|Institutional Source||Beutler Lab|
|Gene Name||SLAM family member 6|
|Synonyms||Ly108, SF2000, KAL1, KAL1b, NTB-A|
|Is this an essential gene?||Probably non essential (E-score: 0.060)|
|Stock #||R1763 (G1)|
|Chromosomal Location||171917515-171953170 bp(+) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||T to C at 171942587 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000141448 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171330] [ENSMUST00000194561] [ENSMUST00000195656]|
AA Change: S331P
AA Change: S331P
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (85/87)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one null allele show no overt phenotype. Mice homozygous for another null allele show impaired IL-4 production by CD4+ T cells, reduced inflammatory response to L. mexicana infection, high susceptibility to S. typhimurium infection, and defective neutrophil bactericidal activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slamf6||
(F):5'- TTAATGTAGCCCTGCCTCACGC -3'
(R):5'- AAGCAATGCATCGCTATCCTCCTC -3'
(F):5'- TGCCTCACGCCATCAATAG -3'
(R):5'- ATATCCCAGAGGGCCTGTCTAAG -3'