Incidental Mutation 'R8202:Slamf6'
| ID |
635696 |
| 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 |
067625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8202 (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 171761786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 69
(Y69C)
|
| 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: Y69C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000130610
Gene: ENSMUSG00000015314
AA Change: Y69C
| 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 |
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 benign
Transcript: ENSMUST00000194561
AA Change: Y69C
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141944
Gene: ENSMUSG00000015314
AA Change: Y69C
| 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 benign
Transcript: ENSMUST00000195656
AA Change: Y69C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000141448
Gene: ENSMUSG00000015314
AA Change: Y69C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,057 (GRCm39) |
R36C |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,728,874 (GRCm39) |
H127L |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,588,274 (GRCm39) |
Q306R |
probably benign |
Het |
| Bckdha |
G |
A |
7: 25,329,738 (GRCm39) |
H431Y |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,274,195 (GRCm39) |
M2256L |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,607,768 (GRCm39) |
F298L |
possibly damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,896,953 (GRCm39) |
A640T |
|
Het |
| Cers3 |
A |
G |
7: 66,435,761 (GRCm39) |
D240G |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,919,495 (GRCm39) |
E99G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,369,649 (GRCm39) |
V1609A |
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,502,486 (GRCm39) |
F1329S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,355,202 (GRCm39) |
Q1825R |
probably damaging |
Het |
| Guf1 |
C |
A |
5: 69,720,545 (GRCm39) |
A335E |
possibly damaging |
Het |
| Heatr6 |
C |
A |
11: 83,650,234 (GRCm39) |
T230K |
possibly damaging |
Het |
| Klhl11 |
G |
A |
11: 100,354,150 (GRCm39) |
S557L |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,647 (GRCm39) |
N347D |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,227,497 (GRCm39) |
I313V |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,532,448 (GRCm39) |
T131M |
probably damaging |
Het |
| Npr1 |
T |
A |
3: 90,368,731 (GRCm39) |
Y443F |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,765 (GRCm39) |
N163S |
possibly damaging |
Het |
| Nufip1 |
A |
G |
14: 76,348,604 (GRCm39) |
I78V |
probably benign |
Het |
| Oplah |
C |
T |
15: 76,186,669 (GRCm39) |
G670D |
probably benign |
Het |
| Or51a24 |
A |
G |
7: 103,734,198 (GRCm39) |
S30P |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,968 (GRCm39) |
E269D |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,518 (GRCm39) |
*313W |
probably null |
Het |
| Pcnx1 |
T |
G |
12: 81,941,821 (GRCm39) |
I73S |
probably benign |
Het |
| Pigp |
A |
T |
16: 94,165,528 (GRCm39) |
N204K |
probably benign |
Het |
| Prelid2 |
T |
A |
18: 42,065,802 (GRCm39) |
I78F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,189,750 (GRCm39) |
Y1516C |
probably damaging |
Het |
| Rab31 |
T |
C |
17: 65,974,881 (GRCm39) |
E157G |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,180 (GRCm39) |
Y445H |
probably damaging |
Het |
| Rnf220 |
T |
A |
4: 117,347,070 (GRCm39) |
H114L |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,790,457 (GRCm39) |
W1450R |
probably benign |
Het |
| Smc3 |
T |
C |
19: 53,617,123 (GRCm39) |
I512T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| St3gal3 |
T |
A |
4: 117,964,868 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,011,917 (GRCm39) |
F338L |
probably damaging |
Het |
| Tgs1 |
G |
A |
4: 3,586,097 (GRCm39) |
A325T |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,494 (GRCm39) |
I261K |
probably damaging |
Het |
| Trim3 |
A |
T |
7: 105,260,632 (GRCm39) |
H662Q |
possibly damaging |
Het |
| Unc13c |
C |
T |
9: 73,643,844 (GRCm39) |
V1207M |
probably damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,749 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r33 |
A |
T |
7: 7,557,153 (GRCm39) |
C516S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,851,328 (GRCm39) |
V2321A |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,387,589 (GRCm39) |
T4874K |
unknown |
Het |
| Zfp677 |
T |
C |
17: 21,613,535 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,642,760 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
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'- CTGGCCTTCTTCCAAAGAGC -3'
(R):5'- TCTGCGCAGTGTATGATCC -3'
Sequencing Primer
(F):5'- TGGCCTTCTTCCAAAGAGCTTAAAC -3'
(R):5'- ATCCTGTGTCTGCCATGGTAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation