Incidental Mutation 'R4674:Mapk14'
ID 348741
Institutional Source Beutler Lab
Gene Symbol Mapk14
Ensembl Gene ENSMUSG00000053436
Gene Name mitogen-activated protein kinase 14
Synonyms p38 MAP Kinase, Mxi2, CSBP2, p38 MAP kinase alpha, p38alpha, p38-alpha, p38, Csbp1, Crk1, p38a, p38 MAPK, p38 alpha, p38MAPK
MMRRC Submission 041929-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4674 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 28910303-28967380 bp(+) (GRCm39)
Type of Mutation splice site (3858 bp from exon)
DNA Base Change (assembly) A to G at 28963996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004990] [ENSMUST00000062694] [ENSMUST00000114752] [ENSMUST00000114754] [ENSMUST00000114758]
AlphaFold P47811
Predicted Effect probably damaging
Transcript: ENSMUST00000004990
AA Change: D294G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000004990
Gene: ENSMUSG00000053436
AA Change: D294G

DomainStartEndE-ValueType
S_TKc 24 308 3.46e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000062694
AA Change: D294G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061958
Gene: ENSMUSG00000053436
AA Change: D294G

DomainStartEndE-ValueType
S_TKc 24 308 7.42e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114752
AA Change: D217G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110400
Gene: ENSMUSG00000053436
AA Change: D217G

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 193 7.3e-22 PFAM
Pfam:Pkinase 1 231 1.9e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114754
AA Change: D217G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110402
Gene: ENSMUSG00000053436
AA Change: D217G

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 193 7.3e-22 PFAM
Pfam:Pkinase 1 231 1.9e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114758
SMART Domains Protein: ENSMUSP00000110406
Gene: ENSMUSG00000053436

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 24 242 3.8e-32 PFAM
Pfam:Pkinase 24 257 9.4e-65 PFAM
Pfam:Kdo 40 181 3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151613
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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 environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for various null mutations are embryonic to perinatal lethal showing multiple organ system defects. Mice homozygous for a knock-out mutation exhibit abnormal myoblast differentiation and delayed myofiber growth and maturation. [provided by MGI curators]
Allele List at MGI

