Incidental Mutation 'IGL03342:Mapk7'
ID417290
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 #IGL03342
Quality Score
Status
Chromosome11
Chromosomal Location61488812-61494406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61491390 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 163 (L163P)
Ref Sequence ENSEMBL: ENSMUSP00000104354 (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: L232P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: L232P

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: L162P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034
AA Change: L162P

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: L163P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034
AA Change: L163P

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,287,691 T1152M possibly damaging Het
Abcg2 G T 6: 58,665,135 R136I probably damaging Het
Acap2 A G 16: 31,105,492 V641A probably damaging Het
Afg3l2 A T 18: 67,407,320 D706E probably benign Het
Bbs1 A T 19: 4,897,593 L311Q probably damaging Het
Cacna1e A G 1: 154,466,944 probably null Het
Car2 A T 3: 14,895,569 D129V probably benign Het
Catsper2 T C 2: 121,406,736 I228V probably damaging Het
Cdhr3 C A 12: 33,051,055 R452M probably benign Het
Chrm1 A T 19: 8,679,308 Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 probably benign Het
Coa7 A G 4: 108,332,229 D42G probably damaging Het
Ctsz T C 2: 174,429,140 Y187C possibly damaging Het
Cxcr6 C T 9: 123,810,407 Q165* probably null Het
Cyp3a11 G A 5: 145,855,117 P489S probably damaging Het
Cyp4f15 A T 17: 32,697,936 I276F probably damaging Het
Dsg1b T A 18: 20,409,460 M1008K probably benign Het
Dsg4 T A 18: 20,451,823 I198N probably damaging Het
Dtymk C A 1: 93,794,819 E87D probably benign Het
Dysf T A 6: 84,190,872 D1749E probably benign Het
Dzip3 G T 16: 48,929,623 Q1050K probably damaging Het
Echs1 C T 7: 140,110,113 probably benign Het
Enc1 T A 13: 97,246,470 I496N possibly damaging Het
Epc2 A T 2: 49,536,646 Y139F probably benign Het
Exo1 A T 1: 175,892,127 N246I probably benign Het
Flg2 A G 3: 93,201,235 K190R probably damaging Het
Gm5424 A T 10: 62,072,192 noncoding transcript Het
Gpbp1l1 A C 4: 116,574,543 T133P probably benign Het
Gpr155 A G 2: 73,349,678 F146S probably damaging Het
Grm1 T A 10: 11,079,971 I190L probably benign Het
Hif3a C T 7: 17,041,122 R515H possibly damaging Het
Kdm5b G A 1: 134,602,576 D442N probably benign Het
Manba A T 3: 135,517,987 I212F possibly damaging Het
Map3k13 A G 16: 21,892,231 E88G possibly damaging Het
Med1 A T 11: 98,189,180 probably null Het
Mtrf1 C T 14: 79,415,871 probably benign Het
Mtrf1 T A 14: 79,415,872 probably null Het
Mtrf1 A G 14: 79,415,980 D365G possibly damaging Het
Myadm C T 7: 3,296,887 T55I possibly damaging Het
Nlgn1 A T 3: 26,133,262 I158N probably damaging Het
Nlrc4 A G 17: 74,445,318 L690P probably damaging Het
Nlrp1a A T 11: 71,122,791 D544E probably benign Het
Nlrp2 A T 7: 5,317,483 L20Q probably damaging Het
Olfr1053 A T 2: 86,315,235 I17N possibly damaging Het
Olfr1504 A G 19: 13,887,437 Y258H probably damaging Het
Olfr390 T A 11: 73,787,483 S182T probably benign Het
Padi3 G A 4: 140,810,598 Q4* probably null Het
Pfkl A T 10: 78,005,475 I13K possibly damaging Het
Pinx1 A G 14: 63,919,569 D315G probably benign Het
Prickle3 A G X: 7,663,496 D47G probably benign Het
Psmd10 A T X: 140,956,654 V5E probably damaging Het
Rasgrf2 C A 13: 91,987,979 V605F probably damaging Het
Smarca1 G T X: 47,892,269 A84D probably damaging Het
Sp2 A G 11: 96,961,762 V112A probably damaging Het
Srgap3 G A 6: 112,775,687 R279C probably damaging Het
Ssfa2 G A 2: 79,660,452 M971I probably damaging Het
Trav21-dv12 T C 14: 53,876,044 L10P unknown Het
Vmn1r236 A T 17: 21,286,974 H118L probably benign Het
Vmn2r120 A G 17: 57,509,372 M661T probably benign Het
Vmn2r17 A T 5: 109,427,916 I218F probably damaging Het
Vmn2r41 G T 7: 8,138,683 A594D probably damaging Het
Zc2hc1a A G 3: 7,524,223 E103G possibly damaging Het
Zfp62 G T 11: 49,215,471 G130* probably null Het
Other mutations in Mapk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Mapk7 APN 11 61491160 missense probably damaging 1.00
IGL02289:Mapk7 APN 11 61489959 unclassified probably null
IGL03108:Mapk7 APN 11 61491672 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 On2016-08-02