Map3k5 - SNV Details



 Gene Information 
Gene Name Map3k5
Old Gene Names for Map3k5 7420452d20rik , Mekk5
Gene Description mitogen-activated protein kinase kinase kinase 5 [Source:MGI Symbol;Acc:MGI:1346876]
MGI phenotype Homozygous mutant mice are overtly normal, however apoptosis abnormalities are evident in cultured cells and after induced heart damage.
Uniprot Name
CCDS Name
Gene GO
activation of MAPK activity; protein kinase activity; intrinsic apoptotic signaling pathway in response to oxidative stress; activation of MAPKK activity; positive regulation of apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; endoplasmic reticulum; transferase activity
transferring phosphorus-containing groups; protein homodimerization activity; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein binding; JNK cascade; magnesium ion binding; regulation of cell death; protein phosphorylation; innate immune response; cellular response to hydrogen peroxide; MAPK cascade; protein tyrosine kinase activity; ATP binding; MAP kinase kinase kinase activity; hydrogen peroxide-mediated programmed cell death; protein phosphatase binding; protein kinase binding; cysteine-type endopeptidase activator activity involved in apoptotic process; protein serine/threonine kinase activity
Homolog in other species MAP3K5
Omim http://omim.org/entry/602448
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000071369
Chromosome 10
Coordinate 20,056,484     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.43
A:V0.57
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02479
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved