Incidental Mutation 'R4171:Sp100'
| ID |
318121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp100
|
| Ensembl Gene |
ENSMUSG00000026222 |
| Gene Name |
nuclear antigen Sp100 |
| Synonyms |
A430075G10Rik |
| MMRRC Submission |
041011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R4171 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85577709-85637719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85634562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 152
(S152P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066427]
[ENSMUST00000132641]
[ENSMUST00000153574]
|
| AlphaFold |
O35892 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066427
|
| SMART Domains |
Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
21 |
119 |
3.4e-40 |
PFAM |
|
low complexity region
|
320 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
377 |
N/A |
INTRINSIC |
|
SAND
|
386 |
459 |
8.85e-38 |
SMART |
|
BROMO
|
473 |
573 |
1.16e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132641
AA Change: S152P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120267
Gene: ENSMUSG00000026222
AA Change: S152P
| Domain | Start | End | E-Value | Type |
|---|
|
SAND
|
19 |
92 |
8.85e-38 |
SMART |
|
low complexity region
|
101 |
114 |
N/A |
INTRINSIC |
|
PHD
|
117 |
159 |
5.97e-3 |
SMART |
|
BROMO
|
184 |
284 |
5.49e-5 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141709
AA Change: S70P
|
| SMART Domains |
Protein: ENSMUSP00000119301
Gene: ENSMUSG00000026222
AA Change: S70P
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
36 |
78 |
5.97e-3 |
SMART |
|
Blast:BROMO
|
103 |
136 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153574
|
| SMART Domains |
Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
19 |
122 |
9.2e-47 |
PFAM |
|
low complexity region
|
342 |
352 |
N/A |
INTRINSIC |
|
SAND
|
361 |
434 |
8.85e-38 |
SMART |
|
Blast:BROMO
|
453 |
476 |
9e-6 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Apmap |
A |
G |
2: 150,425,987 (GRCm39) |
V387A |
probably benign |
Het |
| B130024G19Rik |
C |
T |
7: 70,038,454 (GRCm39) |
|
noncoding transcript |
Het |
| Cd200r1 |
A |
G |
16: 44,613,127 (GRCm39) |
I244M |
probably damaging |
Het |
| Clic6 |
T |
C |
16: 92,293,949 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 114,001,863 (GRCm39) |
D429G |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,591,636 (GRCm39) |
Y458* |
probably null |
Het |
| Elapor1 |
G |
T |
3: 108,368,259 (GRCm39) |
Q885K |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,748,786 (GRCm39) |
Y378H |
probably benign |
Het |
| Ifi203 |
A |
C |
1: 173,761,341 (GRCm39) |
|
probably benign |
Het |
| Ifna6 |
T |
C |
4: 88,746,038 (GRCm39) |
V129A |
probably benign |
Het |
| Igkv3-4 |
G |
A |
6: 70,649,324 (GRCm39) |
A108T |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,167,422 (GRCm39) |
Q165* |
probably null |
Het |
| Kdm4c |
T |
A |
4: 74,199,135 (GRCm39) |
Y108N |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,168 (GRCm39) |
V486I |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,228,163 (GRCm39) |
|
probably null |
Het |
| Mettl6 |
T |
C |
14: 31,215,624 (GRCm39) |
N52S |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,343 (GRCm39) |
I458T |
possibly damaging |
Het |
| Or1e16 |
A |
C |
11: 73,286,365 (GRCm39) |
L161R |
probably damaging |
Het |
| Or6c204 |
G |
A |
10: 129,022,453 (GRCm39) |
A279V |
probably benign |
Het |
| Pecr |
A |
T |
1: 72,315,428 (GRCm39) |
N107K |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,593,997 (GRCm39) |
Q1307R |
probably benign |
Het |
| Poll |
T |
C |
19: 45,544,492 (GRCm39) |
K310E |
probably damaging |
Het |
| Rab29 |
A |
G |
1: 131,795,475 (GRCm39) |
Q29R |
probably benign |
Het |
| Reg2 |
G |
A |
6: 78,383,574 (GRCm39) |
G99D |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,253,429 (GRCm39) |
S58L |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,435,405 (GRCm39) |
E43G |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,757,815 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
A |
12: 73,397,326 (GRCm39) |
