Incidental Mutation 'R5172:Slamf6'
ID 398779
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 042752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5172 (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 G at 171764147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 180 (E180G)
Ref Sequence ENSEMBL: ENSMUSP00000141448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171330] [ENSMUST00000194182] [ENSMUST00000194561] [ENSMUST00000195656]
AlphaFold Q9ET39
Predicted Effect probably benign
Transcript: ENSMUST00000171330
AA Change: E180G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000130610
Gene: ENSMUSG00000015314
AA Change: E180G

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 noncoding transcript
Transcript: ENSMUST00000193311
Predicted Effect probably benign
Transcript: ENSMUST00000194182
SMART Domains Protein: ENSMUSP00000142242
Gene: ENSMUSG00000015314

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194561
AA Change: E180G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141944
Gene: ENSMUSG00000015314
AA Change: E180G

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 benign
Transcript: ENSMUST00000195656
AA Change: E180G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141448
Gene: ENSMUSG00000015314
AA Change: E180G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,266,434 (GRCm39) Y52C probably damaging Het
Acmsd C T 1: 127,681,585 (GRCm39) R183* probably null Het
Anxa2 T A 9: 69,392,533 (GRCm39) D127E probably damaging Het
Atrnl1 T A 19: 57,673,945 (GRCm39) Y593* probably null Het
Atxn2 C T 5: 121,933,098 (GRCm39) probably null Het
Ccl6 A T 11: 83,480,169 (GRCm39) Y66N probably damaging Het
Ccng1 A G 11: 40,642,113 (GRCm39) V223A probably benign Het
Cfap44 T C 16: 44,269,556 (GRCm39) Y1187H probably benign Het
Cfc1 A T 1: 34,575,011 (GRCm39) I10F probably benign Het
Chrne T A 11: 70,506,352 (GRCm39) T365S probably benign Het
Clec4b1 G T 6: 123,048,414 (GRCm39) R183L probably benign Het
Csmd2 A C 4: 128,371,190 (GRCm39) Q1926P probably benign Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dzip1 T A 14: 119,124,563 (GRCm39) Q570L probably damaging Het
Fam149a T A 8: 45,797,690 (GRCm39) Q507L probably damaging Het
Frem3 T C 8: 81,339,195 (GRCm39) V496A probably benign Het
Fryl A T 5: 73,259,016 (GRCm39) D589E possibly damaging Het
Hemk1 T C 9: 107,206,631 (GRCm39) E4G possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnh7 T C 2: 62,569,508 (GRCm39) D796G possibly damaging Het
Lemd2 G T 17: 27,414,356 (GRCm39) S326* probably null Het
Mdc1 T C 17: 36,163,982 (GRCm39) S1177P probably benign Het
Mfsd4b4 A G 10: 39,770,083 (GRCm39) F78S probably damaging Het
Mmgt2 T A 11: 62,555,954 (GRCm39) F101I possibly damaging Het
Myo18a T C 11: 77,714,924 (GRCm39) L785P probably damaging Het
Nup155 C A 15: 8,139,026 (GRCm39) Q33K probably benign Het
Or52r1c T C 7: 102,734,884 (GRCm39) L48P probably damaging Het
Or5w19 A G 2: 87,699,171 (GRCm39) T279A probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pank1 A T 19: 34,818,202 (GRCm39) C112* probably null Het
Pcmtd1 T A 1: 7,233,485 (GRCm39) M23K probably benign Het
Rere A T 4: 150,654,726 (GRCm39) R419S unknown Het
Rpf1 T C 3: 146,218,050 (GRCm39) R155G possibly damaging Het
Sema7a A G 9: 57,864,961 (GRCm39) T421A probably benign Het
Sharpin A G 15: 76,231,741 (GRCm39) S323P probably benign Het
Snd1 T G 6: 28,886,615 (GRCm39) V874G possibly damaging Het
Sult6b2 A T 6: 142,743,657 (GRCm39) V123D probably damaging Het
Tpk1 A T 6: 43,536,951 (GRCm39) probably null Het
Vmn1r160 A T 7: 22,570,761 (GRCm39) N38I probably damaging Het
Wdr93 T A 7: 79,402,241 (GRCm39) I180N probably damaging Het
Ythdf3 C T 3: 16,258,198 (GRCm39) T119I probably damaging Het
Zc3h18 T G 8: 123,134,159 (GRCm39) 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
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
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
(F):5'- TCACAGGTTGATCGGCAAAGC -3'
(R):5'- AGAGCATAGGTGGAACTCTGGC -3'

Sequencing Primer
(F):5'- CAAAGCCATGTGTCCTTAACTGAGG -3'
(R):5'- AACTCTGGCAGGATGTGGTTC -3'
Posted On 2016-07-06