Incidental Mutation 'IGL03126:Slamf8'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slamf8
Ensembl Gene ENSMUSG00000053318
Gene NameSLAM family member 8
Synonyms5830408F06Rik, Blame, SBBI42
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03126
Quality Score
Chromosomal Location172581758-172590568 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 172584169 bp
Amino Acid Change Histidine to Arginine at position 253 (H253R)
Ref Sequence ENSEMBL: ENSMUSP00000067527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065679]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065679
AA Change: H253R

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067527
Gene: ENSMUSG00000053318
AA Change: H253R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193843
Coding Region Coverage
Validation Efficiency
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
4833420G17Rik A G 13: 119,481,027 N562S probably benign Het
4930402H24Rik A T 2: 130,791,995 probably null Het
Abi1 A G 2: 22,953,467 V316A probably benign Het
Acsm1 A T 7: 119,633,180 Q100L possibly damaging Het
Akr1c21 T C 13: 4,577,458 Y184H possibly damaging Het
Anks3 T C 16: 4,958,027 T104A probably damaging Het
Bcl2l2 A G 14: 54,884,767 Y129C probably damaging Het
Cenpf T A 1: 189,659,010 K875I probably damaging Het
Cntnap1 T C 11: 101,176,301 V15A probably benign Het
Elmo3 C A 8: 105,306,381 R66S probably damaging Het
Epn1 C A 7: 5,095,685 A370E probably benign Het
Esrrg T C 1: 187,997,987 probably benign Het
Fam129b C T 2: 32,876,386 R13W possibly damaging Het
Fgd5 T G 6: 92,065,164 L1034R probably damaging Het
Fpgs A G 2: 32,683,123 V567A possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Hist1h3c T C 13: 23,745,442 K19R possibly damaging Het
Hsd17b14 T C 7: 45,556,079 F38S possibly damaging Het
Ikbkap A G 4: 56,779,717 S565P probably benign Het
Larp1 T C 11: 58,050,877 V712A possibly damaging Het
Mep1b T C 18: 21,088,560 F189S probably damaging Het
Mill1 T C 7: 18,255,907 V38A probably benign Het
Npy4r T C 14: 34,146,333 I333V probably benign Het
Numa1 G T 7: 102,000,667 E1202* probably null Het
Olfr231 A G 1: 174,117,710 I102T probably benign Het
Olfr401 C T 11: 74,121,784 A165V probably benign Het
Oxr1 A T 15: 41,820,249 Q356L possibly damaging Het
Prdx2 T C 8: 84,971,569 F130L probably damaging Het
Rasa1 A T 13: 85,256,396 S248R possibly damaging Het
Rgs19 A G 2: 181,691,321 S49P probably benign Het
Rinl A G 7: 28,795,650 probably benign Het
Serpinb11 T C 1: 107,379,924 F362L probably damaging Het
Tet3 C A 6: 83,376,787 R829L probably damaging Het
Trappc8 A G 18: 20,863,595 L420P probably damaging Het
Ube2u A T 4: 100,550,002 *353Y probably null Het
Wbp1l A C 19: 46,644,399 D46A probably damaging Het
Zbtb21 A G 16: 97,951,745 V474A probably damaging Het
Other mutations in Slamf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Slamf8 APN 1 172582482 missense probably damaging 1.00
IGL02792:Slamf8 APN 1 172588130 missense probably damaging 1.00
R1635:Slamf8 UTSW 1 172584619 missense probably damaging 1.00
R1791:Slamf8 UTSW 1 172584520 nonsense probably null
R1792:Slamf8 UTSW 1 172587959 missense possibly damaging 0.71
R4785:Slamf8 UTSW 1 172584214 missense probably damaging 1.00
R6743:Slamf8 UTSW 1 172590398 critical splice donor site probably null
R6974:Slamf8 UTSW 1 172588023 missense probably damaging 1.00
R7222:Slamf8 UTSW 1 172584208 missense possibly damaging 0.73
Posted On2016-08-02