All alleles(20) : Targeted, knock-out(4) Targeted, other(9) Gene trapped(7)
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,860,615 (GRCm39) I112T probably benign Het
Acvr1b T C 15: 101,100,939 (GRCm39) I367T possibly damaging Het
Akr1b8 G A 6: 34,333,359 (GRCm39) probably null Het
Ash1l T C 3: 88,979,783 (GRCm39) V2769A possibly damaging Het
Asxl3 A T 18: 22,650,795 (GRCm39) D928V probably damaging Het
Atp1a4 A T 1: 172,085,223 (GRCm39) V66E possibly damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Cbx2 T A 11: 118,919,935 (GRCm39) I500N probably damaging Het
Ccdc82 A T 9: 13,252,260 (GRCm39) H184L probably benign Het
Cd84 A T 1: 171,700,887 (GRCm39) H216L possibly damaging Het
Ceacam15 T C 7: 16,407,410 (GRCm39) T36A probably benign Het
Cebpd A G 16: 15,705,385 (GRCm39) D66G probably damaging Het
Clec1b C A 6: 129,377,097 (GRCm39) L47I probably damaging Het
Cracr2b A G 7: 141,043,451 (GRCm39) D43G probably damaging Het
Crbn T A 6: 106,767,932 (GRCm39) Q173L possibly damaging Het
Cspg4 T C 9: 56,805,489 (GRCm39) V2100A probably damaging Het
Cyp46a1 T C 12: 108,324,345 (GRCm39) L374P probably damaging Het
Dhx16 T A 17: 36,196,831 (GRCm39) V607E probably damaging Het
Dido1 A G 2: 180,329,352 (GRCm39) S357P probably damaging Het
Dnah6 T A 6: 73,169,405 (GRCm39) I399F probably benign Het
Dock10 T C 1: 80,584,337 (GRCm39) E123G possibly damaging Het
Dstyk A G 1: 132,391,128 (GRCm39) D843G probably benign Het
Efcab12 C A 6: 115,800,610 (GRCm39) V138F probably damaging Het
Egf A G 3: 129,511,689 (GRCm39) F493L probably damaging Het
Ephx1 A G 1: 180,822,256 (GRCm39) F220S probably damaging Het
Exoc6 T C 19: 37,597,530 (GRCm39) F644L probably damaging Het
F13b A G 1: 139,429,542 (GRCm39) Y20C unknown Het
Fam184b T A 5: 45,740,230 (GRCm39) K319* probably null Het
Flrt2 T A 12: 95,747,462 (GRCm39) L600* probably null Het
Gbgt1 T C 2: 28,388,453 (GRCm39) F46S possibly damaging Het
Gli2 T C 1: 118,763,759 (GRCm39) E1464G probably damaging Het
Hdac9 A G 12: 34,423,959 (GRCm39) V501A possibly damaging Het
Heca T C 10: 17,791,057 (GRCm39) H333R probably benign Het
Hirip3 G A 7: 126,463,834 (GRCm39) probably null Het
Igsf8 G A 1: 172,146,479 (GRCm39) W51* probably null Het
Kif21a C A 15: 90,824,748 (GRCm39) R1342L possibly damaging Het
Krt73 T C 15: 101,710,510 (GRCm39) N75D probably benign Het
Macf1 T A 4: 123,366,190 (GRCm39) Y1292F probably benign Het
Macroh2a1 A C 13: 56,230,997 (GRCm39) C297G possibly damaging Het
Mgat5 T A 1: 127,318,495 (GRCm39) V330D probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 A T 13: 100,580,682 (GRCm39) F188L probably damaging Het
Ncoa3 T C 2: 165,901,731 (GRCm39) S1035P probably benign Het
Ndn T A 7: 61,998,570 (GRCm39) W139R probably damaging Het
Nes T C 3: 87,879,102 (GRCm39) V198A possibly damaging Het
Or4c107 G T 2: 88,789,216 (GRCm39) M135I probably damaging Het
Or4c35 A G 2: 89,808,250 (GRCm39) I43V possibly damaging Het
Or51ab3 T G 7: 103,201,183 (GRCm39) L64V probably damaging Het
Or52p1 T A 7: 104,267,631 (GRCm39) C248* probably null Het
Or5b111 T A 19: 13,291,178 (GRCm39) H157L probably benign Het
Or5p72 T C 7: 108,022,309 (GRCm39) V177A possibly damaging Het
Pcf11 G A 7: 92,308,985 (GRCm39) probably benign Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Pipox T G 11: 77,784,596 (GRCm39) Q4P probably benign Het
Pla2g4c C T 7: 13,077,439 (GRCm39) T327I probably null Het
