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; integral to membrane; homophilic cell adhesion; establishment or maintenance of cell polarity; cell-cell junction; protein binding; cell-cell adhesion; actin filament organization; cell junction; nucleus; 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 45,023,049     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtt/Att
Var Base A
Zygosity Heterozygous
Read Depth 59
Allele Frequency
Amino Acid Position 1688
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL01606
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 35 Other Mutations

Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.42
Sift Prediction tolerated

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cadherin Cadherin IPR002126 ENSMUSP00000096394 Prosite_profiles 1670
1767 Description available Search pathways
Cadherin Cadherin IPR002126 ENSMUSP00000096394 Pfam 1674
1757 Description available Search pathways
Cadherin-like Cadherin-like IPR015919 ENSMUSP00000096394 Superfamily 1662
1759 Description available Search pathways

 Availability Details 
Availability Cryopreserved