Incidental Mutation 'R6743:Slamf8'
ID 532726
Institutional Source Beutler Lab
Gene Symbol Slamf8
Ensembl Gene ENSMUSG00000053318
Gene Name SLAM family member 8
Synonyms 5830408F06Rik, SBBI42, Blame
MMRRC Submission 044860-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6743 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 172409325-172418135 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 172417965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000067527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065679]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000065679
SMART Domains Protein: ENSMUSP00000067527
Gene: ENSMUSG00000053318

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:IG 28 120 7e-57 BLAST
Blast:IG_like 136 215 3e-35 BLAST
SCOP:d1iray2 143 213 3e-4 SMART
transmembrane domain 234 256 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (39/39)
MGI Phenotype 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
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,327,321 (GRCm39) R339C possibly damaging Het
Adamts6 G A 13: 104,565,436 (GRCm39) G721R probably damaging Het
Adnp2 A G 18: 80,171,274 (GRCm39) V1045A probably benign Het
Agbl3 T C 6: 34,823,888 (GRCm39) I856T probably benign Het
Anapc1 T A 2: 128,526,454 (GRCm39) K115* probably null Het
Arc A G 15: 74,543,636 (GRCm39) S196P probably benign Het
Atp10a T C 7: 58,447,562 (GRCm39) I768T possibly damaging Het
Blk C T 14: 63,622,375 (GRCm39) R55H probably benign Het
Ccdc158 T C 5: 92,810,005 (GRCm39) S168G probably benign Het
Cda G T 4: 138,066,253 (GRCm39) T128K probably benign Het
Celsr1 T A 15: 85,791,799 (GRCm39) T2601S probably damaging Het
Dmxl1 T C 18: 50,013,847 (GRCm39) V1545A possibly damaging Het
Dst T A 1: 34,309,971 (GRCm39) N6264K probably damaging Het
Ednra T C 8: 78,401,718 (GRCm39) S191G probably damaging Het
Elk3 A T 10: 93,100,912 (GRCm39) S280T possibly damaging Het
Etnk1 A G 6: 143,126,343 (GRCm39) I63V possibly damaging Het
Fscb A G 12: 64,518,347 (GRCm39) S1040P unknown Het
Gm14295 T G 2: 176,502,420 (GRCm39) C637G probably damaging Het
Gm5114 T C 7: 39,057,997 (GRCm39) T541A probably benign Het
Man2c1 T C 9: 57,042,849 (GRCm39) F240L probably benign Het
Map2 A T 1: 66,454,766 (GRCm39) I1219L probably benign Het
Map3k13 A G 16: 21,711,173 (GRCm39) Y152C probably damaging Het
Morc1 G A 16: 48,322,683 (GRCm39) A327T probably damaging Het
Myo3a A T 2: 22,366,475 (GRCm39) Y553F probably benign Het
Myo9b T A 8: 71,804,803 (GRCm39) probably null Het
Or14j1 A C 17: 38,146,694 (GRCm39) D268A probably damaging Het
Or5b3 C T 19: 13,387,957 (GRCm39) T8I probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pde6a T A 18: 61,397,057 (GRCm39) F634L possibly damaging Het
Pkd1l2 C A 8: 117,757,370 (GRCm39) C1556F probably damaging Het
Prdm5 G A 6: 65,860,635 (GRCm39) V440I probably damaging Het
Rasa2 T C 9: 96,493,493 (GRCm39) T64A probably damaging Het
Sec24b A T 3: 129,834,881 (GRCm39) Y106N probably damaging Het
Sfswap C T 5: 129,627,883 (GRCm39) Q689* probably null Het
Tektl1 G A 10: 78,588,726 (GRCm39) T28M probably benign Het
Tmt1a3 A G 15: 100,233,123 (GRCm39) K105E probably benign Het
Tsr1 T C 11: 74,799,177 (GRCm39) V786A probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zmynd10 T C 9: 107,425,079 (GRCm39) I58T possibly damaging Het
Other mutations in Slamf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Slamf8 APN 1 172,410,049 (GRCm39) missense probably damaging 1.00
IGL02792:Slamf8 APN 1 172,415,697 (GRCm39) missense probably damaging 1.00
IGL03126:Slamf8 APN 1 172,411,736 (GRCm39) missense possibly damaging 0.73
R1635:Slamf8 UTSW 1 172,412,186 (GRCm39) missense probably damaging 1.00
R1791:Slamf8 UTSW 1 172,412,087 (GRCm39) nonsense probably null
R1792:Slamf8 UTSW 1 172,415,526 (GRCm39) missense possibly damaging 0.71
R4785:Slamf8 UTSW 1 172,411,781 (GRCm39) missense probably damaging 1.00
R6974:Slamf8 UTSW 1 172,415,590 (GRCm39) missense probably damaging 1.00
R7222:Slamf8 UTSW 1 172,411,775 (GRCm39) missense possibly damaging 0.73
R7663:Slamf8 UTSW 1 172,415,605 (GRCm39) missense possibly damaging 0.92
R7802:Slamf8 UTSW 1 172,415,677 (GRCm39) missense probably damaging 0.99
R9748:Slamf8 UTSW 1 172,411,800 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- GATACAGATGCCACTGGTAACG -3'
(R):5'- AACTTCCACTTTACCCGGGATG -3'

Sequencing Primer
(F):5'- GGTAACGCTACCCTATTTTGTCTAAG -3'
(R):5'- GGGATGCTTTCGCTTTCAAGACATC -3'
Posted On 2018-08-29