Incidental Mutation 'R4124:Slamf9'
| ID |
315305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slamf9
|
| Ensembl Gene |
ENSMUSG00000026548 |
| Gene Name |
SLAM family member 9 |
| Synonyms |
CD2F-10, Cd2f10, CD84-H1, SF2001, 2310026I04Rik |
| MMRRC Submission |
041632-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172302927-172305976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172303808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 51
(I51T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027830]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027830
AA Change: I51T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027830
Gene: ENSMUSG00000026548
AA Change: I51T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
25 |
128 |
2.68e-4 |
SMART |
|
Blast:IG_like
|
139 |
198 |
7e-8 |
BLAST |
|
low complexity region
|
199 |
216 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194187
|
| Meta Mutation Damage Score |
0.8126 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,345 (GRCm39) |
M338K |
probably damaging |
Het |
| 4933409G03Rik |
T |
A |
2: 68,446,568 (GRCm39) |
|
probably benign |
Het |
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,670,395 (GRCm39) |
|
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,709 (GRCm39) |
F327S |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,767,972 (GRCm39) |
P630T |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,038,513 (GRCm39) |
V978M |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,689 (GRCm39) |
D864G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,167,902 (GRCm39) |
R1062G |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 63,002,755 (GRCm39) |
E99G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Gpx6 |
C |
T |
13: 21,501,815 (GRCm39) |
Q146* |
probably null |
Het |
| Grid2 |
A |
T |
6: 63,480,417 (GRCm39) |
Q77L |
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,457,580 (GRCm39) |
V287A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,210,106 (GRCm39) |
D43E |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,275,520 (GRCm39) |
S562G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,389,781 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,950,238 (GRCm39) |
I111M |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,163 (GRCm39) |
T68S |
probably benign |
Het |
| Ypel2 |
A |
G |
11: 86,836,753 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slamf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0020:Slamf9
|
UTSW |
1 |
172,303,082 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1220:Slamf9
|
UTSW |
1 |
172,304,898 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1646:Slamf9
|
UTSW |
1 |
172,304,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2321:Slamf9
|
UTSW |
1 |
172,304,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Slamf9
|
UTSW |
1 |
172,304,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4831:Slamf9
|
UTSW |
1 |
172,304,831 (GRCm39) |
nonsense |
probably null |
|
|
R5010:Slamf9
|
UTSW |
1 |
172,303,780 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5223:Slamf9
|
UTSW |
1 |
172,303,799 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5864:Slamf9
|
UTSW |
1 |
172,304,033 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7480:Slamf9
|
UTSW |
1 |
172,305,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8145:Slamf9
|
UTSW |
1 |
172,303,942 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9045:Slamf9
|
UTSW |
1 |
172,304,938 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9747:Slamf9
|
UTSW |
1 |
172,305,782 (GRCm39) |
missense |
unknown |
|
|
X0054:Slamf9
|
UTSW |
1 |
172,305,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGTCCTACGATGGTGCATAG -3'
(R):5'- TGTAAAGCCCTGAGTCTTCCC -3'
Sequencing Primer
(F):5'- GCAGATGAGTCATAGCTACTCTG -3'
(R):5'- CCCAGGTCAGATTGCTAATATGCAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation