|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase 1|
|Synonyms||Mek1, MAP kinase kinase 1, Prkmk1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6212 (G1)|
|Chromosomal Location||64185770-64253631 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 64205163 bp|
|Amino Acid Change||Leucine to Glutamine at position 155 (L155Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005066 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005066]|
|Predicted Effect||probably damaging
AA Change: L155Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L155Q
|Coding Region Coverage||
|Validation Efficiency||96% (52/54)|
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 dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map2k1||
(F):5'- TCTAACAAAGATACCTTGCCCTG -3'
(R):5'- AAGCCTGCCTGAGTTCTTTG -3'
(F):5'- GTCATCCTATGGGAAATGCTCTAGC -3'
(R):5'- AGCCTGCCTGAGTTCTTTGATAGC -3'