Incidental Mutation 'IGL02621:Mapk4'
ID 300859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk4
Ensembl Gene ENSMUSG00000024558
Gene Name mitogen-activated protein kinase 4
Synonyms p63Mapk, A330097D03Rik, Erk3-related
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02621
Quality Score
Status
Chromosome 18
Chromosomal Location 74061557-74198430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74103346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 54 (S54R)
Ref Sequence ENSEMBL: ENSMUSP00000089462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091851] [ENSMUST00000159162] [ENSMUST00000162863]
AlphaFold Q6P5G0
Predicted Effect probably damaging
Transcript: ENSMUST00000091851
AA Change: S54R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089462
Gene: ENSMUSG00000024558
AA Change: S54R

DomainStartEndE-ValueType
S_TKc 20 312 3.81e-79 SMART
low complexity region 462 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159162
AA Change: S54R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000123922
Gene: ENSMUSG00000024558
AA Change: S54R

DomainStartEndE-ValueType
Pfam:Pkinase 20 232 2.3e-58 PFAM
Pfam:Pkinase_Tyr 22 232 5.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160601
Predicted Effect probably benign
Transcript: ENSMUST00000162863
AA Change: S54R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124408
Gene: ENSMUSG00000024558
AA Change: S54R

DomainStartEndE-ValueType
Pfam:Pkinase 20 192 1.7e-41 PFAM
Pfam:Pkinase_Tyr 22 189 5.9e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viabel and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,476,688 (GRCm39) probably benign Het
2210408I21Rik T C 13: 77,408,150 (GRCm39) I159T possibly damaging Het
Agpat3 T A 10: 78,120,900 (GRCm39) I93F probably damaging Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atr G A 9: 95,790,453 (GRCm39) A1598T probably benign Het
Bltp1 T A 3: 37,095,633 (GRCm39) probably benign Het
Clk1 T C 1: 58,453,614 (GRCm39) D324G probably damaging Het
Cntnap4 A T 8: 113,537,355 (GRCm39) D742V probably damaging Het
Esrrb A G 12: 86,468,735 (GRCm39) N16S probably benign Het
Grm1 A T 10: 10,564,755 (GRCm39) Y1184* probably null Het
Hint1 G T 11: 54,761,011 (GRCm39) probably benign Het
Itch A T 2: 155,014,504 (GRCm39) probably null Het
Lmod3 T C 6: 97,215,796 (GRCm39) probably benign Het
Map3k4 C A 17: 12,482,900 (GRCm39) A606S probably damaging Het
Megf11 A G 9: 64,601,214 (GRCm39) D807G probably benign Het
Mgat5 A G 1: 127,325,326 (GRCm39) T398A possibly damaging Het
Nme8 T G 13: 19,859,818 (GRCm39) K28N probably damaging Het
Pamr1 A G 2: 102,464,688 (GRCm39) N279S probably benign Het
Pcca A T 14: 122,922,391 (GRCm39) D384V probably damaging Het
Prkag1 A T 15: 98,711,909 (GRCm39) I239N probably damaging Het
Psme4 A G 11: 30,798,131 (GRCm39) T1375A probably benign Het
Ptk2 A C 15: 73,077,994 (GRCm39) L1024R probably damaging Het
Rere G A 4: 150,698,269 (GRCm39) probably benign Het
Scn2a A G 2: 65,579,223 (GRCm39) probably benign Het
Sema5a T A 15: 32,538,802 (GRCm39) probably benign Het
Shoc1 A T 4: 59,062,668 (GRCm39) W863R probably damaging Het
Slc9a1 T A 4: 133,097,879 (GRCm39) W9R probably benign Het
Slco1a5 T A 6: 142,187,741 (GRCm39) M533L probably benign Het
Ttll4 T A 1: 74,726,643 (GRCm39) S720T probably damaging Het
Vmn1r168 A T 7: 23,240,780 (GRCm39) R212S probably damaging Het
Vmn2r114 T C 17: 23,529,494 (GRCm39) I203V probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Mapk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Mapk4 APN 18 74,067,068 (GRCm39) splice site probably null
IGL03068:Mapk4 APN 18 74,103,415 (GRCm39) missense probably damaging 1.00
R0041:Mapk4 UTSW 18 74,068,109 (GRCm39) missense probably damaging 1.00
R0519:Mapk4 UTSW 18 74,103,392 (GRCm39) missense probably damaging 1.00
R0636:Mapk4 UTSW 18 74,063,525 (GRCm39) missense probably benign
R0918:Mapk4 UTSW 18 74,103,408 (GRCm39) missense probably damaging 1.00
R1654:Mapk4 UTSW 18 74,064,010 (GRCm39) missense probably damaging 1.00
R2913:Mapk4 UTSW 18 74,068,236 (GRCm39) missense probably benign 0.34
R2914:Mapk4 UTSW 18 74,068,236 (GRCm39) missense probably benign 0.34
R4089:Mapk4 UTSW 18 74,063,530 (GRCm39) missense probably damaging 1.00
R4414:Mapk4 UTSW 18 74,063,609 (GRCm39) missense possibly damaging 0.76
R4487:Mapk4 UTSW 18 74,064,046 (GRCm39) missense probably damaging 1.00
R4792:Mapk4 UTSW 18 74,070,321 (GRCm39) missense probably damaging 0.98
R5445:Mapk4 UTSW 18 74,064,073 (GRCm39) missense probably benign 0.00
R5597:Mapk4 UTSW 18 74,070,341 (GRCm39) missense probably benign 0.12
R5654:Mapk4 UTSW 18 74,103,365 (GRCm39) missense probably damaging 1.00
R6700:Mapk4 UTSW 18 74,063,882 (GRCm39) missense probably damaging 1.00
R6793:Mapk4 UTSW 18 74,063,539 (GRCm39) missense probably damaging 1.00
R7200:Mapk4 UTSW 18 74,063,990 (GRCm39) missense possibly damaging 0.92
R7335:Mapk4 UTSW 18 74,070,338 (GRCm39) missense possibly damaging 0.75
R8010:Mapk4 UTSW 18 74,063,647 (GRCm39) missense probably benign 0.04
R8269:Mapk4 UTSW 18 74,063,622 (GRCm39) missense probably damaging 0.99
R8736:Mapk4 UTSW 18 74,103,396 (GRCm39) missense probably benign 0.01
Z1176:Mapk4 UTSW 18 74,070,255 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16