|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 1|
|Is this an essential gene?||Probably essential (E-score: 0.856)|
|Stock #||R8110 (G1)|
|Chromosomal Location||111746428-111808993 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 111755313 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 1136 (V1136A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104890 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109267]|
|AlphaFold||no structure available at present|
AA Change: V1136A
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V1136A
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous allele are born with one or both eyes open, defects in eye morphology, and defects in ear morphology and function. Mice homozygous for a knock-out allele are born with open eyes and exhibit increased response to aortic banding and blood vessel healing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map3k1||
(F):5'- TTTTCCACCTGCAGCTGAGG -3'
(R):5'- GTAGCATGACACTTGATCTGGG -3'
(F):5'- CTGCAGCTGAGGGACGATG -3'
(R):5'- ACACTTGATCTGGGCAGTGC -3'