Incidental Mutation 'R6518:Sp140'
| ID |
520843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp140
|
| Ensembl Gene |
ENSMUSG00000070031 |
| Gene Name |
Sp140 nuclear body protein |
| Synonyms |
|
| MMRRC Submission |
044645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R6518 (G1)
|
| Quality Score |
103.467 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
85528099-85572758 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
TTTTTTTTTTTT to TTTTTTTTTTTTTTTTT
at 85572291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080204]
|
| AlphaFold |
Q6NSQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080204
|
| SMART Domains |
Protein: ENSMUSP00000079095
Gene: ENSMUSG00000070031
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
24 |
121 |
5.1e-40 |
PFAM |
|
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
248 |
N/A |
INTRINSIC |
|
SAND
|
256 |
329 |
4.17e-34 |
SMART |
|
PHD
|
360 |
402 |
3.7e-8 |
SMART |
|
BROMO
|
423 |
526 |
4.49e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160119
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161497
|
| SMART Domains |
Protein: ENSMUSP00000125026
Gene: ENSMUSG00000070031
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAND
|
1 |
52 |
1e-19 |
PFAM |
|
PHD
|
84 |
126 |
3.7e-8 |
SMART |
|
Blast:BROMO
|
153 |
176 |
4e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161540
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
98% (48/49) |
| 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 SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,123,608 (GRCm39) |
D88G |
probably damaging |
Het |
| Abcc12 |
A |
G |
8: 87,235,718 (GRCm39) |
|
|
Het |
| Angptl6 |
T |
C |
9: 20,786,656 (GRCm39) |
H330R |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,649,397 (GRCm39) |
V462E |
probably damaging |
Het |
| Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,498,534 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
A |
17: 35,083,094 (GRCm39) |
I426F |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,953,179 (GRCm39) |
Y1049N |
probably damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,283 (GRCm39) |
M134K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,663,904 (GRCm39) |
D145G |
possibly damaging |
Het |
| Ckap2 |
A |
T |
8: 22,663,319 (GRCm39) |
I492K |
probably benign |
Het |
| Cog2 |
G |
A |
8: 125,253,842 (GRCm39) |
W67* |
probably null |
Het |
| Col7a1 |
T |
C |
9: 108,784,595 (GRCm39) |
F172L |
unknown |
Het |
| Dcaf1 |
T |
C |
9: 106,712,788 (GRCm39) |
I112T |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,741,081 (GRCm39) |
I518V |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,835,419 (GRCm39) |
L908P |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,479 (GRCm39) |
Y563H |
probably benign |
Het |
| Gm16686 |
A |
C |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
A |
T |
7: 118,743,734 (GRCm39) |
F284I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,428 (GRCm39) |
F553I |
possibly damaging |
Het |
| Igkv6-29 |
T |
A |
6: 70,115,497 (GRCm39) |
Q99L |
probably damaging |
Het |
| Lipt1 |
A |
G |
1: 37,914,856 (GRCm39) |
N304S |
probably benign |
Het |
| Lmo1 |
A |
C |
7: 108,742,783 (GRCm39) |
L39R |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,794,878 (GRCm39) |
|
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,386,940 (GRCm39) |
T74A |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,716,501 (GRCm39) |
L624H |
probably damaging |
Het |
| Or11a4 |
G |
T |
17: 37,536,159 (GRCm39) |
A48S |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,334 (GRCm39) |
V78A |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,728,077 (GRCm39) |
I115V |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,116 (GRCm39) |
Y153H |
probably benign |
Het |
| Pdzrn3 |
A |
T |
6: 101,127,475 (GRCm39) |
*1064K |
probably null |
Het |
| Pias1 |
A |
G |
9: 62,859,142 (GRCm39) |
L113P |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,239,342 (GRCm39) |
I514N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,278 (GRCm39) |
T212A |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,900,691 (GRCm39) |
Y151C |
probably damaging |
Het |
| Samhd1 |
G |
A |
2: 156,956,217 (GRCm39) |
T325M |
possibly damaging |
Het |
| Seh1l |
A |
G |
18: 67,922,519 (GRCm39) |
T291A |
probably damaging |
Het |
| Smim24 |
A |
G |
10: 81,229,695 (GRCm39) |
M1V |
