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)
|
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
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 |
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
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: M16V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141448 Gene: ENSMUSG00000015314 AA Change: M16V
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 |
0.7343 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |