|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 20|
|Synonyms||MLTKalpha, Zak, MLTKbeta, B230120H23Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.704)|
|Stock #||R6322 (G1)|
|Chromosomal Location||72285637-72442610 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 72433470 bp|
|Amino Acid Change||Leucine to Valine at position 488 (L488V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088334 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090824]|
|Predicted Effect||possibly damaging
AA Change: L488V
PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: L488V
|Meta Mutation Damage Score||0.094|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality at E9.5 with growth retardation. Mice homozygous for an allele lacking the SAM domain exhibit low penetrant unilateral complex hindlimb duplication phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map3k20||
(F):5'- AAATAAGGCGCTCCCACATG -3'
(R):5'- TCCTTCTAACACTGAAGAGCTC -3'
(F):5'- TAAGGCGCTCCCACATGACTTC -3'
(R):5'- CACTGCTGCGGTATTCT -3'