Ift43 - SNV Details



 Gene Information 
Gene Name Ift43
Old Gene Names for Ift43 1700019e19rik , R75064
Gene Description intraflagellar transport 43 [Source:MGI Symbol;Acc:MGI:1923661]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; intraciliary retrograde transport; cilium morphogenesis; intraciliary transport particle A; cytoskeleton; microtubule organizing center; microtubule cytoskeleton; molecular_function
Homolog in other species IFT43
Omim http://omim.org/entry/614068
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000007867
Chromosome 12
Coordinate 86,161,177     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 17
Allele Frequency
T:R0.53
A:V0.47
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02704
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved