|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 11|
|Essential gene?||Possibly non essential (E-score: 0.451)|
|Stock #||R4613 (G1)|
|Chromosomal Location||5689131-5702862 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 5697471 bp (GRCm38)|
|Amino Acid Change||Glutamine to Histidine at position 578 (Q578H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004156 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004156]|
AA Change: Q578H
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: Q578H
|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 member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted or spontaneous mutation display a pattern of dark red stripes of thin dorsal epithelium during pre-wean development, and necrotic dental pulp has been reported for the spontaneous mutant. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map3k11||
(F):5'- ACCCACCCATCCTAGCTGTTAG -3'
(R):5'- TCAGCAAGATCCATGAGCTC -3'
(F):5'- CTAGCTGTTAGGATGTAGGATAAGG -3'
(R):5'- AGATCCATGAGCTCCGTACTC -3'