Incidental Mutation 'R3800:Map2k4'
ID 272938
Institutional Source Beutler Lab
Gene Symbol Map2k4
Ensembl Gene ENSMUSG00000033352
Gene Name mitogen-activated protein kinase kinase 4
Synonyms Serk1, Sek1, JNKK1, MKK4
MMRRC Submission 040759-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3800 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 65579069-65679123 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 65581607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 368 (Y368*)
Ref Sequence ENSEMBL: ENSMUSP00000041282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046963] [ENSMUST00000125598]
AlphaFold P47809
Predicted Effect probably null
Transcript: ENSMUST00000046963
AA Change: Y368*
SMART Domains Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: Y368*

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
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 95% (52/55)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,385,025 (GRCm39) D313E possibly damaging Het
Abca12 C T 1: 71,305,046 (GRCm39) V2070I probably damaging Het
Adam23 C T 1: 63,590,933 (GRCm39) R467* probably null Het
Adgrf5 T C 17: 43,757,951 (GRCm39) probably benign Het
Aire A G 10: 77,877,889 (GRCm39) probably null Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap28 T C 17: 68,180,031 (GRCm39) D268G probably damaging Het
Btbd9 T C 17: 30,732,633 (GRCm39) I351V possibly damaging Het
Cacna1b C T 2: 24,548,971 (GRCm39) R1138Q probably benign Het
Caskin1 T G 17: 24,720,246 (GRCm39) V456G probably benign Het
Ccdc96 A G 5: 36,643,611 (GRCm39) D539G probably damaging Het
Cep290 T C 10: 100,408,803 (GRCm39) I2425T probably damaging Het
Cfap251 T C 5: 123,392,784 (GRCm39) probably benign Het
Col18a1 C A 10: 76,903,221 (GRCm39) G998* probably null Het
Cpe A G 8: 65,070,651 (GRCm39) V198A probably benign Het
Cux1 A G 5: 136,344,887 (GRCm39) M364T probably damaging Het
Dock8 T A 19: 25,141,716 (GRCm39) N1396K probably benign Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Eif1ad19 T C 12: 87,740,491 (GRCm39) K23E possibly damaging Het
Fat4 T A 3: 39,035,423 (GRCm39) V3025E possibly damaging Het
Fbn1 T A 2: 125,187,894 (GRCm39) D1545V possibly damaging Het
Fbxw16 T G 9: 109,265,665 (GRCm39) I385L probably damaging Het
Fnbp1 T C 2: 30,923,143 (GRCm39) E341G probably damaging Het
Gm9845 T C 3: 39,412,642 (GRCm39) noncoding transcript Het
Gmps T C 3: 63,889,866 (GRCm39) Y82H possibly damaging Het
Habp4 C T 13: 64,321,917 (GRCm39) R185C probably damaging Het
Ift122 T A 6: 115,902,867 (GRCm39) S1209T probably benign Het
Ino80c T C 18: 24,254,752 (GRCm39) Y36C probably damaging Het
Inpp5b C T 4: 124,679,138 (GRCm39) T515I probably damaging Het
Kcnj6 G A 16: 94,633,886 (GRCm39) T75M probably damaging Het
Mbd6 A G 10: 127,121,036 (GRCm39) probably benign Het
Mccc1 G A 3: 36,054,658 (GRCm39) R17W probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncoa3 T C 2: 165,901,639 (GRCm39) M1004T possibly damaging Het
Npnt C A 3: 132,612,524 (GRCm39) G87V probably damaging Het
Or10a4 C T 7: 106,696,938 (GRCm39) Q89* probably null Het
Or14j1 T G 17: 38,146,848 (GRCm39) N319K probably benign Het
Ppp2r1a A T 17: 21,182,972 (GRCm39) D552V possibly damaging Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rnf34 A G 5: 123,002,273 (GRCm39) H77R probably damaging Het
Samm50 T C 15: 84,076,575 (GRCm39) V4A probably damaging Het
Sdccag8 A T 1: 176,695,904 (GRCm39) R403* probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp6 A G 9: 79,994,735 (GRCm39) R25G possibly damaging Het
Shc2 C T 10: 79,462,707 (GRCm39) V272I probably benign Het
Smarcd3 T A 5: 24,798,225 (GRCm39) K403* probably null Het
Srgap2 T A 1: 131,238,297 (GRCm39) I672F probably damaging Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Ubash3a T C 17: 31,450,444 (GRCm39) V373A probably benign Het
Vav3 A G 3: 109,535,355 (GRCm39) K36E probably benign Het
Vmn2r65 A G 7: 84,589,738 (GRCm39) V726A possibly damaging Het
Other mutations in Map2k4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Map2k4 APN 11 65,610,305 (GRCm39) splice site probably benign
IGL01318:Map2k4 APN 11 65,647,089 (GRCm39) splice site probably benign
IGL02500:Map2k4 APN 11 65,587,136 (GRCm39) missense probably damaging 1.00
IGL02628:Map2k4 APN 11 65,581,567 (GRCm39) missense possibly damaging 0.83
IGL02873:Map2k4 APN 11 65,610,400 (GRCm39) missense probably damaging 0.97
IGL03124:Map2k4 APN 11 65,581,617 (GRCm39) missense probably damaging 0.98
R0021:Map2k4 UTSW 11 65,603,110 (GRCm39) missense probably damaging 1.00
R0021:Map2k4 UTSW 11 65,603,110 (GRCm39) missense probably damaging 1.00
R0034:Map2k4 UTSW 11 65,610,437 (GRCm39) splice site probably benign
R0034:Map2k4 UTSW 11 65,610,437 (GRCm39) splice site probably benign
R0646:Map2k4 UTSW 11 65,603,101 (GRCm39) missense probably damaging 1.00
R2073:Map2k4 UTSW 11 65,584,282 (GRCm39) missense probably damaging 0.99
R2931:Map2k4 UTSW 11 65,647,163 (GRCm39) missense probably damaging 0.99
R4820:Map2k4 UTSW 11 65,587,201 (GRCm39) splice site probably benign
R4913:Map2k4 UTSW 11 65,600,758 (GRCm39) missense probably damaging 1.00
R5452:Map2k4 UTSW 11 65,610,413 (GRCm39) missense probably damaging 0.97
R5497:Map2k4 UTSW 11 65,626,031 (GRCm39) missense probably damaging 1.00
R5812:Map2k4 UTSW 11 65,626,031 (GRCm39) missense probably damaging 1.00
R5976:Map2k4 UTSW 11 65,600,778 (GRCm39) missense probably benign 0.31
R6282:Map2k4 UTSW 11 65,597,842 (GRCm39) missense possibly damaging 0.78
R6505:Map2k4 UTSW 11 65,584,355 (GRCm39) missense possibly damaging 0.63
R6784:Map2k4 UTSW 11 65,582,577 (GRCm39) unclassified probably benign
R7560:Map2k4 UTSW 11 65,666,583 (GRCm39) missense unknown
R8071:Map2k4 UTSW 11 65,597,827 (GRCm39) missense
R9092:Map2k4 UTSW 11 65,581,599 (GRCm39) missense probably benign
R9342:Map2k4 UTSW 11 65,581,569 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAGTCTTATTGCACATGGTGTC -3'
(R):5'- GTGTCCACATCCATCCACTG -3'

Sequencing Primer
(F):5'- TCTGGGCGAGCAATAAAAACACTG -3'
(R):5'- CCACTGAAATGTTCATGCGATGAG -3'
Posted On 2015-03-25