Dtl - SNV Details



 Gene Information 
Gene Name Dtl
Old Gene Names for Dtl 5730564g15rik , 2810047l02rik
Gene Description denticleless homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1924093]
MGI phenotype Mutation of this gene results in very early embryonic lethality around or before E1.5. In vitro siRNA knockdown experiments show that the gene is essential cell survival and cell cycle progression to allow proper blastocyst formation.
Uniprot Name
CCDS Name
Gene GO
Cul4A-RING ubiquitin ligase complex; regulation of cell cycle; protein polyubiquitination; DNA replication; G2/M transition DNA damage checkpoint; ubiquitin-protein ligase activity; ubiquitin-dependent protein catabolic process; protein binding; protein monoubiquitination; nucleus; translesion synthesis; Cul4B-RING ubiquitin ligase complex; response to DNA damage stimulus; response to UV; centrosome; nuclear membrane
Homolog in other species DTL
Omim http://omim.org/entry/610617
Immgen Expression
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)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037474
Chromosome 1
Coordinate 191,568,314     (Assembly: GRCm38)    
Ref Base A
Codon Change gTa/gCa
Var Base G
Zygosity Heterozygous
Read Depth 124
Allele Frequency
A:R0.56
G:V0.44
Amino Acid Position 146
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02217
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.09
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved