Incidental Mutation 'IGL02628:Map2k4'
ID301162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k4
Ensembl Gene ENSMUSG00000033352
Gene Namemitogen-activated protein kinase kinase 4
SynonymsSerk1, MKK4, Sek1, JNKK1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02628
Quality Score
Status
Chromosome11
Chromosomal Location65688243-65788297 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65690741 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 382 (I382F)
Ref Sequence ENSEMBL: ENSMUSP00000041282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046963] [ENSMUST00000125598]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046963
AA Change: I382F

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: I382F

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
S_TKc 100 365 9.38e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125598
SMART Domains Protein: ENSMUSP00000137656
Gene: ENSMUSG00000033352

DomainStartEndE-ValueType
Pfam:Pkinase 34 128 8.4e-27 PFAM
Pfam:Kinase-like 36 128 8.9e-8 PFAM
Pfam:Pkinase_Tyr 37 129 6.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140740
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 mitogen-activated protein kinase (MAPK) family. Members of this family 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. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal liver development with a deficiency of parenchymal hepatocytes, severe anemia, and lethality before embryonic day 14.0. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 T A 12: 70,954,656 probably null Het
Ankhd1 T C 18: 36,647,703 V1936A probably benign Het
Ap3m1 C A 14: 21,045,520 E81* probably null Het
Camkk1 T C 11: 73,029,169 probably benign Het
Cbwd1 T A 19: 24,957,905 E78D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cmc1 A G 9: 118,065,308 Y33H probably damaging Het
Cntnap5b A T 1: 100,072,069 D184V probably damaging Het
F5 A T 1: 164,194,075 D1373V probably damaging Het
Fam169a T C 13: 97,111,288 probably benign Het
Fem1c G A 18: 46,505,952 R328W probably damaging Het
Gba2 T C 4: 43,568,919 R579G probably benign Het
Gm42641 G A 9: 109,058,630 Q98* probably null Het
Hsd17b7 A G 1: 169,964,489 F117L possibly damaging Het
Itsn1 A G 16: 91,899,623 D38G possibly damaging Het
Map1a T C 2: 121,300,104 I467T probably damaging Het
Myh1 T G 11: 67,206,262 probably benign Het
Nr1h4 C T 10: 89,473,839 A339T probably damaging Het
Olfr190 A C 16: 59,074,792 M96R probably benign Het
Olfr429 A G 1: 174,089,190 Y50C probably benign Het
Opn4 T A 14: 34,593,057 T420S probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc17a3 T A 13: 23,842,451 M1K probably null Het
T T A 17: 8,435,358 I125N probably damaging Het
Tns2 T A 15: 102,111,828 S710T probably benign Het
Trav3-1 T A 14: 52,581,094 V75E probably benign Het
U2surp A G 9: 95,472,090 Y832H possibly damaging Het
Other mutations in Map2k4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Map2k4 APN 11 65719479 splice site probably benign
IGL01318:Map2k4 APN 11 65756263 splice site probably benign
IGL02500:Map2k4 APN 11 65696310 missense probably damaging 1.00
IGL02873:Map2k4 APN 11 65719574 missense probably damaging 0.97
IGL03124:Map2k4 APN 11 65690791 missense probably damaging 0.98
R0021:Map2k4 UTSW 11 65712284 missense probably damaging 1.00
R0021:Map2k4 UTSW 11 65712284 missense probably damaging 1.00
R0034:Map2k4 UTSW 11 65719611 splice site probably benign
R0034:Map2k4 UTSW 11 65719611 splice site probably benign
R0646:Map2k4 UTSW 11 65712275 missense probably damaging 1.00
R2073:Map2k4 UTSW 11 65693456 missense probably damaging 0.99
R2931:Map2k4 UTSW 11 65756337 missense probably damaging 0.99
R3800:Map2k4 UTSW 11 65690781 nonsense probably null
R4820:Map2k4 UTSW 11 65696375 splice site probably benign
R4913:Map2k4 UTSW 11 65709932 missense probably damaging 1.00
R5452:Map2k4 UTSW 11 65719587 missense probably damaging 0.97
R5497:Map2k4 UTSW 11 65735205 missense probably damaging 1.00
R5812:Map2k4 UTSW 11 65735205 missense probably damaging 1.00
R5976:Map2k4 UTSW 11 65709952 missense probably benign 0.31
R6282:Map2k4 UTSW 11 65707016 missense possibly damaging 0.78
R6505:Map2k4 UTSW 11 65693529 missense possibly damaging 0.63
R6784:Map2k4 UTSW 11 65691751 unclassified probably benign
R7560:Map2k4 UTSW 11 65775757 missense unknown
Posted On2015-04-16