Incidental Mutation 'R1763:Slamf6'
ID 193159
Institutional Source Beutler Lab
Gene Symbol Slamf6
Ensembl Gene ENSMUSG00000015314
Gene Name SLAM family member 6
Synonyms Ly108, SF2000, KAL1, KAL1b, NTB-A
MMRRC Submission 039795-MU
Accession Numbers

NCBI RefSeq: NM_030710.2; MGI:1353620

Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171917515-171953170 bp(+) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) T to C at 171942587 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171330] [ENSMUST00000194561] [ENSMUST00000195656]
AlphaFold Q9ET39
Predicted Effect unknown
Transcript: ENSMUST00000171330
AA Change: S331P
SMART Domains Protein: ENSMUSP00000130610
Gene: ENSMUSG00000015314
AA Change: S331P

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 probably benign
Transcript: ENSMUST00000194561
SMART Domains Protein: ENSMUSP00000141944
Gene: ENSMUSG00000015314

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 noncoding transcript
Transcript: ENSMUST00000195206
Predicted Effect probably benign
Transcript: ENSMUST00000195656
SMART Domains Protein: ENSMUSP00000141448
Gene: ENSMUSG00000015314

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
MGI Phenotype Strain: 3581614
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,163,830 (GRCm38) T772S probably damaging Het
Abca4 G A 3: 122,110,681 (GRCm38) V794M probably benign Het
Acox3 G A 5: 35,608,339 (GRCm38) probably null Het
Adamts17 A G 7: 67,147,715 (GRCm38) N1060S probably damaging Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Als2 T C 1: 59,174,991 (GRCm38) Y1346C probably benign Het
Apol10b A T 15: 77,585,015 (GRCm38) F321I probably benign Het
Atp5f1 A G 3: 105,951,589 (GRCm38) probably null Het
Bloc1s5 A G 13: 38,619,084 (GRCm38) probably benign Het
Btbd9 T C 17: 30,334,297 (GRCm38) N397S possibly damaging Het
Cacna1d A G 14: 30,099,196 (GRCm38) V1121A probably benign Het
Cad G A 5: 31,060,951 (GRCm38) V460I probably damaging Het
Caprin2 A T 6: 148,843,121 (GRCm38) D935E probably damaging Het
Ccdc150 A T 1: 54,354,636 (GRCm38) K686N probably benign Het
Ccnt2 T C 1: 127,799,406 (GRCm38) F186L possibly damaging Het
Cd5l G A 3: 87,367,880 (GRCm38) probably null Het
Chrna7 A G 7: 63,099,252 (GRCm38) V494A probably benign Het
Clec2i T G 6: 128,895,425 (GRCm38) Y198* probably null Het
Col22a1 A G 15: 72,007,176 (GRCm38) V44A probably damaging Het
Cspg4 T A 9: 56,886,979 (GRCm38) I666N probably damaging Het
Cyp3a16 A T 5: 145,465,031 (GRCm38) probably null Het
Dlk1 G T 12: 109,458,119 (GRCm38) C102F probably damaging Het
Dscc1 T A 15: 55,084,139 (GRCm38) H215L probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 55,080,176 (GRCm38) probably benign Het
Dus1l C G 11: 120,795,671 (GRCm38) G15R probably benign Het
Eps8l1 G T 7: 4,471,823 (GRCm38) V268L probably benign Het
F2 A C 2: 91,634,906 (GRCm38) C104W probably damaging Het
F5 C A 1: 164,192,535 (GRCm38) Q860K probably benign Het
Fmn2 T C 1: 174,502,266 (GRCm38) L74P unknown Het
Frmd6 G A 12: 70,893,622 (GRCm38) R347Q possibly damaging Het
Gabbr1 T G 17: 37,054,767 (GRCm38) S158A probably damaging Het
Galc T C 12: 98,234,266 (GRCm38) N295S probably damaging Het
Gm436 A G 4: 144,669,959 (GRCm38) V401A probably benign Het
Gm6408 A T 5: 146,482,322 (GRCm38) N49I probably damaging Het
Grm1 T A 10: 11,079,866 (GRCm38) T225S possibly damaging Het
Grm8 C T 6: 27,285,867 (GRCm38) V849I possibly damaging Het
Hmcn2 A G 2: 31,314,590 (GRCm38) D59G probably damaging Het
Iars G A 13: 49,723,077 (GRCm38) probably null Het
Ifi27 C T 12: 103,437,682 (GRCm38) A127V possibly damaging Het
Ikbip A G 10: 91,096,481 (GRCm38) N329S probably damaging Het
Ikbke T C 1: 131,265,877 (GRCm38) T479A probably benign Het
Krt12 T A 11: 99,416,060 (GRCm38) N472I probably damaging Het
Lmnb2 A T 10: 80,907,191 (GRCm38) L193Q probably damaging Het
Lrriq4 T C 3: 30,650,252 (GRCm38) V128A probably benign Het
Map4k4 C A 1: 40,000,757 (GRCm38) probably benign Het
Mtmr7 T C 8: 40,551,811 (GRCm38) T575A probably benign Het
Myh13 G A 11: 67,334,576 (GRCm38) A256T probably benign Het
Napepld A G 5: 21,683,410 (GRCm38) Y14H probably benign Het
Npr1 T C 3: 90,459,337 (GRCm38) T552A probably damaging Het
Nudt15 A G 14: 73,521,647 (GRCm38) F127S probably benign Het
Nwd2 T A 5: 63,808,271 (GRCm38) S1733T probably benign Het
Olfr1189 A G 2: 88,592,436 (GRCm38) I211V probably benign Het
Olfr1257 G A 2: 89,881,129 (GRCm38) G101E probably damaging Het
Olfr1348 T G 7: 6,501,441 (GRCm38) I262L probably benign Het
Olfr907 A G 9: 38,499,038 (GRCm38) Y123C probably damaging Het
Olfr96 T C 17: 37,225,430 (GRCm38) F102L probably benign Het
Paqr7 A T 4: 134,507,098 (GRCm38) I89F probably benign Het
Pidd1 C A 7: 141,439,630 (GRCm38) V706L probably benign Het
Polr3c A T 3: 96,713,595 (GRCm38) I469N probably damaging Het
Ppip5k1 A G 2: 121,348,547 (GRCm38) Y233H probably damaging Het
Psmc3 A G 2: 91,055,995 (GRCm38) T166A possibly damaging Het
Ptchd3 A T 11: 121,842,542 (GRCm38) I753L probably benign Het
Rad21 T C 15: 51,978,170 (GRCm38) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm38) E479G possibly damaging Het
Rfwd3 C T 8: 111,288,242 (GRCm38) R326Q probably damaging Het
Rgs20 C T 1: 4,910,640 (GRCm38) R154Q probably damaging Het
Sbf1 T C 15: 89,294,425 (GRCm38) D1449G probably damaging Het
Sema4g C T 19: 45,001,605 (GRCm38) R708* probably null Het
Sept9 T C 11: 117,290,428 (GRCm38) I18T probably benign Het
Serpinb6b A G 13: 32,978,058 (GRCm38) E280G probably damaging Het
Slc6a21 G A 7: 45,287,734 (GRCm38) W554* probably null Het
Slco1a4 A C 6: 141,812,731 (GRCm38) I518R probably benign Het
Stab1 T A 14: 31,168,416 (GRCm38) Q26L probably benign Het
Stox1 A G 10: 62,667,965 (GRCm38) F104L probably damaging Het
Suco T C 1: 161,834,949 (GRCm38) K638E possibly damaging Het
Synpo T C 18: 60,602,784 (GRCm38) K458E probably damaging Het
Szt2 A T 4: 118,372,368 (GRCm38) W2820R unknown Het
Tmtc1 C A 6: 148,294,618 (GRCm38) G499W probably damaging Het
Tonsl A C 15: 76,638,066 (GRCm38) S242R probably damaging Het
Trpc4 G T 3: 54,194,822 (GRCm38) S47I possibly damaging Het
Zfp106 G A 2: 120,520,428 (GRCm38) R1581C probably benign Het
Zfp27 A G 7: 29,895,376 (GRCm38) L388P possibly damaging Het
Other mutations in Slamf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Slamf6 APN 1 171,917,780 (GRCm38) missense probably null 0.27
IGL01011:Slamf6 APN 1 171,938,099 (GRCm38) missense probably benign 0.19
P0016:Slamf6 UTSW 1 171,936,501 (GRCm38) missense probably damaging 0.97
R1565:Slamf6 UTSW 1 171,934,408 (GRCm38) missense possibly damaging 0.53
R1774:Slamf6 UTSW 1 171,942,587 (GRCm38) intron probably benign
R1993:Slamf6 UTSW 1 171,934,209 (GRCm38) missense possibly damaging 0.74
R2155:Slamf6 UTSW 1 171,938,008 (GRCm38) missense probably damaging 0.99
R2328:Slamf6 UTSW 1 171,934,251 (GRCm38) missense probably benign 0.00
R4693:Slamf6 UTSW 1 171,934,113 (GRCm38) nonsense probably null
R5062:Slamf6 UTSW 1 171,936,533 (GRCm38) missense possibly damaging 0.93
R5172:Slamf6 UTSW 1 171,936,580 (GRCm38) missense probably benign 0.01
R5249:Slamf6 UTSW 1 171,936,682 (GRCm38) missense probably damaging 1.00
R5328:Slamf6 UTSW 1 171,938,095 (GRCm38) missense probably benign 0.04
R5771:Slamf6 UTSW 1 171,917,774 (GRCm38) missense probably damaging 0.98
R6339:Slamf6 UTSW 1 171,948,048 (GRCm38) missense probably null 1.00
R6960:Slamf6 UTSW 1 171,917,753 (GRCm38) missense probably damaging 0.98
R7176:Slamf6 UTSW 1 171,934,291 (GRCm38) missense probably benign 0.13
R7400:Slamf6 UTSW 1 171,919,793 (GRCm38) missense unknown
R7535:Slamf6 UTSW 1 171,919,758 (GRCm38) missense unknown
R7629:Slamf6 UTSW 1 171,936,624 (GRCm38) missense probably damaging 0.97
R8202:Slamf6 UTSW 1 171,934,219 (GRCm38) missense probably benign 0.01
R8934:Slamf6 UTSW 1 171,917,771 (GRCm38) missense possibly damaging 0.76
R9225:Slamf6 UTSW 1 171,936,703 (GRCm38) missense probably benign 0.25
R9338:Slamf6 UTSW 1 171,919,590 (GRCm38) intron probably benign
R9581:Slamf6 UTSW 1 171,934,330 (GRCm38) missense
RF025:Slamf6 UTSW 1 171,941,582 (GRCm38) critical splice acceptor site probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23