Incidental Mutation 'IGL01486:Mapk1'
ID 88760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk1
Ensembl Gene ENSMUSG00000063358
Gene Name mitogen-activated protein kinase 1
Synonyms Erk2, 9030612K14Rik, Prkm1, p42mapk, MAPK2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01486
Quality Score
Status
Chromosome 16
Chromosomal Location 16801246-16865317 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 16836144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023462] [ENSMUST00000069107] [ENSMUST00000115731] [ENSMUST00000232611]
AlphaFold P63085
Predicted Effect
SMART Domains Protein: ENSMUSP00000023462
Gene: ENSMUSG00000063358

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069107
SMART Domains Protein: ENSMUSP00000065983
Gene: ENSMUSG00000063358

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115731
SMART Domains Protein: ENSMUSP00000111396
Gene: ENSMUSG00000063358

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231420
Predicted Effect probably benign
Transcript: ENSMUST00000232611
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), 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. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutant embryos implant in the uterus, but die shortly thereafter failing to form extraembryonic tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx3 G T 3: 107,512,139 (GRCm39) C259F probably damaging Het
Ampd3 G T 7: 110,409,123 (GRCm39) probably benign Het
Atm T C 9: 53,421,513 (GRCm39) I733V probably benign Het
Chrd A G 16: 20,552,890 (GRCm39) probably null Het
Ckm G A 7: 19,155,156 (GRCm39) G262S probably damaging Het
Fbn1 A G 2: 125,231,898 (GRCm39) V412A probably benign Het
Fbxw22 G T 9: 109,207,941 (GRCm39) S443R probably damaging Het
Hdgfl2 G T 17: 56,405,733 (GRCm39) A481S possibly damaging Het
Hmcn2 G A 2: 31,226,633 (GRCm39) V203M probably damaging Het
Kdelr3 T A 15: 79,407,048 (GRCm39) V43D probably damaging Het
Klk1b8 A G 7: 43,453,113 (GRCm39) K235E probably benign Het
Macir A T 1: 97,573,731 (GRCm39) S111R probably damaging Het
Nfic T C 10: 81,243,478 (GRCm39) probably null Het
Pkd1l2 T C 8: 117,786,331 (GRCm39) T625A probably benign Het
Psd2 A G 18: 36,113,388 (GRCm39) S287G probably benign Het
Smap2 A T 4: 120,830,395 (GRCm39) F247I probably damaging Het
Spata4 T C 8: 55,055,341 (GRCm39) probably benign Het
Tff2 T G 17: 31,361,316 (GRCm39) E79A probably benign Het
Thsd7a C T 6: 12,471,079 (GRCm39) C513Y probably damaging Het
Tshz1 A G 18: 84,031,634 (GRCm39) S925P possibly damaging Het
Xrcc4 C A 13: 90,210,151 (GRCm39) E98* probably null Het
Ypel3 A G 7: 126,377,033 (GRCm39) T38A probably damaging Het
Zfhx2 C T 14: 55,304,547 (GRCm39) G1146R probably damaging Het
Zfp446 T A 7: 12,713,307 (GRCm39) probably null Het
Other mutations in Mapk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Mapk1 APN 16 16,853,322 (GRCm39) missense probably benign 0.00
IGL01764:Mapk1 APN 16 16,801,597 (GRCm39) missense possibly damaging 0.50
IGL02138:Mapk1 APN 16 16,841,316 (GRCm39) missense probably benign 0.18
IGL02701:Mapk1 APN 16 16,833,770 (GRCm39) missense probably benign 0.00
R0517:Mapk1 UTSW 16 16,833,910 (GRCm39) missense probably benign 0.02
R1609:Mapk1 UTSW 16 16,856,170 (GRCm39) splice site probably benign
R1862:Mapk1 UTSW 16 16,844,293 (GRCm39) missense probably benign 0.36
R2885:Mapk1 UTSW 16 16,844,309 (GRCm39) missense probably benign
R4205:Mapk1 UTSW 16 16,856,321 (GRCm39) intron probably benign
R4959:Mapk1 UTSW 16 16,836,170 (GRCm39) missense probably damaging 1.00
R5694:Mapk1 UTSW 16 16,836,333 (GRCm39) missense probably benign 0.02
R6630:Mapk1 UTSW 16 16,844,249 (GRCm39) missense probably damaging 1.00
R6809:Mapk1 UTSW 16 16,853,326 (GRCm39) missense probably benign 0.09
R8230:Mapk1 UTSW 16 16,843,930 (GRCm39) missense noncoding transcript
R9132:Mapk1 UTSW 16 16,856,300 (GRCm39) critical splice donor site probably null
R9214:Mapk1 UTSW 16 16,853,549 (GRCm39) missense probably benign 0.02
R9373:Mapk1 UTSW 16 16,836,154 (GRCm39) missense probably benign 0.17
Posted On 2013-11-18