Incidental Mutation 'R6960:Slamf6'
ID 541688
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 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171745002-171776525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171745320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 16 (M16V)
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: M16V

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130610
Gene: ENSMUSG00000015314
AA Change: M16V

DomainStartEndE-ValueType
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: ENSMUST00000194182
SMART Domains Protein: ENSMUSP00000142242
Gene: ENSMUSG00000015314

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000194561
AA Change: M16V

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141944
Gene: ENSMUSG00000015314
AA Change: M16V

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000195656
AA Change: M16V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141448
Gene: ENSMUSG00000015314
AA Change: M16V

DomainStartEndE-ValueType
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 0.7343 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging 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
R1993:Slamf6 UTSW 1 171,761,776 (GRCm39) missense possibly damaging 0.74
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
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
(F):5'- GTTCCCTACTGCTAAGAGTCTTAG -3'
(R):5'- TTGCTCTGAATCAGTCCCG -3'

Sequencing Primer
(F):5'- AGAGGAAGAGCTCTCATC -3'
(R):5'- TCTGAATCAGTCCCGTGGCAG -3'
Posted On 2018-11-28