Incidental Mutation 'R7222:Slamf8'
ID 561861
Institutional Source Beutler Lab
Gene Symbol Slamf8
Ensembl Gene ENSMUSG00000053318
Gene Name SLAM family member 8
Synonyms 5830408F06Rik, SBBI42, Blame
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7222 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 172409325-172418135 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 172411775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 240 (T240I)
Ref Sequence ENSEMBL: ENSMUSP00000067527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065679]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000065679
AA Change: T240I

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067527
Gene: ENSMUSG00000053318
AA Change: T240I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L probably benign 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
R6743:Slamf8 UTSW 1 172,417,965 (GRCm39) critical splice donor site probably null
R6974:Slamf8 UTSW 1 172,415,590 (GRCm39) missense probably damaging 1.00
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'- TGTCCAGTCTGGTAGGAGAG -3'
(R):5'- GTGGCCTTTACCTGCATTGC -3'

Sequencing Primer
(F):5'- CAGTCTGGTAGGAGAGGGCTG -3'
(R):5'- CAATCCTGTCAGCTGGGATATGAC -3'
Posted On 2019-06-26