Plppr1 C T 4: 49,323,384 (GRCm39) R225W probably damaging Het
Pnpla6 T A 8: 3,571,412 (GRCm39) V145D probably damaging Het
Pnpla7 T C 2: 24,942,329 (GRCm39) Y83H probably damaging Het
Rif1 T A 2: 51,996,954 (GRCm39) L970Q probably null Het
Rimklb C A 6: 122,433,242 (GRCm39) E303* probably null Het
Rpl13a A T 7: 44,776,242 (GRCm39) probably benign Het
Rttn T A 18: 89,029,135 (GRCm39) probably null Het
Sf3b3 G A 8: 111,571,137 (GRCm39) R10W probably damaging Het
Skint4 G A 4: 111,975,430 (GRCm39) C130Y probably damaging Het
Snap91 A G 9: 86,674,070 (GRCm39) S593P possibly damaging Het
Ssb A G 2: 69,699,194 (GRCm39) Q209R probably benign Het
Stap1 A T 5: 86,229,044 (GRCm39) I71L probably benign Het
Syna C A 5: 134,587,209 (GRCm39) R580L probably damaging Het
Tacc2 T A 7: 130,226,591 (GRCm39) M1111K possibly damaging Het
Tanc2 T C 11: 105,758,306 (GRCm39) L689P probably damaging Het
Tasor2 T C 13: 3,623,686 (GRCm39) E1406G possibly damaging Het
Tcstv7b T C 13: 120,702,362 (GRCm39) W53R probably damaging Het
Tdrd5 A C 1: 156,105,005 (GRCm39) C463W probably damaging Het
Tet1 A G 10: 62,674,627 (GRCm39) F1150L probably damaging Het
Tia1 T A 6: 86,397,382 (GRCm39) F118L probably damaging Het
Trav3-1 A T 14: 52,818,460 (GRCm39) T45S possibly damaging Het
Uaca A T 9: 60,761,711 (GRCm39) Y235F possibly damaging Het
Ube4b T C 4: 149,415,827 (GRCm39) N44S possibly damaging Het
Vmn2r93 T A 17: 18,525,255 (GRCm39) H304Q probably benign Het
Wdr18 A G 10: 79,801,069 (GRCm39) I161V probably benign Het
Zfp112 A G 7: 23,826,399 (GRCm39) H789R probably damaging Het
Zfp873 A G 10: 81,895,814 (GRCm39) T182A possibly damaging Het
Zscan2 T A 7: 80,525,150 (GRCm39) S290R probably damaging Het
Zup1 A T 10: 33,824,980 (GRCm39) D167E possibly damaging Het
Other mutations in Mapk14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Mapk14 APN 17 28,944,820 (GRCm39) critical splice donor site probably null
IGL03013:Mapk14 APN 17 28,947,323 (GRCm39) splice site probably benign
Hanzhou UTSW 17 28,964,052 (GRCm39) missense probably damaging 0.99
Wanzhou UTSW 17 28,943,798 (GRCm39) missense probably damaging 1.00
D4043:Mapk14 UTSW 17 28,964,124 (GRCm39) missense probably damaging 1.00
R0418:Mapk14 UTSW 17 28,910,763 (GRCm39) missense probably benign
R4513:Mapk14 UTSW 17 28,943,798 (GRCm39) missense probably damaging 1.00
R4514:Mapk14 UTSW 17 28,943,798 (GRCm39) missense probably damaging 1.00
R4981:Mapk14 UTSW 17 28,960,765 (GRCm39) missense probably damaging 1.00
R5418:Mapk14 UTSW 17 28,960,817 (GRCm39) missense possibly damaging 0.65
R7477:Mapk14 UTSW 17 28,964,052 (GRCm39) missense probably damaging 0.99
R7792:Mapk14 UTSW 17 28,965,271 (GRCm39) missense probably damaging 0.99
R7915:Mapk14 UTSW 17 28,947,928 (GRCm39) missense probably benign 0.00
R8208:Mapk14 UTSW 17 28,943,807 (GRCm39) missense probably damaging 1.00
R8241:Mapk14 UTSW 17 28,934,374 (GRCm39) missense possibly damaging 0.89
R8407:Mapk14 UTSW 17 28,963,983 (GRCm39) missense probably benign
R9048:Mapk14 UTSW 17 28,947,358 (GRCm39) missense probably benign
R9095:Mapk14 UTSW 17 28,934,413 (GRCm39) missense probably benign 0.00
R9169:Mapk14 UTSW 17 28,960,814 (GRCm39) missense probably benign
R9549:Mapk14 UTSW 17 28,934,415 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCAATGCGTACATGGAGGG -3'
(R):5'- TAGGTCCAATCTCCAGCACTG -3'

Sequencing Primer
(F):5'- CGTACATGGAGGGAAGGGGTTAC -3'
(R):5'- GCTTTTAATCTCAGCACTCGGAAGG -3'
Posted On 2015-10-08