Y323N |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,248,810 (GRCm39) |
Y605C |
probably damaging |
Het |
| Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,996 (GRCm39) |
F247L |
probably damaging |
Het |
| Zbtb39 |
C |
T |
10: 127,578,236 (GRCm39) |
T270I |
possibly damaging |
Het |
| Zfp512b |
G |
A |
2: 181,232,391 (GRCm39) |
|
probably null |
Het |
| Zwilch |
T |
A |
9: 64,065,997 (GRCm39) |
R255* |
probably null |
Het |
|
| Other mutations in Sp100 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01082:Sp100
|
APN |
1 |
85,597,741 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01998:Sp100
|
APN |
1 |
85,594,650 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02192:Sp100
|
APN |
1 |
85,635,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02809:Sp100
|
APN |
1 |
85,608,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03274:Sp100
|
APN |
1 |
85,635,025 (GRCm39) |
intron |
probably benign |
|
|
PIT4458001:Sp100
|
UTSW |
1 |
85,635,837 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0115:Sp100
|
UTSW |
1 |
85,577,852 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Sp100
|
UTSW |
1 |
85,608,831 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0620:Sp100
|
UTSW |
1 |
85,587,588 (GRCm39) |
splice site |
probably null |
|
|
R0693:Sp100
|
UTSW |
1 |
85,594,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0709:Sp100
|
UTSW |
1 |
85,622,002 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0744:Sp100
|
UTSW |
1 |
85,627,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0836:Sp100
|
UTSW |
1 |
85,627,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1175:Sp100
|
UTSW |
1 |
85,629,141 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1496:Sp100
|
UTSW |
1 |
85,591,242 (GRCm39) |
splice site |
probably benign |
|
|
R1749:Sp100
|
UTSW |
1 |
85,627,357 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2046:Sp100
|
UTSW |
1 |
85,636,786 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2069:Sp100
|
UTSW |
1 |
85,608,863 (GRCm39) |
splice site |
probably null |
|
|
R2441:Sp100
|
UTSW |
1 |
85,631,210 (GRCm39) |
unclassified |
probably benign |
|
|
R3933:Sp100
|
UTSW |
1 |
85,608,830 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4762:Sp100
|
UTSW |
1 |
85,629,179 (GRCm39) |
makesense |
probably null |
|
|
R4863:Sp100
|
UTSW |
1 |
85,632,724 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5156:Sp100
|
UTSW |
1 |
85,601,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Sp100
|
UTSW |
1 |
85,636,825 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5635:Sp100
|
UTSW |
1 |
85,609,985 (GRCm39) |
intron |
probably benign |
|
|
R5810:Sp100
|
UTSW |
1 |
85,593,006 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5910:Sp100
|
UTSW |
1 |
85,608,861 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5931:Sp100
|
UTSW |
1 |
85,606,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Sp100
|
UTSW |
1 |
85,634,960 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7514:Sp100
|
UTSW |
1 |
85,608,860 (GRCm39) |
nonsense |
probably null |
|
|
R7647:Sp100
|
UTSW |
1 |
85,619,764 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7851:Sp100
|
UTSW |
1 |
85,634,647 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7908:Sp100
|
UTSW |
1 |
85,635,788 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8064:Sp100
|
UTSW |
1 |
85,608,860 (GRCm39) |
nonsense |
probably null |
|
|
R8094:Sp100
|
UTSW |
1 |
85,624,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8757:Sp100
|
UTSW |
1 |
85,590,285 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8785:Sp100
|
UTSW |
1 |
85,627,472 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9382:Sp100
|
UTSW |
1 |
85,627,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9453:Sp100
|
UTSW |
1 |
85,629,179 (GRCm39) |
makesense |
probably null |
|
|
R9464:Sp100
|
UTSW |
1 |
85,624,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGGATAAACTCCTCATTCAAC -3'
(R):5'- ACTGAGTTCCTCTGCCAACC -3'
Sequencing Primer
(F):5'- CCTTGCATTTTGAGCCTACATGGAG -3'
(R):5'- GTTCCTCTGCCAACCAAAAAGGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation