Incidental Mutation 'R0041:Mapk4'
ID 64716
Institutional Source Beutler Lab
Gene Symbol Mapk4
Ensembl Gene ENSMUSG00000024558
Gene Name mitogen-activated protein kinase 4
Synonyms p63Mapk, A330097D03Rik, Erk3-related
MMRRC Submission 038335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0041 (G1)
Quality Score 112
Status Validated
Chromosome 18
Chromosomal Location 74061557-74198430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74068109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 274 (L274Q)
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: L274Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089462
Gene: ENSMUSG00000024558
AA Change: L274Q

DomainStartEndE-ValueType
S_TKc 20 312 3.81e-79 SMART
low complexity region 462 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159162
SMART Domains Protein: ENSMUSP00000123922
Gene: ENSMUSG00000024558

DomainStartEndE-ValueType
Pfam:Pkinase 20 232 2.3e-58 PFAM
Pfam:Pkinase_Tyr 22 232 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162863
SMART Domains Protein: ENSMUSP00000124408
Gene: ENSMUSG00000024558

DomainStartEndE-ValueType
Pfam:Pkinase 20 192 1.7e-41 PFAM
Pfam:Pkinase_Tyr 22 189 5.9e-25 PFAM
Meta Mutation Damage Score 0.3646 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (58/60)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,873,986 (GRCm39) R412G probably damaging Het
Adamts3 T A 5: 89,832,326 (GRCm39) N927Y probably benign Het
Adgra3 A G 5: 50,117,901 (GRCm39) Y1216H probably benign Het
Agpat3 C A 10: 78,123,881 (GRCm39) probably benign Het
AI182371 T A 2: 34,975,733 (GRCm39) Q277L possibly damaging Het
Arhgef15 A T 11: 68,845,342 (GRCm39) L170Q possibly damaging Het
Avpi1 C A 19: 42,112,223 (GRCm39) E112* probably null Het
Braf C T 6: 39,617,413 (GRCm39) A534T probably damaging Het
Bspry G C 4: 62,404,791 (GRCm39) A196P probably damaging Het
Cacna1c T A 6: 118,570,988 (GRCm39) L2095F probably damaging Het
Cdhr2 A T 13: 54,874,651 (GRCm39) S908C probably damaging Het
Cntnap5c C A 17: 58,183,464 (GRCm39) Q57K probably benign Het
Dtna C T 18: 23,779,932 (GRCm39) probably benign Het
Dynap A G 18: 70,375,105 (GRCm39) S37P possibly damaging Het
Efna5 A T 17: 62,914,467 (GRCm39) probably benign Het
Fancm T A 12: 65,153,217 (GRCm39) C1224* probably null Het
Fbxw16 T A 9: 109,277,232 (GRCm39) S37C probably damaging Het
Galnt4 A G 10: 98,944,374 (GRCm39) Y33C probably benign Het
Kcnk2 G T 1: 189,027,888 (GRCm39) N122K probably benign Het
Krt71 C A 15: 101,647,753 (GRCm39) E222D probably damaging Het
Ltf T A 9: 110,858,636 (GRCm39) D461E possibly damaging Het
Mbd6 A G 10: 127,122,741 (GRCm39) C103R probably damaging Het
Nbeal1 A G 1: 60,321,030 (GRCm39) N2047S probably benign Het
Nefh C T 11: 4,895,184 (GRCm39) S335N possibly damaging Het
Obscn G T 11: 58,934,803 (GRCm39) H4715N probably damaging Het
Olfml1 A T 7: 107,189,393 (GRCm39) I153L possibly damaging Het
Or6d13 G A 6: 116,518,295 (GRCm39) V294I possibly damaging Het
Or8g34 T A 9: 39,372,772 (GRCm39) F12Y probably benign Het
Pck1 A G 2: 172,997,003 (GRCm39) E215G probably benign Het
Peg12 T A 7: 62,113,308 (GRCm39) E263V unknown Het
Phkg1 T A 5: 129,903,103 (GRCm39) T15S probably benign Het
Plekhg1 T A 10: 3,914,076 (GRCm39) L1120* probably null Het
Prss59 A T 6: 40,903,042 (GRCm39) L110* probably null Het
Rlf T A 4: 121,007,126 (GRCm39) H618L probably damaging Het
Rnf112 T A 11: 61,343,181 (GRCm39) R165W probably damaging Het
Rnf213 A G 11: 119,293,401 (GRCm39) T51A probably benign Het
Rnf220 A G 4: 117,130,481 (GRCm39) L293P probably damaging Het
Rock1 T C 18: 10,140,240 (GRCm39) D117G probably damaging Het
Rp1 A G 1: 4,414,851 (GRCm39) V2087A probably benign Het
Rpl7a A G 2: 26,801,563 (GRCm39) probably null Het
Serpinb6d A G 13: 33,851,615 (GRCm39) D124G probably damaging Het
Skor1 T G 9: 63,053,133 (GRCm39) T279P probably damaging Het
Son A T 16: 91,456,221 (GRCm39) E1656V probably damaging Het
Swap70 A G 7: 109,878,562 (GRCm39) K511E probably benign Het
Treh T C 9: 44,594,910 (GRCm39) V262A probably benign Het
Trpm4 A G 7: 44,954,370 (GRCm39) probably null Het
Ugt8a T C 3: 125,708,739 (GRCm39) I124V probably benign Het
Wdr53 T C 16: 32,075,473 (GRCm39) V226A probably damaging Het
Wdr64 G A 1: 175,554,037 (GRCm39) W189* probably null Het
Other mutations in Mapk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Mapk4 APN 18 74,067,068 (GRCm39) splice site probably null
IGL02621:Mapk4 APN 18 74,103,346 (GRCm39) missense probably damaging 1.00
IGL03068:Mapk4 APN 18 74,103,415 (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
Predicted Primers PCR Primer
(F):5'- TTGTAGCCAGGAGAAACACCCATTG -3'
(R):5'- GCGTTCCCATATACAACGGTCCAG -3'

Sequencing Primer
(F):5'- ACCCATTGCCAGGGGTTG -3'
(R):5'- TATACAACGGTCCAGGGAAAC -3'
Posted On 2013-08-06