probably null |
Het |
| Spata31f1e |
A |
G |
4: 42,791,750 (GRCm39) |
I794T |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,845,462 (GRCm39) |
I165S |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,923,594 (GRCm39) |
|
probably null |
Het |
| Tmem17 |
A |
T |
11: 22,467,427 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Tmem86b |
A |
T |
7: 4,632,608 (GRCm39) |
C85* |
probably null |
Het |
| Try5 |
A |
G |
6: 41,291,613 (GRCm39) |
F6S |
probably benign |
Het |
| Vmn2r71 |
G |
T |
7: 85,270,436 (GRCm39) |
C534F |
probably damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,265,281 (GRCm39) |
D67E |
probably benign |
Het |
| Wars2 |
A |
T |
3: 99,124,116 (GRCm39) |
M326L |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,821 (GRCm39) |
S108R |
unknown |
Het |
| Zfp677 |
A |
G |
17: 21,618,392 (GRCm39) |
H483R |
probably damaging |
Het |
|
| Other mutations in Sp140 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Sp140
|
APN |
1 |
85,569,543 (GRCm39) |
nonsense |
probably null |
|
|
IGL00561:Sp140
|
APN |
1 |
85,549,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00572:Sp140
|
APN |
1 |
85,549,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00591:Sp140
|
APN |
1 |
85,549,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Sp140
|
APN |
1 |
85,553,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Sp140
|
APN |
1 |
85,553,886 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02106:Sp140
|
APN |
1 |
85,570,940 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02303:Sp140
|
APN |
1 |
85,570,730 (GRCm39) |
nonsense |
probably null |
|
|
PIT4131001:Sp140
|
UTSW |
1 |
85,538,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4131001:Sp140
|
UTSW |
1 |
85,528,893 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4131001:Sp140
|
UTSW |
1 |
85,570,942 (GRCm39) |
missense |
probably benign |
|
|
PIT4142001:Sp140
|
UTSW |
1 |
85,570,942 (GRCm39) |
missense |
probably benign |
|
|
PIT4142001:Sp140
|
UTSW |
1 |
85,538,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4142001:Sp140
|
UTSW |
1 |
85,528,893 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0378:Sp140
|
UTSW |
1 |
85,547,772 (GRCm39) |
splice site |
probably benign |
|
|
R0815:Sp140
|
UTSW |
1 |
85,547,772 (GRCm39) |
splice site |
probably benign |
|
|
R1320:Sp140
|
UTSW |
1 |
85,563,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1642:Sp140
|
UTSW |
1 |
85,538,545 (GRCm39) |
splice site |
probably null |
|
|
R1791:Sp140
|
UTSW |
1 |
85,547,772 (GRCm39) |
splice site |
probably benign |
|
|
R4776:Sp140
|
UTSW |
1 |
85,538,549 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4780:Sp140
|
UTSW |
1 |
85,538,549 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4839:Sp140
|
UTSW |
1 |
85,538,529 (GRCm39) |
unclassified |
probably benign |
|
|
R5051:Sp140
|
UTSW |
1 |
85,538,549 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5287:Sp140
|
UTSW |
1 |
85,538,545 (GRCm39) |
splice site |
probably null |
|
|
R5379:Sp140
|
UTSW |
1 |
85,538,549 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7125:Sp140
|
UTSW |
1 |
85,572,290 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7128:Sp140
|
UTSW |
1 |
85,547,846 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7785:Sp140
|
UTSW |
1 |
85,547,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Sp140
|
UTSW |
1 |
85,547,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8481:Sp140
|
UTSW |
1 |
85,569,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8501:Sp140
|
UTSW |
1 |
85,569,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Sp140
|
UTSW |
1 |
85,572,295 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8994:Sp140
|
UTSW |
1 |
85,549,603 (GRCm39) |
splice site |
probably null |
|
|
R9053:Sp140
|
UTSW |
1 |
85,572,290 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9137:Sp140
|
UTSW |
1 |
85,570,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9594:Sp140
|
UTSW |
1 |
85,560,235 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9777:Sp140
|
UTSW |
1 |
85,569,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1191:Sp140
|
UTSW |
1 |
85,569,524 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGATTGCTTCTTACTCCCCGTAG -3'
(R):5'- GGTGTAACTCCTAGCTGCAC -3'
Sequencing Primer
(F):5'- CCCCGTAGTCAAGATTCTCAG -3'
(R):5'- CAAACTTGGACTCCAGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation