Dlg5 - SNV Details



 Gene Information 
Gene Name Dlg5
Old Gene Names for Dlg5 4933429d20rik , T25557
Gene Description discs, large homolog 5 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918478]
MGI phenotype Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology.
Uniprot Name
CCDS Name
Gene GO
beta-catenin binding; intracellular; cell-cell adherens junction; protein binding; biological_process; regulation of apoptotic process; cytoskeletal protein binding
Homolog in other species DLG5
Omim http://omim.org/entry/604090
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021782
Chromosome 14
Coordinate 24,144,346     (Assembly: GRCm38)    
Ref Base A
Codon Change cTc/cGc
Var Base C
Zygosity Heterozygous
Read Depth 50
Allele Frequency
A:R0.44
C:V0.56
Amino Acid Position 1709
Amino Acid Change L->R (Leucine -> Arginine)
Sample ID IGL02103
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0.03
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved