Vps13d - SNV Details



 Gene Information 
Gene Name Vps13d
Old Gene Names for Vps13d Bc037490 , C86073
Gene Description vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; molecular_function
Homolog in other species VPS13D
Immgen Expression
HIGH
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW
MEDIAN
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000073719
Chromosome 4
Coordinate 144,972,750     (Assembly: GRCm38)    
Ref Base C
Codon Change aaG/aaT
Var Base A
Zygosity Heterozygous
Read Depth 18
Allele Frequency
C:R0.50
A:V0.50
Amino Acid Position 136
Amino Acid Change K->N (Lysine -> Asparagine)
Sample ID IGL01116
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved