|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 15|
|Is this an essential gene?||Probably non essential (E-score: 0.146)|
|Stock #||R3689 (G1)|
|Chromosomal Location||159988433-160123351 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 160122572 bp|
|Amino Acid Change||Asparagine to Lysine at position 1295 (N1295K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033665 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033662] [ENSMUST00000033665]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: N1295K
PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N1295K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0982|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
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 mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010]
PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit hyperactivation of the SPAK/OSR1 and Na+Cl- cotransporter (NCC) pathway in the renal tubules and develop mild hypertension. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map3k15||
(F):5'- ACCGACAGAGAGCTTATAGACTGG -3'
(R):5'- CATAGGAATGCTGGTGGCTC -3'
(F):5'- GAGCTTATAGACTGGTTGCAAC -3'
(R):5'- GAAAGGTCTATCACTTCATGCCTTG -3'