Camta1 - SNV Details



 Human Rare Diseases 
Non progressive cerebellar ataxia with intellectual deficit

 Gene Information 
Gene Name Camta1
Old Gene Names for Camta1 2310058o09rik , Aw987475 , 1810059m14rik , Ai316882
Gene Description calmodulin binding transcription activator 1 [Source:MGI Symbol;Acc:MGI:2140230]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; cytoplasm; DNA binding; protein binding; nucleus; regulation of transcription
DNA-dependent; biological_process; molecular_function
Homolog in other species CAMTA1
Omim http://omim.org/entry/611501
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
LOW
MEDIAN(HIGHER IN DC.LC.SK)
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
LOW/MEDIAN(HIGH IN NS GROUP, NEURO2A, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN, SEPTUM.RESP.EPITH)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000014592
Chromosome 4
Coordinate 151,084,655     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 36
Allele Frequency
G:R0.58
A:V0.42
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02541
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved