Incidental Mutation 'R2321:Slamf9'
| ID |
245623 |
| 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 |
040313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172302927-172305976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 172304980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 198
(C198F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027830]
[ENSMUST00000052629]
[ENSMUST00000111235]
[ENSMUST00000127052]
[ENSMUST00000127482]
[ENSMUST00000135267]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027830
AA Change: C198F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027830
Gene: ENSMUSG00000026548
AA Change: C198F
| 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 |
probably benign
Transcript: ENSMUST00000052629
|
| SMART Domains |
Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
FN3
|
508 |
593 |
1.82e-4 |
SMART |
|
FN3
|
624 |
705 |
7.01e-6 |
SMART |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111235
|
| SMART Domains |
Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
FN3
|
508 |
593 |
1.82e-4 |
SMART |
|
FN3
|
624 |
705 |
7.01e-6 |
SMART |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127052
|
| SMART Domains |
Protein: ENSMUSP00000123401
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Blast:IG
|
26 |
109 |
6e-55 |
BLAST |
|
SCOP:d1biha2
|
28 |
108 |
6e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127482
|
| SMART Domains |
Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135267
|
| SMART Domains |
Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
4 |
68 |
3.29e1 |
SMART |
|
IGc2
|
86 |
148 |
3.03e-12 |
SMART |
|
low complexity region
|
156 |
168 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8605 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (39/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abcf2 |
A |
T |
5: 24,772,251 (GRCm39) |
Y492* |
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,231,733 (GRCm39) |
|
probably benign |
Het |
| Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
| Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
| Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
| Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,925,858 (GRCm39) |
L11* |
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
| Pnma8b |
G |
T |
7: 16,679,490 (GRCm39) |
R158L |
unknown |
Het |
| Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
| Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
| Senp6 |
A |
C |
9: 80,031,022 (GRCm39) |
I575L |
possibly damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,590,543 (GRCm39) |
V370A |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,046,506 (GRCm39) |
Y582N |
probably damaging |
Het |
| Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
| Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
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 |
|
R4124:Slamf9
|
UTSW |
1 |
172,303,808 (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'- AACATCTCAGAGGAAGGTGTCTG -3'
(R):5'- AGAGTGTTATGATCTAGAGTCCTGG -3'
Sequencing Primer
(F):5'- AGGTGTCTGTAATATATCTCTGACG -3'
(R):5'- GGTCCTGAGTTCAAATCCCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation