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
protein binding; protein localization; 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 ENSMUSG00000020220
Chromosome 4
Coordinate 145,088,322     (Assembly: GRCm38)    
Ref Base G
Codon Change aCa/aTa
Var Base A
Zygosity Heterozygous
Read Depth 40
Allele Frequency
G:R0.60
A:V0.40
Amino Acid Position 3184
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL01338
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.81
Polyphen Prediction Possibly damaging
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved