Fat1 - SNV Details

 Gene Information 
Gene Name Fat1
Old Gene Names for Fat1 2310038e12rik , Au023433 , Fath
Gene Description FAT tumor suppressor homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:109168]
MGI phenotype Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.
Uniprot Name
Gene GO
perinuclear region of cytoplasm; membrane; homophilic cell adhesion; establishment or maintenance of cell polarity; cell-cell junction; protein binding; single organismal cell-cell adhesion; integral component of membrane; actin filament organization; cell junction; nucleus; extracellular vesicular exosome; lamellipodium; filopodium; plasma membrane; calcium ion binding
Homolog in other species FAT1
Omim http://omim.org/entry/600976
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000070047
Chromosome 8
Coordinate 45,024,314     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 39
Allele Frequency
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02953
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved