|Institutional Source||Beutler Lab|
|Gene Name||CD53 antigen|
|Is this an essential gene?||Probably non essential (E-score: 0.160)|
|Stock #||R6519 (G1)|
|Chromosomal Location||106759921-106790149 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 106762145 bp|
|Amino Acid Change||Histidine to Leucine at position 179 (H179L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035781 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038845]|
|Predicted Effect||probably benign
AA Change: H179L
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: H179L
|Meta Mutation Damage Score||0.1029|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd53||
(F):5'- TCATTTGTTCCTTGGCTAGAGTAACTC -3'
(R):5'- AGGTAAGAGTTCTGTGTTAGGTACAAG -3'
(F):5'- ATAGGGCTCCTGGGATTA -3'
(R):5'- CTGGAGAAATGTCACTGACTT -3'