Diap3 - SNV Details



 Gene Information 
Gene Name Diap3
Old Gene Names for Diap3 4930417p13rik
Gene Description diaphanous homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1927222]
Uniprot Name
CCDS Name
Gene GO
actin cytoskeleton organization; spermatogenesis; cytoplasm; cellular component organization; binding; nucleus; cytosol; Rho GTPase binding; actin binding
Homolog in other species DIAPH3
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022021
Chromosome 14
Coordinate 87,073,302     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 60
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL03191
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved