|Institutional Source||Beutler Lab|
|Gene Name||CD4 antigen|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7394 (G1)|
|Chromosomal Location||124864692-124888221 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 124873041 bp|
|Amino Acid Change||Methionine to Leucine at position 104 (M104L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024044 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024044]|
|Predicted Effect||probably benign
AA Change: M104L
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: M104L
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (66/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit abnormal immune system morphology and physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd4||
(F):5'- ACACTCTGACCCACTTGTGG -3'
(R):5'- GCCTTCTCATCAGTTCAGAGTC -3'
(F):5'- GACCCACTTGTGGTCTGAAATATC -3'
(R):5'- CATCAGTTCAGAGTCCTTCATGAGGG -3'