Incidental Mutation 'R5273:Sp100'
| ID |
403749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp100
|
| Ensembl Gene |
ENSMUSG00000026222 |
| Gene Name |
nuclear antigen Sp100 |
| Synonyms |
A430075G10Rik |
| MMRRC Submission |
042862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R5273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
85577709-85637719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 85636825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 299
(V299F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066427]
[ENSMUST00000132641]
[ENSMUST00000153574]
|
| AlphaFold |
O35892 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066427
AA Change: V588F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: V588F
| 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 |
possibly damaging
Transcript: ENSMUST00000132641
AA Change: V299F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120267
Gene: ENSMUSG00000026222
AA Change: V299F
| 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 |
probably benign
Transcript: ENSMUST00000141709
|
| SMART Domains |
Protein: ENSMUSP00000119301
Gene: ENSMUSG00000026222
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
36 |
78 |
5.97e-3 |
SMART |
|
Blast:BROMO
|
103 |
136 |
2e-15 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153574
AA Change: V491F
|
| SMART Domains |
Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: V491F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,832,233 (GRCm39) |
N799S |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,759,916 (GRCm39) |
N589S |
probably damaging |
Het |
| Armc10 |
C |
T |
5: 21,858,426 (GRCm39) |
A157V |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,736,193 (GRCm39) |
L958P |
probably damaging |
Het |
| Bhmt2 |
G |
A |
13: 93,803,086 (GRCm39) |
A149V |
possibly damaging |
Het |
| Ccdc7a |
CATCAGCTGATAT |
CAT |
8: 129,788,090 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,460,070 (GRCm39) |
D141G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,825 (GRCm39) |
S2603P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
| Dis3 |
A |
G |
14: 99,336,242 (GRCm39) |
V88A |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,454,893 (GRCm39) |
C316S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,689 (GRCm39) |
T4084A |
probably damaging |
Het |
| Dock3 |
A |
C |
9: 106,777,904 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,756,947 (GRCm39) |
H1894R |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,218,330 (GRCm39) |
Y174C |
probably damaging |
Het |
| Gm4841 |
C |
T |
18: 60,403,815 (GRCm39) |
V93I |
probably benign |
Het |
| Gm7995 |
T |
C |
14: 42,133,413 (GRCm39) |
Y98H |
probably damaging |
Het |
| Gnrhr |
T |
A |
5: 86,330,105 (GRCm39) |
H305L |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,238,256 (GRCm39) |
F323I |
probably damaging |
Het |
| Kdm6b |
G |
T |
11: 69,295,027 (GRCm39) |
P1080Q |
unknown |
Het |
| Man2a1 |
C |
T |
17: 65,040,780 (GRCm39) |
T126I |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,922,320 (GRCm39) |
T274M |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,850,748 (GRCm39) |
V748E |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,528,899 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,853 (GRCm39) |
V99A |
probably benign |
Het |
| Or8g36 |
A |
G |
9: 39,422,795 (GRCm39) |
S74P |
possibly damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,766 (GRCm39) |
V239A |
probably benign |
Het |
| Ppic |
T |
A |
18: 53,542,330 (GRCm39) |
H126L |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,984,583 (GRCm39) |
F463L |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,671 (GRCm39) |
E197G |
possibly damaging |
Het |
| Slc22a14 |
A |
G |
9: 118,999,704 (GRCm39) |
S496P |
probably benign |
Het |
| Slc27a1 |
G |
A |
8: 72,036,900 (GRCm39) |
G379S |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,187,824 (GRCm39) |
E505G |
probably benign |
Het |
| Snrpe |
A |
C |
1: 133,537,518 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,535,568 (GRCm39) |
S3942G |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,644,948 (GRCm39) |
V12969A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,946,487 (GRCm39) |
Q108R |
probably benign |
Het |
| Wnk4 |
A |
T |
11: 101,154,695 (GRCm39) |
I295F |
probably damaging |
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 |
|
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 |
|
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'- GGTTTACCCTCACTATTTGGAATAG -3'
(R):5'- AGACATGGTATGCCCTAAGTTTTC -3'
Sequencing Primer
(F):5'- CTAAGTGAGGTTCTGGGTTATCC -3'
(R):5'- CATGGTATGCCCTAAGTTTTCTTTAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation