Incidental Mutation 'R1256:Spn'
| ID |
151455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spn
|
| Ensembl Gene |
ENSMUSG00000051457 |
| Gene Name |
sialophorin |
| Synonyms |
A630014B01Rik, Ly48, Galgp, 3E8 antigen, Ly-48, Cd43, leukosialin |
| MMRRC Submission |
039323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R1256 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126731404-126736995 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126735445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 354
(K354R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049931]
[ENSMUST00000143713]
|
| AlphaFold |
P15702 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049931
AA Change: K354R
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049534
Gene: ENSMUSG00000051457
AA Change: K354R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
241 |
N/A |
INTRINSIC |
|
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143713
AA Change: K354R
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122787
Gene: ENSMUSG00000051457
AA Change: K354R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
241 |
N/A |
INTRINSIC |
|
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205483
AA Change: K98R
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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 major sialoglycoprotein found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It may be part of a physiologic ligand-receptor complex involved in T-cell activation. During T-cell activation, this protein is actively removed from the T-cell-APC (antigen-presenting cell) contact site, suggesting a negative regulatory role in adaptive immune response. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show increased T cell proliferation in response to various stimulation agents and natural antigens, enhanced homotypic adhesion, transient resistance to melanoma growth and metastasis, and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
| Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
| Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
| Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
| Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
| Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
| Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
| Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
| Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
| Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
| Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
| Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
| Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
| Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
| Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably damaging |
Het |
|
| Other mutations in Spn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00528:Spn
|
APN |
7 |
126,735,692 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02956:Spn
|
APN |
7 |
126,736,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03352:Spn
|
APN |
7 |
126,736,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4520001:Spn
|
UTSW |
7 |
126,735,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Spn
|
UTSW |
7 |
126,735,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0624:Spn
|
UTSW |
7 |
126,735,380 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0905:Spn
|
UTSW |
7 |
126,735,503 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2055:Spn
|
UTSW |
7 |
126,736,388 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2084:Spn
|
UTSW |
7 |
126,736,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2105:Spn
|
UTSW |
7 |
126,735,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2251:Spn
|
UTSW |
7 |
126,736,331 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5031:Spn
|
UTSW |
7 |
126,736,402 (GRCm39) |
missense |
probably benign |
|
|
R6146:Spn
|
UTSW |
7 |
126,735,479 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6362:Spn
|
UTSW |
7 |
126,735,895 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7353:Spn
|
UTSW |
7 |
126,736,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7583:Spn
|
UTSW |
7 |
126,736,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8507:Spn
|
UTSW |
7 |
126,735,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9721:Spn
|
UTSW |
7 |
126,735,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAAATGCAGAGTGTGCGGC -3'
(R):5'- TGAGATGCATGGACTCCCTGCTAC -3'
Sequencing Primer
(F):5'- AGTGTGCGGCAGCTAAC -3'
(R):5'- GCACCTCAGTTTCCAGCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation