Fras1 - SNV Details



 Human Rare Diseases 
Fraser syndrome

 Gene Information 
Gene Name Fras1
Old Gene Names for Fras1 E130113p14rik
Gene Description Fraser syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2385368]
MGI phenotype Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.
Uniprot Name
CCDS Name
Gene GO
basement membrane; morphogenesis of an epithelium; integral to membrane; metal ion binding; cell communication; protein transport; skin development; protein binding; plasma membrane
Homolog in other species FRAS1
Omim http://omim.org/entry/607830
Immgen Expression
MEDIAN
Gnf Expression
LOW
LOW
MEDIAN
MEDIAN
MEDIAN(HIGH IN PANCREAS, SPLEEN)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034687
Chromosome 5
Coordinate 96,758,148     (Assembly: GRCm38)    
Ref Base A
Codon Change gAa/gGa
Var Base G
Zygosity Heterozygous
Read Depth 68
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 3137
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01646
Median Base Quality 36.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.32
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved