|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 11|
|Is this an essential gene?||Possibly non essential (E-score: 0.418)|
|Stock #||R6052 (G1)|
|Chromosomal Location||5689131-5702862 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 5697402 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 555 (D555E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004156 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004156]|
|Predicted Effect||probably benign
AA Change: D555E
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: D555E
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (80/83)|
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'- TGGCCAATAAGTGACAGAGC -3'
(R):5'- GAATCTAGGTACCACGTGGC -3'
(F):5'- GCACAAATTCAGACATTCTCATTGC -3'
(R):5'- AGGTACCACGTGGCTTCATC -3'