D17Wsu92e - SNV Details



 Gene Information 
Gene Name D17wsu92e
Old Gene Names for D17Wsu92e Au020189 , C80239
Gene Description DNA segment, Chr 17, Wayne State University 92, expressed [Source:MGI Symbol;Acc:MGI:106281]
Uniprot Name
CCDS Name
Gene GO
protein binding
Homolog in other species C6ORF106
Immgen Expression
HIGH
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000056692
Chromosome 17
Coordinate 27,767,919     (Assembly: GRCm38)    
Ref Base A
Codon Change Tac/Cac
Var Base G
Zygosity Heterozygous
Read Depth 41
Allele Frequency
A:0.54
G:0.46
Amino Acid Position 278
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL00916
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved