Mga - SNV Details



 Gene Information 
Gene Name Mga
Old Gene Names for Mga C130042m01rik , Mad5 , Av312082 , D030062c11rik , C80739
Gene Description MAX gene associated [Source:MGI Symbol;Acc:MGI:1352483]
Uniprot Name
CCDS Name
Gene GO
MLL1 complex; transcription
DNA-dependent; DNA binding; sequence-specific DNA binding transcription factor activity; transcription factor complex; nucleus; protein dimerization activity; regulation of transcription
DNA-dependent
Homolog in other species MGA
Omim http://omim.org/entry/154360
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033943
Chromosome 2
Coordinate 119,902,912     (Assembly: GRCm38)    
Ref Base T
Codon Change gaT/gaA
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
T:R0.47
A:V0.53
Amino Acid Position 80
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL01786
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.15
Sift Prediction tolerated

 Availability Details 
Availability