Atp9a - SNV Details



 Gene Information 
Gene Name Atp9a
Gene Description ATPase, class II, type 9A [Source:MGI Symbol;Acc:MGI:1330826]
Uniprot Name
CCDS Name
Gene GO
perinuclear region of cytoplasm; early endosome; trans-Golgi network; membrane; ATPase activity
coupled to transmembrane movement of ions
phosphorylative mechanism; catalytic activity; integral to membrane; metal ion binding; phospholipid-translocating ATPase activity; metabolic process; early endosome membrane; magnesium ion binding; nucleotide binding; cation transport; ATP binding; hydrolase activity
acting on acid anhydrides
catalyzing transmembrane movement of substances; phospholipid transport; recycling endosome; Golgi apparatus
Homolog in other species ATP9A
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, C2C12, UMBLICALCORD, NIH.3T3, OSTEO GROUP, EPITH GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027546
Chromosome 2
Coordinate 168,652,668     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:R0.41
T:V0.58
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02606
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved