Incidental Mutation 'IGL03126:Slamf8'
ID 410144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slamf8
Ensembl Gene ENSMUSG00000053318
Gene Name SLAM family member 8
Synonyms 5830408F06Rik, SBBI42, Blame
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03126
Quality Score
Status
Chromosome 1
Chromosomal Location 172409325-172418135 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172411736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 253 (H253R)
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: H253R

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

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
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: 119,617,563 (GRCm39) N562S probably benign Het
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acsm1 A T 7: 119,232,403 (GRCm39) Q100L possibly damaging Het
Akr1c21 T C 13: 4,627,457 (GRCm39) Y184H possibly damaging Het
Anks3 T C 16: 4,775,891 (GRCm39) T104A probably damaging Het
Bcl2l2 A G 14: 55,122,224 (GRCm39) Y129C probably damaging Het
Cenpf T A 1: 189,391,207 (GRCm39) K875I probably damaging Het
Cntnap1 T C 11: 101,067,127 (GRCm39) V15A probably benign Het
Dnaaf9 A T 2: 130,633,915 (GRCm39) probably null Het
Elmo3 C A 8: 106,033,013 (GRCm39) R66S probably damaging Het
Elp1 A G 4: 56,779,717 (GRCm39) S565P probably benign Het
Epn1 C A 7: 5,098,684 (GRCm39) A370E probably benign Het
Esrrg T C 1: 187,730,184 (GRCm39) probably benign Het
Fgd5 T G 6: 92,042,145 (GRCm39) L1034R probably damaging Het
Fpgs A G 2: 32,573,135 (GRCm39) V567A possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
H3c3 T C 13: 23,929,425 (GRCm39) K19R possibly damaging Het
Hsd17b14 T C 7: 45,205,503 (GRCm39) F38S possibly damaging Het
Larp1 T C 11: 57,941,703 (GRCm39) V712A possibly damaging Het
Mep1b T C 18: 21,221,617 (GRCm39) F189S probably damaging Het
Mill1 T C 7: 17,989,832 (GRCm39) V38A probably benign Het
Niban2 C T 2: 32,766,398 (GRCm39) R13W possibly damaging Het
Npy4r T C 14: 33,868,290 (GRCm39) I333V probably benign Het
Numa1 G T 7: 101,649,874 (GRCm39) E1202* probably null Het
Or3a1b C T 11: 74,012,610 (GRCm39) A165V probably benign Het
Or6k6 A G 1: 173,945,276 (GRCm39) I102T probably benign Het
Oxr1 A T 15: 41,683,645 (GRCm39) Q356L possibly damaging Het
Prdx2 T C 8: 85,698,198 (GRCm39) F130L probably damaging Het
Rasa1 A T 13: 85,404,515 (GRCm39) S248R possibly damaging Het
Rgs19 A G 2: 181,333,114 (GRCm39) S49P probably benign Het
Rinl A G 7: 28,495,075 (GRCm39) probably benign Het
Serpinb11 T C 1: 107,307,654 (GRCm39) F362L probably damaging Het
Tet3 C A 6: 83,353,769 (GRCm39) R829L probably damaging Het
Trappc8 A G 18: 20,996,652 (GRCm39) L420P probably damaging Het
Ube2u A T 4: 100,407,199 (GRCm39) *353Y probably null Het
Wbp1l A C 19: 46,632,838 (GRCm39) D46A probably damaging Het
Zbtb21 A G 16: 97,752,945 (GRCm39) V474A probably 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
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
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
Posted On 2016-08-02