Bbs7 - SNV Details



 Human Rare Diseases 
Bardet-Biedl syndrome

 Gene Information 
Gene Name Bbs7
Old Gene Names for Bbs7 8430406n16rik
Gene Description Bardet-Biedl syndrome 7 (human) [Source:MGI Symbol;Acc:MGI:1918742]
Uniprot Name
CCDS Name
Gene GO
cilium membrane; protein binding; fat cell differentiation; BBSome; biological_process; centrosome; molecular_function
Homolog in other species BBS7
Omim http://omim.org/entry/607590
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS)
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037325
Chromosome 3
Coordinate 36,594,409     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtc/Atc
Var Base T
Zygosity Heterozygous
Read Depth 21
Allele Frequency
C:R0.38
T:V0.62
Amino Acid Position 397
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL02212
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.81
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved