|Institutional Source||Beutler Lab|
|Gene Name||class II transactivator|
|Is this an essential gene?||Probably non essential (E-score: 0.141)|
|Stock #||R8314 (G1)|
|Chromosomal Location||10480059-10528418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 10510988 bp|
|Amino Acid Change||Arginine to Tryptophan at position 379 (R379W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023147 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023147] [ENSMUST00000184863]|
|Predicted Effect||probably damaging
AA Change: R379W
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: R379W
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the NOD-like receptor protein family. This protein acts as a transcriptional coactivator and component of the enhanceosome complex to stimulate transcription of MHC class II genes in the adaptive immune response. This protein may also regulate the transcription of MHC class I genes. Mutations in the human gene have been linked to a rare immunodeficiency, bare lymphocyte syndrome, and homozygous knockout mice exhibit many features of this disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous targeted mutants are immunologically abnormal with extremely little MHC class II expression, greatly reduced serum IgG, and impaired T-dependent antigen responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ciita||
(F):5'- ATTCCAGCACTCCCTACAGG -3'
(R):5'- TCACGATATAATCAAGGACCTCG -3'
(F):5'- TACAGGACAAATACAAGGCATTGC -3'
(R):5'- TCAAGGACCTCGTCATCCATGG -3'