Cdc42bpg - SNV Details



 Gene Information 
Gene Name Cdc42bpg
Old Gene Names for Cdc42bpg Bc046418
Gene Description CDC42 binding protein kinase gamma (DMPK-like) [Source:MGI Symbol;Acc:MGI:2652845]
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; protein kinase activity; cell leading edge; actin cytoskeleton reorganization; transferase activity
transferring phosphorus-containing groups; protein binding; magnesium ion binding; protein phosphorylation; small GTPase regulator activity; protein tyrosine kinase activity; ATP binding; phospholipid binding; protein serine/threonine kinase activity; centrosome
Homolog in other species CDC42BPG
Omim http://omim.org/entry/613991
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024769
Chromosome 19
Coordinate 6,311,368     (Assembly: GRCm38)    
Ref Base C
Codon Change gCc/gTc
Var Base T
Zygosity Heterozygous
Read Depth 63
Allele Frequency
C:R0.52
T:V0.48
Amino Acid Position 308
Amino Acid Change A->V (Alanine -> Valine)
Sample ID IGL01930
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

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

 Protein domains 
ENSMUSP00000025681:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Protein kinase-like domain Kinase-like_dom IPR011009 ENSMUSP00000025681 Superfamily 66
431 Description available Search pathways

 Availability Details 
Availability Cryopreserved