|Institutional Source||Beutler Lab|
|Gene Name||CD1d1 antigen|
|Synonyms||CD1.1, Cd1d, Cd1a, Ly-38|
|Is this an essential gene?||Probably non essential (E-score: 0.096)|
|Stock #||R7315 (G1)|
|Chromosomal Location||86995834-86999441 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 86998113 bp|
|Amino Acid Change||Arginine to Histidine at position 191 (R191H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029717 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029717] [ENSMUST00000063869]|
|Predicted Effect||possibly damaging
AA Change: R191H
PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: R191H
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for targeted null mutations lack natural killer T cells, and mutant splenocytes fail to produce interleukin 4 (IL4). [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd1d1||
(F):5'- AACCCAAGAGTGGCTGTCAG -3'
(R):5'- CTGCGGGCTGTGAAATGTAC -3'
(F):5'- TGGCTGTCAGTGAGAAAATAAACCC -3'
(R):5'- GAAATGTACCCTGGGAATGCTTC -3'