Rph3a - SNV Details



 Gene Information 
Gene Name Rph3a
Old Gene Names for Rph3a 2900002p20rik , Au022689 , Aw108370
Gene Description rabphilin 3A [Source:MGI Symbol;Acc:MGI:102788]
MGI phenotype Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes.
Uniprot Name
CCDS Name
Gene GO
selenium binding; transporter activity; synaptic vesicle membrane; zinc ion binding; protein complex; extrinsic to membrane; protein binding; intracellular protein transport; cell junction; cytosol; phosphate ion binding; protein complex binding; phosphatidylinositol-4
5-bisphosphate binding; Rab GTPase binding; secretory granule; inositol 1
4
5 trisphosphate binding; calcium ion binding; brain development
Homolog in other species RPH3A
Omim http://omim.org/entry/612159
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000029608
Chromosome 5
Coordinate 120,946,348     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 15
Allele Frequency
T:R0.67
C:V0.33
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL02394
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved