Incidental Mutation 'R0905:Spn'
| ID |
83287 |
| 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 |
039063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R0905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126731404-126736995 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126735503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 335
(T335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049931]
[ENSMUST00000143713]
|
| AlphaFold |
P15702 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049931
AA Change: T335A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049534
Gene: ENSMUSG00000051457
AA Change: T335A
| 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 |
probably damaging
Transcript: ENSMUST00000143713
AA Change: T335A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122787
Gene: ENSMUSG00000051457
AA Change: T335A
| 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: T79A
|
| Meta Mutation Damage Score |
0.0842 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.6%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
G |
A |
2: 20,854,745 (GRCm39) |
T1539M |
possibly damaging |
Het |
| Birc2 |
A |
T |
9: 7,851,052 (GRCm39) |
*138R |
probably null |
Het |
| Bsn |
C |
A |
9: 107,982,834 (GRCm39) |
D3640Y |
unknown |
Het |
| Bsph1 |
A |
T |
7: 13,184,839 (GRCm39) |
M1L |
probably benign |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Cfap74 |
G |
A |
4: 155,503,153 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
A |
T |
8: 70,843,905 (GRCm39) |
S454T |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,075,594 (GRCm39) |
D110V |
probably damaging |
Het |
| Cyp2w1 |
A |
T |
5: 139,342,194 (GRCm39) |
Y380F |
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,622,040 (GRCm39) |
|
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,103,528 (GRCm39) |
K103E |
probably damaging |
Het |
| Eps8 |
C |
T |
6: 137,491,305 (GRCm39) |
V358I |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,330,846 (GRCm39) |
|
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,033 (GRCm39) |
|
probably null |
Het |
| Hsd17b11 |
C |
T |
5: 104,157,744 (GRCm39) |
V123I |
probably benign |
Het |
| Il31ra |
T |
A |
13: 112,668,207 (GRCm39) |
E481V |
probably damaging |
Het |
| Impdh2 |
A |
G |
9: 108,438,296 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Kndc1 |
A |
C |
7: 139,503,651 (GRCm39) |
K985T |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,824 (GRCm39) |
Y302F |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,174,197 (GRCm39) |
S1541P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,907,292 (GRCm39) |
M528T |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,063,922 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
G |
A |
8: 73,436,077 (GRCm39) |
V1436M |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,900,230 (GRCm39) |
R109* |
probably null |
Het |
| Pml |
A |
G |
9: 58,156,822 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
T |
C |
10: 106,655,372 (GRCm39) |
I313T |
probably benign |
Het |
| Prdm14 |
C |
T |
1: 13,195,662 (GRCm39) |
G133D |
probably benign |
Het |
| Ptgr3 |
A |
G |
18: 84,113,332 (GRCm39) |
H336R |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,257,791 (GRCm39) |
|
probably benign |
Het |
| Rassf10 |
C |
T |
7: 112,554,575 (GRCm39) |
T392M |
probably damaging |
Het |
| Rpe65 |
T |
C |
3: 159,307,220 (GRCm39) |
S54P |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,443,001 (GRCm39) |
V2A |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,250,290 (GRCm39) |
D1834G |
probably damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,799 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,257,648 (GRCm39) |
K1652* |
probably null |
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 |
|
R1256:Spn
|
UTSW |
7 |
126,735,445 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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'- ACCGTCAGAAGTTGGGGTTTCCAC -3'
(R):5'- TGAGATGCATGGACTCCCTGCTAC -3'
Sequencing Primer
(F):5'- GGGGTTTCCACAGCTTCATC -3'
(R):5'- GCACCTCAGTTTCCAGCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation