Mapk10 UTSW 5 102913292 missense probably damaging 1.00
R5986:Mapk10 UTSW 5 103038580 missense probably benign 0.33
R6000:Mapk10 UTSW 5 102966475 missense probably damaging 1.00
R6000:Mapk10 UTSW 5 102966476 missense probably damaging 1.00
R7375:Mapk10 UTSW 5 102976390 missense probably null 0.26
Posted On2014-02-04