Incidental Mutation 'P0016:Slamf6'
ID |
7633 |
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 |
038269-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
P0016 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171745002-171776525 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 171764068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 154
(T154A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141448
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171330]
[ENSMUST00000194182]
[ENSMUST00000194561]
[ENSMUST00000195656]
|
AlphaFold |
Q9ET39 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171330
AA Change: T154A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130610 Gene: ENSMUSG00000015314 AA Change: T154A
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194561
AA Change: T154A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141944 Gene: ENSMUSG00000015314 AA Change: T154A
Domain | Start | End | E-Value | Type |
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: T154A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141448 Gene: ENSMUSG00000015314 AA Change: T154A
Domain | Start | End | E-Value | Type |
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 |
0.6467 |
Coding Region Coverage |
- 1x: 85.6%
- 3x: 81.0%
- 10x: 66.8%
- 20x: 50.1%
|
Validation Efficiency |
96% (97/101) |
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
T |
5: 138,561,200 (GRCm39) |
L154* |
probably null |
Het |
4930432E11Rik |
T |
C |
7: 29,262,537 (GRCm39) |
|
noncoding transcript |
Het |
Arap3 |
T |
A |
18: 38,117,401 (GRCm39) |
T892S |
probably benign |
Het |
Ctnnd2 |
G |
A |
15: 30,967,084 (GRCm39) |
V987I |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,071,180 (GRCm39) |
I351V |
probably benign |
Het |
Kif27 |
G |
A |
13: 58,451,266 (GRCm39) |
Q1021* |
probably null |
Het |
Klb |
G |
A |
5: 65,537,266 (GRCm39) |
W865* |
probably null |
Het |
Mbd1 |
C |
T |
18: 74,407,609 (GRCm39) |
R130* |
probably null |
Het |
Mroh7 |
T |
A |
4: 106,565,054 (GRCm39) |
|
probably null |
Het |
Myo16 |
C |
T |
8: 10,450,596 (GRCm39) |
|
probably benign |
Het |
Rbm22 |
T |
A |
18: 60,703,842 (GRCm39) |
|
probably benign |
Het |
Rnaseh2a |
C |
G |
8: 85,686,429 (GRCm39) |
D206H |
probably damaging |
Het |
Slain1 |
A |
G |
14: 103,923,110 (GRCm39) |
T187A |
probably benign |
Het |
Traip |
A |
G |
9: 107,845,855 (GRCm39) |
D316G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,641,527 (GRCm39) |
D5196G |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 38,000,822 (GRCm39) |
V1569M |
probably damaging |
Het |
Zfp750 |
T |
A |
11: 121,404,804 (GRCm39) |
K24* |
probably null |
Het |
Zfp799 |
T |
C |
17: 33,038,331 (GRCm39) |
E645G |
possibly damaging |
Het |
|
Other mutations in Slamf6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
|
Protein Function and Prediction |
Slamf6 (alternatively, NTB-A) is a tyrosine-phosphorylated antigen involved in the lysis of Epstein-Barr virus-infected cells (1). NTB-A was identified as a member of the CD2 superfamily/CD150 family of receptors and ligands (2). NTB-A can co-stimulate T cells to induce proliferation and IFN-γ expression (2). In addition, NTB-A promotes the differentiation of T cells to Th1 cells (2).
|
Expression/Localization |
Slamf6 is expressed on natural killer, T, and B lymphocytes (1;2).
|
Background |
Slamf6tm1Dhow/tm1Dhow; MGI:3581614
involves: 129/Sv * C57BL/6
Homozygous animals have increased circulating IL-12b, IL-16, andTNF levels after infection with Salmonella tymphimurium (3). Also, 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 (3).
Slamf6tm1Lex/tm1Lex; MGI:3529322
involves: 129S5/SvEvBrd * C57BL/6J
Homozygous mice show no overt phenotype.
|
References |
1. Bottino, C., Falco, M., Parolini, S., Marcenaro, E., Augugliaro, R., Sivori, S., Landi, E., Biassoni, R., Notarangelo, L. D., Moretta, L., and Moretta, A. (2001) NTB-A [Correction of GNTB-A], a Novel SH2D1A-Associated Surface Molecule Contributing to the Inability of Natural Killer Cells to Kill Epstein-Barr Virus-Infected B Cells in X-Linked Lymphoproliferative Disease. J Exp Med. 194, 235-246.
2. Valdez, P. A., Wang, H., Seshasayee, D., van Lookeren Campagne, M., Gurney, A., Lee, W. P., and Grewal, I. S. (2004) NTB-A, a New Activating Receptor in T Cells that Regulates Autoimmune Disease. J Biol Chem. 279, 18662-18669.
3. Howie, D., Laroux, F. S., Morra, M., Satoskar, A. R., Rosas, L. E., Faubion, W. A., Julien, A., Rietdijk, S., Coyle, A. J., Fraser, C., and Terhorst, C. (2005) Cutting Edge: The SLAM Family Receptor Ly108 Controls T Cell and Neutrophil Functions. J Immunol. 174, 5931-5935.
|
Posted On |
2012-10-05 |
Science Writer |
Anne Murray |