Incidental Mutation 'R7802:Slamf8'
ID 600556
Institutional Source Beutler Lab
Gene Symbol Slamf8
Ensembl Gene ENSMUSG00000053318
Gene Name SLAM family member 8
Synonyms 5830408F06Rik, SBBI42, Blame
MMRRC Submission 045857-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7802 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 172409325-172418135 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172415677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 54 (S54P)
Ref Sequence ENSEMBL: ENSMUSP00000067527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065679]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065679
AA Change: S54P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067527
Gene: ENSMUSG00000053318
AA Change: S54P

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 97% (35/36)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,650,438 (GRCm39) V12A probably benign Het
Bahcc1 T C 11: 120,165,518 (GRCm39) F983S probably benign Het
Cecr2 T C 6: 120,720,808 (GRCm39) I312T probably benign Het
Col6a2 A T 10: 76,439,632 (GRCm39) W711R probably damaging Het
Epb41l4a A G 18: 33,961,227 (GRCm39) F436L probably benign Het
Epha1 C T 6: 42,338,875 (GRCm39) R641Q possibly damaging Het
Ercc6 C A 14: 32,239,260 (GRCm39) A116E probably damaging Het
Ermard A G 17: 15,281,423 (GRCm39) E611G probably benign Het
Galnt16 T G 12: 80,628,021 (GRCm39) I239S probably damaging Het
Gna15 T C 10: 81,350,175 (GRCm39) R76G probably benign Het
Herc2 A G 7: 55,813,838 (GRCm39) Y2657C probably damaging Het
Mapkapk2 T C 1: 130,984,639 (GRCm39) I238V possibly damaging Het
Med13l T C 5: 118,866,655 (GRCm39) S570P probably benign Het
Mrap C T 16: 90,546,247 (GRCm39) T112M probably benign Het
Nadsyn1 T C 7: 143,359,763 (GRCm39) Q403R probably benign Het
Nostrin T C 2: 69,019,356 (GRCm39) V467A probably benign Het
Palb2 A T 7: 121,710,119 (GRCm39) probably null Het
Parp16 A G 9: 65,137,179 (GRCm39) N135S probably benign Het
Pcnt A T 10: 76,211,137 (GRCm39) probably null Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Psmc5 T C 11: 106,152,538 (GRCm39) probably null Het
Rsf1 G T 7: 97,310,979 (GRCm39) V570F Het
Rundc3a A G 11: 102,290,835 (GRCm39) E306G probably benign Het
Serpinb6b C T 13: 33,155,579 (GRCm39) Het
Setx A G 2: 29,037,033 (GRCm39) T1173A probably benign Het
Slc5a2 A C 7: 127,870,970 (GRCm39) D570A possibly damaging Het
Slco5a1 T A 1: 13,060,700 (GRCm39) Q7L possibly damaging Het
Stt3b G T 9: 115,105,949 (GRCm39) S175R probably damaging Het
Taar6 T A 10: 23,861,151 (GRCm39) I132F probably benign Het
Tenm3 A G 8: 48,689,500 (GRCm39) V2029A probably damaging Het
Tgm4 A G 9: 122,880,401 (GRCm39) probably benign Het
Tmt1a A T 15: 100,203,182 (GRCm39) N152I possibly damaging Het
Togaram1 T A 12: 65,013,758 (GRCm39) C336* probably null Het
Ttn G A 2: 76,768,015 (GRCm39) T3028M unknown Het
Vmn2r25 A T 6: 123,828,791 (GRCm39) I161N possibly damaging Het
Vwf T C 6: 125,643,640 (GRCm39) C2394R 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
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
R9748:Slamf8 UTSW 1 172,411,800 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CCGTACACCTTGAGATACAGG -3'
(R):5'- ACTCAGCCGTTTGGTTTGC -3'

Sequencing Primer
(F):5'- ATACAGGGTCTGGGTCCAG -3'
(R):5'- CCGTTTGGTTTGCCGGGAG -3'
Posted On 2019-11-26