Clint1 - SNV Details



 Gene Information 
Gene Name Clint1
Old Gene Names for Clint1 Ai642036 , Aw537616 , C530049i24rik
Gene Description clathrin interactor 1 [Source:MGI Symbol;Acc:MGI:2144243]
Uniprot Name
CCDS Name
Gene GO
clathrin binding; protein binding; phospholipid binding; Golgi apparatus
Homolog in other species CLINT1
Omim http://omim.org/entry/607265
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000006169
Chromosome 11
Coordinate 45,909,019     (Assembly: GRCm38)    
Ref Base T
Codon Change gTc/gCc
Var Base C
Zygosity Heterozygous
Read Depth 43
Allele Frequency
T:R0.51
C:V0.49
Amino Acid Position 535
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01339
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.12
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved