Abcf3 - SNV Details

 Gene Information 
Gene Name Abcf3
Old Gene Names for Abcf3 Au016058 , Bb119416 , Ai326318
Gene Description ATP-binding cassette, sub-family F (GCN20), member 3 [Source:MGI Symbol;Acc:MGI:1351656]
Uniprot Name
Gene GO
ATPase activity; nucleoside-triphosphatase activity; protein binding; cellular_component; nucleotide binding; defense response to virus; ATP binding; biological_process
Homolog in other species ABCF3
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000003234
Chromosome 16
Coordinate 20,559,998     (Assembly: GRCm38)    
Ref Base T
Codon Change Tct/Cct
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
Amino Acid Position 612
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01570
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 28 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
ABC transporter-like ABC_transporter-like IPR003439 ENSMUSP00000003319 Prosite_profiles 492
707 Description available Search pathways
ABC transporter-like ABC_transporter-like IPR003439 ENSMUSP00000003319 Pfam 532
639 Description available Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000003319 Superfamily 507
685 Description available Search pathways
AAA+ ATPase domain AAA+_ATPase IPR003593 ENSMUSP00000003319 Smart 517
684 Description available Search pathways

 Availability Details 
Availability Cryopreserved