|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 1|
|Is this an essential gene?||Probably essential (E-score: 0.911)|
|Stock #||R7397 (G1)|
|Chromosomal Location||111746428-111808993 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 111755208 bp|
|Amino Acid Change||Alanine to Valine at position 1171 (A1171V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104890 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109267]|
|Predicted Effect||probably damaging
AA Change: A1171V
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: A1171V
|Coding Region Coverage||
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'- ACTGCAGAGACTCAAAATCATTGC -3'
(R):5'- AGCTCAACTCCAGCATCGAG -3'
(F):5'- ATCATTGCCACATACTTATGCAG -3'
(R):5'- ATCGAGGACCTTCTTGAAGC -3'