Smarce1 - SNV Details




Date removed: 22/11/2013
 Human Rare Diseases 
Familial multiple meningioma

 Gene Information 
Gene Name Smarce1
Old Gene Names for Smarce1 2810417b20rik , 5830412h02rik , 9030408n19rik
Gene Description SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:MGI Symbol;Acc:MGI:1927347]
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; nervous system development; SWI/SNF complex; DNA binding; protein binding; transcriptional repressor complex; nucleus; N-acetyltransferase activity; npBAF complex; ligand-dependent nuclear receptor binding; nucleosome disassembly; nBAF complex; protein N-terminus binding; chromatin remodeling
Homolog in other species SMARCE1
Omim http://omim.org/entry/603111
Immgen Expression
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
Gnf Expression
LOW
MEDIAN
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037935
Chromosome 11
Coordinate 99,210,187     (Assembly: GRCm38)    
Ref Base C
Codon Change gGg/gAg
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
C:R0.39
T:V0.61
Amino Acid Position 373
Amino Acid Change G->E (Glycine -> Glutamic acid)
Sample ID IGL01448
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.62
Polyphen Prediction Possibly damaging
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved