Incidental Mutation 'R1993:Slamf6'
ID 223811
Institutional Source Beutler Lab
Gene Symbol Slamf6
Ensembl Gene ENSMUSG00000015314
Gene Name SLAM family member 6
Synonyms KAL1b, NTB-A, KAL1, Ly108, SF2000
MMRRC Submission 040004-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1993 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171745002-171776525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 171761776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 66 (I66F)
Ref Sequence ENSEMBL: ENSMUSP00000141448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171330] [ENSMUST00000194182] [ENSMUST00000194561] [ENSMUST00000195656]
AlphaFold Q9ET39
Predicted Effect possibly damaging
Transcript: ENSMUST00000171330
AA Change: I66F

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130610
Gene: ENSMUSG00000015314
AA Change: I66F

signal peptide 1 27 N/A INTRINSIC
low complexity region 28 37 N/A INTRINSIC
IG 39 142 1.49e-2 SMART
low complexity region 145 161 N/A INTRINSIC
Blast:IG_like 162 226 7e-16 BLAST
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193311
Predicted Effect probably benign
Transcript: ENSMUST00000194182
SMART Domains Protein: ENSMUSP00000142242
Gene: ENSMUSG00000015314

low complexity region 22 36 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000194561
AA Change: I66F

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141944
Gene: ENSMUSG00000015314
AA Change: I66F

signal peptide 1 27 N/A INTRINSIC
low complexity region 28 37 N/A INTRINSIC
IG 39 142 1.49e-2 SMART
low complexity region 145 161 N/A INTRINSIC
Blast:IG_like 162 226 5e-16 BLAST
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000195656
AA Change: I66F

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141448
Gene: ENSMUSG00000015314
AA Change: I66F

low complexity region 28 37 N/A INTRINSIC
IG 39 142 5.9e-5 SMART
low complexity region 145 161 N/A INTRINSIC
Blast:IG_like 162 226 8e-16 BLAST
transmembrane domain 240 262 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one null allele show no overt phenotype. Mice homozygous for another null allele show impaired IL-4 production by CD4+ T cells, reduced inflammatory response to L. mexicana infection, high susceptibility to S. typhimurium infection, and defective neutrophil bactericidal activity. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,871,322 (GRCm39) I292S possibly damaging Het
Abcc4 T C 14: 118,763,694 (GRCm39) N1047S probably benign Het
Abcc8 G T 7: 45,766,847 (GRCm39) probably null Het
Akap9 T A 5: 4,088,520 (GRCm39) probably null Het
Alox5 T A 6: 116,392,424 (GRCm39) I366F probably damaging Het
Amn A G 12: 111,242,526 (GRCm39) N447S probably damaging Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Asic1 G T 15: 99,569,765 (GRCm39) G29C probably damaging Het
Atxn7l1 A G 12: 33,395,976 (GRCm39) N235S probably benign Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Bod1l A G 5: 41,974,679 (GRCm39) S2212P probably damaging Het
Cacna1e T A 1: 154,353,563 (GRCm39) Q423L probably damaging Het
Calu T C 6: 29,366,974 (GRCm39) I62T possibly damaging Het
Cars2 A G 8: 11,564,515 (GRCm39) V75A probably benign Het
Catsperb T A 12: 101,569,026 (GRCm39) N899K possibly damaging Het
Ccdc50 T A 16: 27,228,089 (GRCm39) C86* probably null Het
Cdh5 G T 8: 104,864,447 (GRCm39) L469F probably damaging Het
Clrn3 A T 7: 135,115,848 (GRCm39) D167E probably benign Het
Csmd1 A T 8: 16,396,698 (GRCm39) C411S probably damaging Het
Dchs1 A T 7: 105,411,755 (GRCm39) S1454T probably benign Het
Ddx20 G A 3: 105,586,660 (GRCm39) Q562* probably null Het
Dgkg T G 16: 22,419,344 (GRCm39) Y52S probably damaging Het
Dhx58 T C 11: 100,594,316 (GRCm39) probably null Het
Dpp6 A T 5: 27,604,004 (GRCm39) I145L probably benign Het
Efna2 A T 10: 80,022,711 (GRCm39) Y85F possibly damaging Het
Eif3a C T 19: 60,769,954 (GRCm39) V127I probably benign Het
Exph5 A T 9: 53,284,935 (GRCm39) H672L possibly damaging Het
Fam131b T C 6: 42,297,818 (GRCm39) T112A possibly damaging Het
Fcgr1 A T 3: 96,193,184 (GRCm39) V271E probably damaging Het
Fgfr4 A G 13: 55,313,715 (GRCm39) D508G probably damaging Het
Fndc3b A G 3: 27,473,549 (GRCm39) M1172T probably benign Het
Fryl G T 5: 73,265,836 (GRCm39) T495K probably damaging Het
Garin5b A T 7: 4,761,017 (GRCm39) V565E probably damaging Het
Gm5134 A T 10: 75,802,227 (GRCm39) I93F probably damaging Het
Gpbar1 G A 1: 74,318,603 (GRCm39) G282D possibly damaging Het
Gria2 G A 3: 80,709,664 (GRCm39) L10F probably benign Het
Grm7 T C 6: 111,184,769 (GRCm39) Y367H probably benign Het
H1f9 T A 11: 94,858,858 (GRCm39) V51E probably damaging Het
Hivep1 G A 13: 42,310,969 (GRCm39) A1070T probably benign Het
Il33 A G 19: 29,934,304 (GRCm39) D155G possibly damaging Het
Kdm6b T C 11: 69,297,129 (GRCm39) S408G probably null Het
Kntc1 A G 5: 123,948,874 (GRCm39) probably null Het
Kntc1 G A 5: 123,897,162 (GRCm39) probably null Het
Ltbp2 T G 12: 84,855,220 (GRCm39) probably null Het
Mapk8ip3 G T 17: 25,133,562 (GRCm39) L83I probably damaging Het
Meltf C A 16: 31,711,440 (GRCm39) Y554* probably null Het
Mov10 A C 3: 104,706,735 (GRCm39) F725C probably damaging Het
Ms4a6d A C 19: 11,567,523 (GRCm39) L18R probably damaging Het
Naip2 T C 13: 100,298,515 (GRCm39) N507S probably benign Het
Nodal A G 10: 61,254,113 (GRCm39) Q12R probably benign Het
Npy6r T C 18: 44,409,575 (GRCm39) L332P probably damaging Het
Nrxn3 A G 12: 89,227,181 (GRCm39) K272R possibly damaging Het
Obox2 G T 7: 15,131,174 (GRCm39) K93N probably benign Het
Or10j27 C T 1: 172,958,418 (GRCm39) R122H possibly damaging Het
Or51a6 G T 7: 102,603,953 (GRCm39) P285Q probably damaging Het
Or5b112 A G 19: 13,319,178 (GRCm39) T19A possibly damaging Het
Or5w13 C T 2: 87,523,777 (GRCm39) V150M probably benign Het
Pcdh12 T A 18: 38,415,196 (GRCm39) D643V possibly damaging Het
Pcsk2 A G 2: 143,529,539 (GRCm39) D112G probably benign Het
Pms1 A G 1: 53,234,174 (GRCm39) S781P probably benign Het
Prtg A G 9: 72,752,178 (GRCm39) D188G probably benign Het
Psg21 A T 7: 18,388,695 (GRCm39) N132K probably benign Het
Psip1 A G 4: 83,400,769 (GRCm39) V25A probably damaging Het
