Ift172 - SNV Details



 Gene Information 
Gene Name Ift172
Old Gene Names for Ift172 4930553f24rik
Gene Description intraflagellar transport 172 [Source:MGI Symbol;Acc:MGI:2682064]
Uniprot Name
CCDS Name
Gene GO
cilium; dorsal/ventral pattern formation; microtubule basal body; protein processing; cilium assembly; protein binding; determination of left/right symmetry; microtubule-based flagellum; smoothened signaling pathway; neural tube formation
Homolog in other species IFT172
Omim http://omim.org/entry/607386
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038564
Chromosome 5
Coordinate 31,280,714     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 22
Allele Frequency
T:R0.59
C:V0.41
Amino Acid Position 426
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01758
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved