Incidental Mutation 'IGL01510:Mapk7'
ID89184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk7
Ensembl Gene ENSMUSG00000001034
Gene Namemitogen-activated protein kinase 7
Synonymsbig MAP kinase 1, Erk5-T, BMK1, ERK5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01510
Quality Score
Status
Chromosome11
Chromosomal Location61488812-61494406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61491160 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 309 (W309R)
Ref Sequence ENSEMBL: ENSMUSP00000078087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040522] [ENSMUST00000064783] [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]
Predicted Effect probably benign
Transcript: ENSMUST00000040522
SMART Domains Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FBG 38 280 5.6e-119 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064783
SMART Domains Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FBG 38 257 3.39e-130 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000079080
AA Change: W309R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: W309R

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
S_TKc 55 347 5.66e-96 SMART
low complexity region 433 447 N/A INTRINSIC
low complexity region 476 492 N/A INTRINSIC
coiled coil region 508 544 N/A INTRINSIC
low complexity region 578 603 N/A INTRINSIC
low complexity region 620 644 N/A INTRINSIC
low complexity region 675 692 N/A INTRINSIC
low complexity region 758 772 N/A INTRINSIC
low complexity region 791 803 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101085
AA Change: W239R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034
AA Change: W239R

DomainStartEndE-ValueType
S_TKc 4 277 3.48e-73 SMART
low complexity region 363 377 N/A INTRINSIC
coiled coil region 405 441 N/A INTRINSIC
low complexity region 475 500 N/A INTRINSIC
low complexity region 517 541 N/A INTRINSIC
low complexity region 572 589 N/A INTRINSIC
low complexity region 655 669 N/A INTRINSIC
low complexity region 688 700 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108714
AA Change: W240R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034
AA Change: W240R

