Incidental Mutation 'IGL00964:Slamf6'
| ID |
26731 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slamf6
|
| Ensembl Gene |
ENSMUSG00000015314 |
| Gene Name |
SLAM family member 6 |
| Synonyms |
KAL1b, NTB-A, KAL1, Ly108, SF2000 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL00964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171745002-171776525 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 171745347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 25
(C25S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171330]
[ENSMUST00000194182]
[ENSMUST00000194561]
[ENSMUST00000195656]
|
| AlphaFold |
Q9ET39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171330
AA Change: C25S
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130610
Gene: ENSMUSG00000015314
AA Change: C25S
| 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: ENSMUST00000191636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192498
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000194561
AA Change: C25S
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141944
Gene: ENSMUSG00000015314
AA Change: C25S
| 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 |
noncoding transcript
Transcript: ENSMUST00000194924
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195656
AA Change: C25S
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141448
Gene: ENSMUSG00000015314
AA Change: C25S
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
T |
A |
7: 44,009,610 (GRCm39) |
*197C |
probably null |
Het |
| Acsl6 |
A |
G |
11: 54,216,472 (GRCm39) |
Y213C |
probably damaging |
Het |
| Agt |
T |
C |
8: 125,284,634 (GRCm39) |
|
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,318,228 (GRCm39) |
D144G |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,432,330 (GRCm39) |
I32V |
probably benign |
Het |
| Astn2 |
T |
A |
4: 66,103,424 (GRCm39) |
M330L |
unknown |
Het |
| AU040320 |
T |
A |
4: 126,748,199 (GRCm39) |
C1029* |
probably null |
Het |
| Brca2 |
T |
A |
5: 150,455,775 (GRCm39) |
I172N |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,343 (GRCm39) |
I170T |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,800,765 (GRCm39) |
|
probably null |
Het |
| Dusp26 |
G |
T |
8: 31,584,136 (GRCm39) |
R81L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,174,881 (GRCm39) |
|
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,958,163 (GRCm39) |
C141R |
probably benign |
Het |
| Ftsj3 |
G |
T |
11: 106,143,941 (GRCm39) |
A261D |
probably benign |
Het |
| Gm5431 |
G |
A |
11: 48,780,094 (GRCm39) |
T554I |
probably damaging |
Het |
| Hyls1 |
A |
G |
9: 35,473,408 (GRCm39) |
|
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,421,518 (GRCm39) |
T124S |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,264,638 (GRCm39) |
I457N |
probably damaging |
Het |
| Klk1b1 |
T |
G |
7: 43,620,593 (GRCm39) |
S228A |
possibly damaging |
Het |
| Lpar2 |
T |
C |
8: 70,279,162 (GRCm39) |
S319P |
probably benign |
Het |
| Lsr |
T |
C |
7: 30,671,421 (GRCm39) |
N104S |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,604 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,532,796 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
G |
A |
2: 144,147,599 (GRCm39) |
A217V |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,784 (GRCm39) |
Q447L |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,335,726 (GRCm39) |
I453T |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,916,793 (GRCm39) |
W1037* |
probably null |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,740,802 (GRCm39) |
I2995T |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,347,527 (GRCm39) |
Q229H |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,248,714 (GRCm39) |
N520T |
probably damaging |
Het |
| Spr-ps1 |
C |
A |
6: 85,132,016 (GRCm39) |
|
noncoding transcript |
Het |
| Stx4a |
A |
G |
7: 127,441,898 (GRCm39) |
Q92R |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,785,837 (GRCm39) |
V638G |
probably benign |
Het |
| Trim41 |
C |
A |
11: 48,703,190 (GRCm39) |
R79S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 85,896,057 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,404,203 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,762,756 (GRCm39) |
L220Q |
probably damaging |
Het |
|
| Other mutations in Slamf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation