Smad6 - SNV Details



 Gene Information 
Gene Name Smad6
Old Gene Names for Smad6 Madh6
Gene Description SMAD family member 6 [Source:MGI Symbol;Acc:MGI:1336883]
MGI phenotype Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality. Survivors develop aortic ossification and hypertension as adults.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transforming growth factor beta receptor signaling pathway; response to estrogen stimulus; chromatin binding; transcription
DNA-dependent; coronary vasculature morphogenesis; I-SMAD binding; negative regulation of apoptotic process; immune response; type I transforming growth factor beta receptor binding; ubiquitin protein ligase binding; intracellular; cardiac vascular smooth muscle cell development; negative regulation of BMP signaling pathway; sequence-specific DNA binding transcription factor activity; transcription factor complex; transforming growth factor beta receptor
inhibitory cytoplasmic mediator activity; protein binding; transcription regulatory region DNA binding; transforming growth factor beta receptor signaling pathway; nucleus; negative regulation of vasodilation; response to laminar fluid shear stress; type I activin receptor binding; positive regulation of S phase of mitotic cell cycle; co-SMAD binding; regulation of transcription
DNA-dependent; zygotic specification of dorsal/ventral axis; R-SMAD binding; negative regulation of SMAD protein complex assembly; positive regulation of vasoconstriction; cell-substrate adhesion; ureteric bud development; negative regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
Homolog in other species SMAD6
Omim http://omim.org/entry/602931
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000036867
Chromosome 9
Coordinate 63,953,518     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
G:R0.46
A:V0.54
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02419
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved