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
CCDS 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
MEDIAN(HIGHER IN DC.LC.SK)
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
G:R0.53
A:V0.48
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

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

 Protein domains 
ENSMUSP00000096394:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description 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
Cadherin Cadherin IPR002126 ENSMUSP00000096394 Prosite_profiles 1670
1767 Description available Search pathways

 Availability Details 
Availability Cryopreserved