Psmd13 T A 7: 140,478,107 (GRCm39) I319N probably damaging Het
Ptges2 A G 2: 32,290,104 (GRCm39) T173A probably benign Het
Ptprm G A 17: 67,054,155 (GRCm39) R975W probably damaging Het
Rdh1 A G 10: 127,601,214 (GRCm39) D254G probably benign Het
Rnf138 T G 18: 21,157,540 (GRCm39) N212K probably damaging Het
Serpine2 A G 1: 79,799,159 (GRCm39) S32P probably damaging Het
Serpini1 G T 3: 75,521,971 (GRCm39) W154L probably damaging Het
Sf3a1 C A 11: 4,129,177 (GRCm39) Q713K possibly damaging Het
Sgo2b A T 8: 64,379,867 (GRCm39) H988Q probably benign Het
Sin3a T C 9: 57,008,483 (GRCm39) F468L probably damaging Het
Slc22a28 A T 19: 8,094,488 (GRCm39) C178S possibly damaging Het
Slc35a1 A C 4: 34,675,181 (GRCm39) V119G probably damaging Het
Slc39a12 A T 2: 14,439,030 (GRCm39) H428L probably damaging Het
Speer2 A G 16: 69,654,965 (GRCm39) S167P probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Spsb2 T C 6: 124,786,329 (GRCm39) probably null Het
Stam2 A T 2: 52,593,168 (GRCm39) Y341* probably null Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Svep1 A G 4: 58,064,170 (GRCm39) probably null Het
Syt15 A T 14: 33,944,969 (GRCm39) Q172L probably benign Het
T G A 17: 8,660,634 (GRCm39) S415N probably benign Het
Tep1 A G 14: 51,061,641 (GRCm39) F2625S possibly damaging Het
Tex14 T C 11: 87,427,581 (GRCm39) V11A possibly damaging Het
Tiam2 A T 17: 3,465,401 (GRCm39) R377* probably null Het
Tirap A G 9: 35,102,312 (GRCm39) probably null Het
Tm4sf20 T C 1: 82,737,938 (GRCm39) T118A probably benign Het
Trank1 A T 9: 111,207,900 (GRCm39) Q1715L probably benign Het
Trpm2 C T 10: 77,783,823 (GRCm39) V217M probably damaging Het
Ubap1l G A 9: 65,279,078 (GRCm39) E126K possibly damaging Het
Urgcp G T 11: 5,666,526 (GRCm39) P604Q probably damaging Het
Vmn1r63 A G 7: 5,806,254 (GRCm39) V126A probably benign Het
Vmn2r90 T C 17: 17,933,525 (GRCm39) C362R probably damaging Het
Vmn2r96 A G 17: 18,804,138 (GRCm39) I271V probably damaging Het
Vps13a A T 19: 16,699,822 (GRCm39) I740K probably benign Het
Vps13c A G 9: 67,883,138 (GRCm39) T3562A probably damaging Het
Wdr91 T A 6: 34,869,297 (GRCm39) H409L probably damaging Het
Wnt7a T A 6: 91,342,938 (GRCm39) T315S possibly damaging Het
Zfp616 A G 11: 73,975,795 (GRCm39) H688R probably benign Het
Zfp763 A T 17: 33,237,413 (GRCm39) H577Q probably damaging Het
Zfp808 G A 13: 62,320,721 (GRCm39) S650N probably benign Het
Zfp977 A T 7: 42,229,409 (GRCm39) M372K probably benign Het
Other mutations in Slamf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Slamf6 APN 1 171,745,347 (GRCm39) missense probably null 0.27
IGL01011:Slamf6 APN 1 171,765,666 (GRCm39) missense probably benign 0.19
P0016:Slamf6 UTSW 1 171,764,068 (GRCm39) missense probably damaging 0.97
R1565:Slamf6 UTSW 1 171,761,975 (GRCm39) missense possibly damaging 0.53
R1763:Slamf6 UTSW 1 171,770,154 (GRCm39) intron probably benign
R1774:Slamf6 UTSW 1 171,770,154 (GRCm39) intron probably benign
R2155:Slamf6 UTSW 1 171,765,575 (GRCm39) missense probably damaging 0.99
R2328:Slamf6 UTSW 1 171,761,818 (GRCm39) missense probably benign 0.00
R4693:Slamf6 UTSW 1 171,761,680 (GRCm39) nonsense probably null
R5062:Slamf6 UTSW 1 171,764,100 (GRCm39) missense possibly damaging 0.93
R5172:Slamf6 UTSW 1 171,764,147 (GRCm39) missense probably benign 0.01
R5249:Slamf6 UTSW 1 171,764,249 (GRCm39) missense probably damaging 1.00
R5328:Slamf6 UTSW 1 171,765,662 (GRCm39) missense probably benign 0.04
R5771:Slamf6 UTSW 1 171,745,341 (GRCm39) missense probably damaging 0.98
R6339:Slamf6 UTSW 1 171,775,615 (GRCm39) missense probably null 1.00
R6960:Slamf6 UTSW 1 171,745,320 (GRCm39) missense probably damaging 0.98
R7176:Slamf6 UTSW 1 171,761,858 (GRCm39) missense probably benign 0.13
R7400:Slamf6 UTSW 1 171,747,360 (GRCm39) missense unknown
R7535:Slamf6 UTSW 1 171,747,325 (GRCm39) missense unknown
R7629:Slamf6 UTSW 1 171,764,191 (GRCm39) missense probably damaging 0.97
R8202:Slamf6 UTSW 1 171,761,786 (GRCm39) missense probably benign 0.01
R8934:Slamf6 UTSW 1 171,745,338 (GRCm39) missense possibly damaging 0.76
R9225:Slamf6 UTSW 1 171,764,270 (GRCm39) missense probably benign 0.25
R9338:Slamf6 UTSW 1 171,747,157 (GRCm39) intron probably benign
R9581:Slamf6 UTSW 1 171,761,897 (GRCm39) missense
RF025:Slamf6 UTSW 1 171,769,149 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25