Phf3 - SNV Details



 Gene Information 
Gene Name Phf3
Old Gene Names for Phf3 2310061n19rik , Ai315311 , Au018519 , Au020177
Gene Description PHD finger protein 3 [Source:MGI Symbol;Acc:MGI:2446126]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; zinc ion binding; protein binding; nucleus; cellular_component; biological_process; molecular_function
Homolog in other species PHF3
Omim http://omim.org/entry/607789
Immgen Expression
HIGH
Gnf Expression
MEDIAN(HIGH IN PREOPTIC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048874
Chromosome 1
Coordinate 30,808,728     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Tcc
Var Base A
Zygosity Heterozygous
Read Depth 86
Allele Frequency
T:R0.47
A:V0.51
Amino Acid Position 1245
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL01360
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0.68
Polyphen Prediction Possibly damaging
Sift Score 0.17
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000085650:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Spen paralogue and orthologue SPOC, C-terminal SPOC_C IPR012921 ENSMUSP00000085650 Pfam 1188
1294 Description available Search pathways

 Availability Details 
Availability Cryopreserved