Myo9a - SNV Details



 Gene Information 
Gene Name Myo9a
Old Gene Names for Myo9a 4732465j09rik , C130068i12rik
Gene Description myosin IXa [Source:MGI Symbol;Acc:MGI:107735]
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; motor activity; integral to membrane; signal transduction; metal ion binding; myosin complex; intracellular; protein binding; GTPase activator activity; ATP binding; actin binding
Homolog in other species MYO9A
Omim http://omim.org/entry/604875
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039585
Chromosome 9
Coordinate 59,779,702     (Assembly: GRCm38)    
Ref Base T
Codon Change aTt/aAt
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.58
A:V0.42
Amino Acid Position 30
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL01918
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.15
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000122852:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ras-association Ras-assoc IPR000159 ENSMUSP00000122852 Smart 14
112 Description available Search pathways
Ras-association Ras-assoc IPR000159 ENSMUSP00000122852 Prosite_profiles 14
112 Description available Search pathways
Ras-association Ras-assoc IPR000159 ENSMUSP00000122852 Pfam 15
111 Description available Search pathways

 Availability Details 
Availability Cryopreserved