Smarca2 - SNV Details



 Human Rare Diseases 
Intellectual deficit - sparse hair - brachydactyly

 Gene Information 
Gene Name Smarca2
Old Gene Names for Smarca2 Snf2l2 , 2610209l14rik
Gene Description SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Source:MGI Symbol;Acc:MGI:99603]
MGI phenotype Mice homozygous for a targeted mutation in this gene may exhibit infertility and a slightly increased body weight in some genetic backgrounds.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; hydrolase activity
acting on acid anhydrides; helicase activity; nervous system development; nucleosome assembly; SWI/SNF complex; DNA binding; RNA polymerase II transcription coactivator activity; intracellular membrane-bounded organelle; protein binding; transcription regulatory region DNA binding; hydrolase activity
acting on acid anhydrides
in phosphorus-containing anhydrides; negative regulation of cell proliferation; nucleus; aortic smooth muscle cell differentiation; positive regulation of transcription
DNA-dependent; npBAF complex; negative regulation of cell growth; intermediate filament cytoskeleton; regulation of transcription
DNA-dependent; nucleic acid binding; chromatin organization; ATP binding; nuclear chromatin; nBAF complex; WINAC complex
Homolog in other species SMARCA2
Omim http://omim.org/entry/600014
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024921
Chromosome 19
Coordinate 26,716,137     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 66
Allele Frequency
A:R0.65
G:V0.35
Amino Acid Position 1247
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02039
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0.36
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved