Ciita - SNV Details



 Human Rare Diseases 
Immunodeficiency by defective expression of HLA class 2

 Gene Information 
Gene Name Ciita
Old Gene Names for Ciita C2ta , Eg669998 , Gm9475
Gene Description class II transactivator [Source:MGI Symbol;Acc:MGI:108445]
MGI phenotype Homozygous targeted mutants are immunologically abnormal with extremely little MHC class II expression, greatly reduced serum IgG, and impaired T-dependent antigen responses.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; protein C-terminus binding; protein binding; transcription regulatory region DNA binding; nucleus; positive regulation of transcription
DNA-dependent; response to interferon-gamma; positive regulation of MHC class I biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; protein complex binding; response to antibiotic; activating transcription factor binding; ATP binding
Homolog in other species CIITA
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022504
Chromosome 16
Coordinate 10,512,015     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 54
Allele Frequency
T:R0.35
A:V0.65
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02557
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved