|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase 4|
|Synonyms||Serk1, MKK4, Sek1, JNKK1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3800 (G1)|
|Chromosomal Location||65688243-65788297 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 65690781 bp|
|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]|
|Predicted Effect||probably null
AA Change: Y368*
AA Change: Y368*
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9711|
|Coding Region Coverage||
|Validation Efficiency||95% (52/55)|
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||
|Other mutations in Map2k4||
(F):5'- CCAGTCTTATTGCACATGGTGTC -3'
(R):5'- GTGTCCACATCCATCCACTG -3'
(F):5'- TCTGGGCGAGCAATAAAAACACTG -3'
(R):5'- CCACTGAAATGTTCATGCGATGAG -3'