DomainStartEndE-ValueType
S_TKc 1 278 1.76e-74 SMART
low complexity region 364 378 N/A INTRINSIC
low complexity region 407 423 N/A INTRINSIC
coiled coil region 439 475 N/A INTRINSIC
low complexity region 509 534 N/A INTRINSIC
low complexity region 551 575 N/A INTRINSIC
low complexity region 606 623 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
low complexity region 722 734 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152755
Predicted Effect probably benign
Transcript: ENSMUST00000153441
SMART Domains Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
PDB:4IC8|B 1 49 2e-26 PDB
low complexity region 51 65 N/A INTRINSIC
low complexity region 94 110 N/A INTRINSIC
coiled coil region 126 162 N/A INTRINSIC
Coding Region Coverage
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 specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation and midgestational lethality due to multiple developmental anomalies and vascular remodelling, cardiac development, and placental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 Q6R probably damaging Het
Adam5 A T 8: 24,804,465 C373S probably damaging Het
Adgre4 T C 17: 55,818,760 probably null Het
Akap10 A T 11: 61,878,020 M614K possibly damaging Het
Amigo2 T C 15: 97,245,081 T487A probably benign Het
Asap1 T C 15: 64,158,928 D300G probably damaging Het
Atp4a C A 7: 30,720,791 L788M probably benign Het
Bcl3 T A 7: 19,809,614 H309L probably damaging Het
Cblc T C 7: 19,785,275 N376S probably benign Het
Cd200r2 A T 16: 44,909,311 I110L probably benign Het
Ceacam3 T C 7: 17,159,842 M426T probably benign Het
Cep295 G A 9: 15,354,626 R29* probably null Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ctps G T 4: 120,558,844 T194K probably damaging Het
Cul3 A G 1: 80,282,679 S318P probably damaging Het
Fasl A T 1: 161,781,953 S155T possibly damaging Het
Gldc C T 19: 30,113,721 probably null Het
Gpr21 T A 2: 37,518,421 C326* probably null Het
Gtf2a1 A G 12: 91,567,833 S216P probably benign Het
Hoxb5 A T 11: 96,303,992 S127C possibly damaging Het
Htt A T 5: 34,907,512 Q3023L probably damaging Het
Kalrn T A 16: 34,235,330 H855L possibly damaging Het
Lars T C 18: 42,242,109 I289V probably benign Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mmp12 A G 9: 7,358,307 T468A possibly damaging Het
Muc5b A T 7: 141,859,061 N1915Y unknown Het
Naprt A G 15: 75,890,988 probably benign Het
Nfatc1 T C 18: 80,698,188 Y199C probably damaging Het
Olfr857 A T 9: 19,713,279 I151F probably benign Het
Olfr919 T C 9: 38,697,905 I158V probably benign Het
Phip T A 9: 82,913,871 I566F probably benign Het
Pnpla3 T A 15: 84,171,072 probably benign Het
Ptpn13 C T 5: 103,562,300 T1567I probably damaging Het
Ptpn20 A G 14: 33,638,386 probably null Het
Ptprq G T 10: 107,712,048 T163K probably damaging Het
Slc8a1 A G 17: 81,648,365 C415R probably damaging Het
Slco4c1 A G 1: 96,867,953 S127P probably damaging Het
Tcerg1l A T 7: 138,394,305 probably benign Het
Thbd C T 2: 148,406,974 V325M probably damaging Het
Trim37 G A 11: 87,177,860 R344H probably damaging Het
Ttn T C 2: 76,872,765 probably benign Het
Uvrag G A 7: 99,004,589 Q65* probably null Het
Wrap53 G A 11: 69,562,740 S342L possibly damaging Het
Zbtb11 T G 16: 55,990,343 V288G probably damaging Het
Other mutations in Mapk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02289:Mapk7 APN 11 61489959 unclassified probably null
IGL03108:Mapk7 APN 11 61491672 missense probably damaging 1.00
IGL03342:Mapk7 APN 11 61491390 missense probably damaging 1.00
FR4340:Mapk7 UTSW 11 61490206 intron probably benign
FR4589:Mapk7 UTSW 11 61490222 intron probably benign
R1497:Mapk7 UTSW 11 61493863 missense possibly damaging 0.53
R1866:Mapk7 UTSW 11 61489413 missense probably benign 0.27
R2870:Mapk7 UTSW 11 61490212 intron probably benign
R2871:Mapk7 UTSW 11 61490212 intron probably benign
R2872:Mapk7 UTSW 11 61490212 intron probably benign
R3831:Mapk7 UTSW 11 61489854 missense possibly damaging 0.83
R3832:Mapk7 UTSW 11 61489854 missense possibly damaging 0.83
R3833:Mapk7 UTSW 11 61489854 missense possibly damaging 0.83
R4378:Mapk7 UTSW 11 61493667 missense probably damaging 1.00
R4428:Mapk7 UTSW 11 61489229 missense possibly damaging 0.90
R4642:Mapk7 UTSW 11 61490901 missense probably damaging 0.99
R4692:Mapk7 UTSW 11 61489242 missense possibly damaging 0.73
R4718:Mapk7 UTSW 11 61489254 missense possibly damaging 0.73
R4755:Mapk7 UTSW 11 61490843 missense probably damaging 1.00
R4916:Mapk7 UTSW 11 61493649 missense probably damaging 0.97
R4933:Mapk7 UTSW 11 61493908 unclassified probably benign
R5825:Mapk7 UTSW 11 61490381 missense possibly damaging 0.66
R5875:Mapk7 UTSW 11 61493698 missense probably benign 0.13
R5910:Mapk7 UTSW 11 61493621 start codon destroyed probably benign 0.01
R7201:Mapk7 UTSW 11 61489172 missense probably benign 0.33
R7465:Mapk7 UTSW 11 61490453 missense probably damaging 1.00
R7797:Mapk7 UTSW 11 61489415 missense possibly damaging 0.72
RF031:Mapk7 UTSW 11 61490234 intron probably benign
Z1177:Mapk7 UTSW 11 61491362 missense probably damaging 1.00
Posted On2013-12-03