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; metal ion binding; phospholipid-translocating ATPase activity; metabolic process; integral component of membrane; early endosome membrane; phospholipid translocation; magnesium ion binding; nucleotide binding; cation transport; ATP binding; phospholipid transport; recycling endosome; cation-transporting ATPase activity
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 168,639,959     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.60
G:V0.40
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL03310
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved