Incidental Mutation 'R2441:Sp100'
ID |
476268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp100
|
Ensembl Gene |
ENSMUSG00000026222 |
Gene Name |
nuclear antigen Sp100 |
Synonyms |
A430075G10Rik |
MMRRC Submission |
040399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R2441 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
85577709-85637719 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 85631210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066427]
[ENSMUST00000132641]
[ENSMUST00000147552]
[ENSMUST00000150967]
[ENSMUST00000153574]
[ENSMUST00000155094]
|
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
|
SMART Domains |
Protein: ENSMUSP00000120267 Gene: ENSMUSG00000026222
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 |
noncoding transcript
Transcript: ENSMUST00000134283
|
Predicted Effect |
unknown
Transcript: ENSMUST00000141709
AA Change: T16A
|
SMART Domains |
Protein: ENSMUSP00000119301 Gene: ENSMUSG00000026222 AA Change: T16A
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: ENSMUST00000147552
|
SMART Domains |
Protein: ENSMUSP00000116942 Gene: ENSMUSG00000026222
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
19 |
122 |
2.5e-46 |
PFAM |
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
low complexity region
|
349 |
359 |
N/A |
INTRINSIC |
SAND
|
368 |
441 |
8.85e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150967
|
SMART Domains |
Protein: ENSMUSP00000122899 Gene: ENSMUSG00000026222
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
19 |
122 |
2.1e-46 |
PFAM |
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
SAND
|
343 |
416 |
8.85e-38 |
SMART |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155094
|
SMART Domains |
Protein: ENSMUSP00000118481 Gene: ENSMUSG00000026222
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
19 |
122 |
1.6e-46 |
PFAM |
low complexity region
|
320 |
335 |
N/A |
INTRINSIC |
low complexity region
|
367 |
377 |
N/A |
INTRINSIC |
SAND
|
386 |
459 |
8.85e-38 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,385,449 (GRCm39) |
N172S |
possibly damaging |
Het |
AY358078 |
A |
G |
14: 52,037,546 (GRCm39) |
H15R |
probably benign |
Het |
Boc |
A |
G |
16: 44,308,986 (GRCm39) |
V842A |
probably damaging |
Het |
Chuk |
T |
A |
19: 44,085,360 (GRCm39) |
N262I |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,526,232 (GRCm39) |
L590Q |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,815,685 (GRCm39) |
H3806L |
possibly damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,952,761 (GRCm39) |
D224G |
probably damaging |
Het |
Hgf |
A |
T |
5: 16,809,788 (GRCm39) |
H426L |
probably damaging |
Het |
Nrxn2 |
G |
T |
19: 6,478,331 (GRCm39) |
G85W |
probably damaging |
Het |
Ntrk3 |
A |
T |
7: 77,952,410 (GRCm39) |
N602K |
probably damaging |
Het |
Or13p10 |
G |
A |
4: 118,523,332 (GRCm39) |
G206D |
possibly damaging |
Het |
Or5p51 |
T |
C |
7: 107,444,185 (GRCm39) |
T252A |
probably benign |
Het |
P3h4 |
G |
A |
11: 100,304,594 (GRCm39) |
R216W |
probably damaging |
Het |
Pced1b |
T |
A |
15: 97,282,166 (GRCm39) |
D68E |
possibly damaging |
Het |
Pzp |
A |
T |
6: 128,466,731 (GRCm39) |
L1161* |
probably null |
Het |
Rprd1a |
A |
T |
18: 24,640,257 (GRCm39) |
L173* |
probably null |
Het |
Slfn3 |
A |
G |
11: 83,103,509 (GRCm39) |
I127V |
probably benign |
Het |
Tbx15 |
T |
G |
3: 99,259,827 (GRCm39) |
M566R |
probably damaging |
Het |
Tesmin |
G |
A |
19: 3,452,577 (GRCm39) |
|
probably null |
Het |
Tmem132a |
A |
G |
19: 10,837,501 (GRCm39) |
V603A |
probably damaging |
Het |
Tob2 |
G |
T |
15: 81,735,923 (GRCm39) |
Y15* |
probably null |
Het |
Trim23 |
A |
T |
13: 104,328,583 (GRCm39) |
Q307L |
probably damaging |
Het |
Trpc4 |
A |
T |
3: 54,129,704 (GRCm39) |
I157L |
probably damaging |
Het |
Tsen34 |
A |
T |
7: 3,697,994 (GRCm39) |
K87N |
possibly damaging |
Het |
Ubr5 |
A |
G |
15: 37,989,589 (GRCm39) |
S2076P |
probably damaging |
Het |
Vmn2r59 |
C |
T |
7: 41,695,570 (GRCm39) |
V281I |
probably benign |
Het |
Vwa3b |
T |
C |
1: 37,182,150 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
C |
T |
6: 125,013,612 (GRCm39) |
P544L |
probably benign |
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 |
|
R3933:Sp100
|
UTSW |
1 |
85,608,830 (GRCm39) |
missense |
probably benign |
0.29 |
R4171:Sp100
|
UTSW |
1 |
85,634,562 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2017-05-11 |