Incidental Mutation 'IGL01843:Mapk6'
ID178109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk6
Ensembl Gene ENSMUSG00000042688
Gene Namemitogen-activated protein kinase 6
SynonymsMapk4, D130053K17Rik, ERK3, Prkm6, Mapk63, Prkm4, Erk3, 2610021I23Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.545) question?
Stock #IGL01843
Quality Score
Status
Chromosome9
Chromosomal Location75369062-75410005 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75390290 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 315 (Y315C)
Ref Sequence ENSEMBL: ENSMUSP00000129024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049355] [ENSMUST00000168937]
Predicted Effect probably damaging
Transcript: ENSMUST00000049355
AA Change: Y315C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040315
Gene: ENSMUSG00000042688
AA Change: Y315C

DomainStartEndE-ValueType
S_TKc 20 316 8.02e-87 SMART
low complexity region 647 670 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168937
AA Change: Y315C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129024
Gene: ENSMUSG00000042688
AA Change: Y315C

DomainStartEndE-ValueType
S_TKc 20 316 8.02e-87 SMART
low complexity region 647 670 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174034
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 Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show limited fetal growth, reduced serum IGF2 levels, pulmonary hypoplasia and early neonatal death. About 40% of newborns die of acute respiratory failure exhibiting delayed lung maturation, reduced sacculation, atelectasis, and impaired type II pneumocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,553,338 probably benign Het
Ap1b1 T C 11: 5,039,169 L782P probably damaging Het
Arid1a T C 4: 133,681,454 D1914G unknown Het
C8a G A 4: 104,862,611 Q57* probably null Het
Cachd1 T C 4: 100,992,872 S1144P probably damaging Het
Cdh23 A T 10: 60,419,819 probably null Het
Cenpe A G 3: 135,218,507 Q198R possibly damaging Het
Cpne8 T C 15: 90,569,497 I228V probably benign Het
Cr2 A T 1: 195,150,914 probably benign Het
Csmd3 T C 15: 47,658,999 probably benign Het
Cyp2c23 A G 19: 44,005,607 V440A probably benign Het
Dag1 T C 9: 108,208,082 D620G possibly damaging Het
Dmxl1 T A 18: 49,878,382 L1202* probably null Het
Dnah3 T G 7: 119,943,575 H3538P probably benign Het
Dock8 A T 19: 25,089,928 Q312L probably benign Het
E2f7 T G 10: 110,774,735 V407G probably benign Het
F13b T C 1: 139,516,427 S500P probably damaging Het
F5 A G 1: 164,211,826 I2002V probably benign Het
Flywch1 T A 17: 23,760,345 M439L possibly damaging Het
Gcn1l1 C A 5: 115,619,700 A2488E probably damaging Het
Gria1 T C 11: 57,317,774 S832P probably damaging Het
Hnrnpr T C 4: 136,339,413 probably benign Het
Hps3 A G 3: 20,029,001 I177T probably benign Het
Irgm2 G A 11: 58,220,341 G298D probably benign Het
Kcnk7 G A 19: 5,706,202 G152D probably damaging Het
Man2a2 T C 7: 80,362,906 T620A probably benign Het
Mapk12 A G 15: 89,137,466 probably benign Het
Mdga2 T A 12: 66,723,131 probably null Het
Met T A 6: 17,491,701 I154N probably damaging Het
Nap1l1 A G 10: 111,492,911 R234G possibly damaging Het
Olfm5 C A 7: 104,160,744 V137F possibly damaging Het
Olfr1423 G T 19: 12,036,677 H22N probably benign Het
Pcdha11 C T 18: 37,012,833 T659I probably benign Het
Pfkm T C 15: 98,129,306 V620A possibly damaging Het
Rbak A G 5: 143,176,600 probably benign Het
Rbl2 A G 8: 91,090,216 I401M probably benign Het
Rragc T C 4: 123,921,059 S183P probably damaging Het
Sept3 A G 15: 82,279,613 probably benign Het
Skiv2l2 T C 13: 112,918,561 probably benign Het
Slc22a6 A T 19: 8,626,214 probably benign Het
Spag4 A T 2: 156,068,497 T348S probably benign Het
Sptbn1 T C 11: 30,104,623 R2157G probably benign Het
Tmem168 G A 6: 13,582,941 T263M probably damaging Het
Tnik T A 3: 28,570,858 probably null Het
Tnpo2 T A 8: 85,050,508 V549E probably damaging Het
Ttll7 A C 3: 146,940,021 K545Q possibly damaging Het
Tubgcp5 T G 7: 55,799,473 D139E probably benign Het
Vmn1r233 T A 17: 20,994,599 N30Y probably damaging Het
Vmn2r25 T G 6: 123,853,003 D63A possibly damaging Het
Vmn2r79 T A 7: 87,037,277 L622Q probably damaging Het
Vmn2r84 T C 10: 130,386,279 M691V probably benign Het
Zc3hc1 A T 6: 30,372,730 probably benign Het
Other mutations in Mapk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Mapk6 APN 9 75388790 missense possibly damaging 0.79
IGL03060:Mapk6 APN 9 75397802 missense probably damaging 0.98
PIT4651001:Mapk6 UTSW 9 75397587 missense possibly damaging 0.90
R0056:Mapk6 UTSW 9 75388816 missense possibly damaging 0.66
R0056:Mapk6 UTSW 9 75388816 missense possibly damaging 0.66
R0659:Mapk6 UTSW 9 75397962 missense probably damaging 0.99
R1673:Mapk6 UTSW 9 75395569 missense probably damaging 1.00
R3419:Mapk6 UTSW 9 75397757 missense probably damaging 1.00
R4798:Mapk6 UTSW 9 75388432 missense probably benign
R5117:Mapk6 UTSW 9 75397735 missense possibly damaging 0.56
R5190:Mapk6 UTSW 9 75388344 missense probably damaging 1.00
R5521:Mapk6 UTSW 9 75393316 intron probably benign
R5579:Mapk6 UTSW 9 75388062 missense possibly damaging 0.63
R6792:Mapk6 UTSW 9 75395548 missense probably damaging 1.00
R7237:Mapk6 UTSW 9 75397613 missense probably damaging 1.00
RF013:Mapk6 UTSW 9 75388260 frame shift probably null
RF044:Mapk6 UTSW 9 75388260 frame shift probably null
RF057:Mapk6 UTSW 9 75388258 frame shift probably null
X0025:Mapk6 UTSW 9 75395508 critical splice donor site probably null
Posted On2014-05-07