Incidental Mutation 'R1220:Slamf9'
| ID |
99979 |
| 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 |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172302927-172305976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 172304898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 171
(Q171K)
|
| 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 benign
Transcript: ENSMUST00000027830
AA Change: Q171K
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027830
Gene: ENSMUSG00000026548
AA Change: Q171K
| 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: ENSMUST00000194187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192784
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
possibly damaging |
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 |
|
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 |
|
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'- AACAGCTCTCGAAGCCTTTATTCCC -3'
(R):5'- TTGCACAGGCTCAGGAATGGTG -3'
Sequencing Primer
(F):5'- GCCACATTGAATCTACTTTGGG -3'
(R):5'- CAGGAATGGTGTCTTGGGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation