Vps13b - SNV Details



 Human Rare Diseases 
Cohen syndrome
Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness

 Gene Information 
Gene Name Vps13b
Old Gene Names for Vps13b C330002d13rik , C87206 , Coh1 , 1810042b05rik , 2310042e16rik
Gene Description vacuolar protein sorting 13B (yeast) [Source:MGI Symbol;Acc:MGI:1916380]
Uniprot Name
CCDS Name
Gene GO
biological_process
cellular_component
molecular_function
protein localization
Homolog in other species VPS13B
Immgen Expression
MEDIAN
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
LOW
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037646
Chromosome 15
Coordinate 35,846,900     (Assembly: GRCm38)    
Ref Base G
Codon Change Gac/Tac
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
G:0.64
T:0.36
Amino Acid Position 2610
Amino Acid Change D->Y (Aspartic acid -> Tyrosine)
Sample ID IGL00784
Median Base Quality 38.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 19 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved