Cul7 - SNV Details



 Human Rare Diseases 
3M syndrome

 Gene Information 
Gene Name Cul7
Old Gene Names for Cul7 C230011p08rik , Aa409809 , 2510004l20rik
Gene Description cullin 7 [Source:MGI Symbol;Acc:MGI:1913765]
MGI phenotype During late gestation, homozygous null fetuses display reduced growth associated with abnormal placental development and hemorrhaging due to vascular defects. Mutant mice are born but die shortly after birth, succumbing to respiratory distress.
Uniprot Name
CCDS Name
Gene GO
perinuclear region of cytoplasm; apoptotic process; cytoplasm; regulation of mitosis; placenta development; ubiquitin protein ligase binding; vasculogenesis; intracellular; Golgi organization; positive regulation of dendrite morphogenesis; Cul7-RING ubiquitin ligase complex; ubiquitin-dependent protein catabolic process; protein binding; 3M complex; protein ubiquitination; binding; nucleus; regulation of endothelial cell differentiation; cullin-RING ubiquitin ligase complex; epithelial to mesenchymal transition; microtubule cytoskeleton organization; regulation of apoptotic process; mitotic cytokinesis; Golgi apparatus; centrosome
Homolog in other species CUL7
Omim http://omim.org/entry/609577
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Gnf Expression
HIGH
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038545
Chromosome 17
Coordinate 46,652,508     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 11
Allele Frequency
A:R0.64
G:V0.36
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL00557
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved