|Institutional Source||Beutler Lab|
|Gene Name||histocompatibility 2, class II antigen A, beta 1|
|Synonyms||A beta, Abeta, Ia-2, IAb, Rmcs1, I-A, H-2Ab, I-Abeta, Ia2, H2-Ab|
|Is this an essential gene?||Probably non essential (E-score: 0.090)|
|Stock #||R6869 (G1)|
|Chromosomal Location||34263209-34269418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 34267563 bp|
|Amino Acid Change||Tyrosine to Histidine at position 199 (Y199H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041008 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040828]|
|Predicted Effect||probably damaging
AA Change: Y199H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y199H
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit depletion of mature CD4+ T cells, deficiency in cell-mediated immune responses, and increased susceptibility to viral infections. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in H2-Ab1||
(F):5'- TCTGGTCTGCTCAGTGACAG -3'
(R):5'- TCCTGATGCCCTGACTATGAGG -3'
(F):5'- GCTCAGTGACAGATTTCTACCCAG -3'
(R):5'- TCTCAGCTCAGTAGTGGAAGC -3'