Incidental Mutation 'R4513:Mapk14'
ID 334539
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 041759-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4513 (G1)
Quality Score 192
Status Validated
Chromosome 17
Chromosomal Location 28910303-28967380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28943798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 129 (F129S)
Ref Sequence ENSEMBL: ENSMUSP00000116914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004990] [ENSMUST00000062694] [ENSMUST00000114752] [ENSMUST00000114754] [ENSMUST00000114758] [ENSMUST00000124886]
AlphaFold P47811
Predicted Effect probably damaging
Transcript: ENSMUST00000004990
AA Change: F129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004990
Gene: ENSMUSG00000053436
AA Change: F129S

DomainStartEndE-ValueType
S_TKc 24 308 3.46e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000062694
AA Change: F129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061958
Gene: ENSMUSG00000053436
AA Change: F129S

DomainStartEndE-ValueType
S_TKc 24 308 7.42e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114752
AA Change: F52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110400
Gene: ENSMUSG00000053436
AA Change: F52S

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: F52S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110402
Gene: ENSMUSG00000053436
AA Change: F52S

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 193 7.3e-22 PFAM
Pfam:Pkinase 1 231 1.9e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114758
AA Change: F129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110406
Gene: ENSMUSG00000053436
AA Change: F129S

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 probably damaging
Transcript: ENSMUST00000124886
AA Change: F129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116914
Gene: ENSMUSG00000053436
AA Change: F129S

DomainStartEndE-ValueType
Pfam:Pkinase 24 203 3.9e-50 PFAM
Pfam:Pkinase_Tyr 24 203 1.9e-25 PFAM
Pfam:Kdo 39 181 3.9e-7 PFAM
Meta Mutation Damage Score 0.9250 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (56/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,717,947 (GRCm39) I320V probably benign Het
Akap6 T C 12: 52,842,787 (GRCm39) V45A probably benign Het
Ankrd28 A T 14: 31,465,242 (GRCm39) S312T probably damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Cfap96 G T 8: 46,421,175 (GRCm39) T116K probably damaging Het
Cntn3 A T 6: 102,145,943 (GRCm39) I966N probably benign Het
D630003M21Rik T C 2: 158,046,722 (GRCm39) T752A probably benign Het
Dmxl2 A C 9: 54,327,168 (GRCm39) S952R probably null Het
Dop1a G A 9: 86,402,612 (GRCm39) E1271K probably benign Het
Fgfr3 A G 5: 33,880,460 (GRCm39) probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Got1l1 C T 8: 27,688,513 (GRCm39) M279I probably benign Het
Guf1 T C 5: 69,719,005 (GRCm39) V230A probably benign Het
Hsd17b14 C T 7: 45,212,339 (GRCm39) L124F probably benign Het
Id3 G T 4: 135,871,669 (GRCm39) probably benign Het
Itga8 T C 2: 12,187,547 (GRCm39) S711G probably benign Het
Lgr4 T C 2: 109,842,361 (GRCm39) M782T possibly damaging Het
Lsm12 T C 11: 102,057,909 (GRCm39) probably null Het
Map1b T A 13: 99,580,741 (GRCm39) D117V probably damaging Het
Map3k11 A G 19: 5,752,238 (GRCm39) T807A probably damaging Het
Mapkbp1 T A 2: 119,854,174 (GRCm39) I1257N possibly damaging Het
Mcm3 A G 1: 20,880,456 (GRCm39) Y459H probably damaging Het
Mkln1 T C 6: 31,410,093 (GRCm39) probably benign Het
Msh5 A T 17: 35,249,664 (GRCm39) I627N possibly damaging Het
Nfkbiz T C 16: 55,637,204 (GRCm39) H488R probably benign Het
Nrg1 G T 8: 32,967,105 (GRCm39) probably benign Het
Or1j19 A G 2: 36,676,782 (GRCm39) M82V probably benign Het
Or51q1 T C 7: 103,628,648 (GRCm39) V89A probably benign Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5b120 A T 19: 13,479,986 (GRCm39) Y93F probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhg4 T A 8: 106,107,034 (GRCm39) C910S probably damaging Het
Ppp1r18 A G 17: 36,179,196 (GRCm39) E357G probably damaging Het
Pramel23 T C 4: 143,424,718 (GRCm39) M242V probably benign Het
Rbm11 T C 16: 75,393,475 (GRCm39) F57S probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Skint5 A G 4: 113,599,382 (GRCm39) V719A unknown Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,992 (GRCm39) Y232* probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Spanxn4 A T 12: 62,734,886 (GRCm39) noncoding transcript Het
Spata31d1d T C 13: 59,876,368 (GRCm39) Q389R probably benign Het
Srgap1 A G 10: 121,706,231 (GRCm39) probably null Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Tle2 A G 10: 81,423,394 (GRCm39) D491G probably damaging Het
Tmem33 T C 5: 67,443,468 (GRCm39) V215A probably benign Het
Trav6-3 A G 14: 53,667,548 (GRCm39) T7A probably benign Het
Ube2q2 C A 9: 55,057,084 (GRCm39) P56T probably benign Het
Unc79 T C 12: 102,988,019 (GRCm39) V208A probably damaging Het
Xkr7 T C 2: 152,896,553 (GRCm39) I469T probably benign 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
R4514:Mapk14 UTSW 17 28,943,798 (GRCm39) missense probably damaging 1.00
R4674:Mapk14 UTSW 17 28,963,996 (GRCm39) splice site probably null
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'- ATAGCGTCCATCCAGGTGTC -3'
(R):5'- ACTGGCCTGGGAAATACAAG -3'

Sequencing Primer
(F):5'- CGTGCTTTCTTTACAGATCAGG -3'
(R):5'- CCTGGGAAATACAAGAGCAGC -3'
Posted On 2015-08-18