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
protein localization; cellular_component; biological_process; molecular_function
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 35,792,072     (Assembly: GRCm38)    
Ref Base T
Codon Change aTa/aCa
Var Base C
Zygosity Heterozygous
Read Depth 182
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Position 2162
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL01642
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0.68
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved