Dmbt1 - SNV Details



 Gene Information 
Gene Name Dmbt1
Old Gene Names for Dmbt1 Crpd
Gene Description deleted in malignant brain tumors 1 [Source:MGI Symbol;Acc:MGI:106210]
MGI phenotype Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis.
Uniprot Name
CCDS Name
Gene GO
inner cell mass cell proliferation; membrane; positive regulation of epithelial cell differentiation; cytoplasm; proteinaceous extracellular matrix; intracellular; blastocyst development; protein binding; extracellular vesicular exosome; receptor-mediated endocytosis; phagocytic vesicle membrane; extracellular space; scavenger receptor activity
Homolog in other species DMBT1
Omim http://omim.org/entry/601969
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, KIDNEY, LIVER, SALIVARYGLAND, THYROID, GI GROUP, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN,SEPTUM..RESP.EPITH, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047517
Chromosome 7
Coordinate 131,074,410     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.56
A:V0.44
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL02726
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Line Propagating