|Institutional Source||Beutler Lab|
|Gene Name||SLAM family member 8|
|Synonyms||5830408F06Rik, Blame, SBBI42|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7802 (G1)|
|Chromosomal Location||172581758-172590568 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 172588110 bp|
|Amino Acid Change||Serine to Proline at position 54 (S54P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067527 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065679]|
|Predicted Effect||probably damaging
AA Change: S54P
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S54P
|Coding Region Coverage||
|Validation Efficiency||97% (35/36)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased Nox2 activity in macrophage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slamf8||
(F):5'- CCGTACACCTTGAGATACAGG -3'
(R):5'- ACTCAGCCGTTTGGTTTGC -3'
(F):5'- ATACAGGGTCTGGGTCCAG -3'
(R):5'- CCGTTTGGTTTGCCGGGAG -3'