Incidental Mutation 'R3933:Sp100'
| ID |
308537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp100
|
| Ensembl Gene |
ENSMUSG00000026222 |
| Gene Name |
nuclear antigen Sp100 |
| Synonyms |
A430075G10Rik |
| MMRRC Submission |
040920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R3933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85577709-85637719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85608830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 320
(I320V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054279]
[ENSMUST00000066427]
[ENSMUST00000145440]
[ENSMUST00000147552]
[ENSMUST00000150967]
[ENSMUST00000153574]
[ENSMUST00000155094]
|
| AlphaFold |
O35892 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054279
AA Change: I320V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222
AA Change: I320V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
19 |
122 |
4.9e-47 |
PFAM |
|
low complexity region
|
334 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066427
AA Change: I320V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: I320V
| 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 |
noncoding transcript
Transcript: ENSMUST00000129951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145440
|
| SMART Domains |
Protein: ENSMUSP00000120604
Gene: ENSMUSG00000026222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
19 |
122 |
3.7e-47 |
PFAM |
|
| 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
AA Change: I320V
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: I320V
| 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
AA Change: I320V
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: I320V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,304,856 (GRCm39) |
F3350L |
probably damaging |
Het |
| Acp6 |
T |
C |
3: 97,073,499 (GRCm39) |
V146A |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,749 (GRCm39) |
I630V |
probably benign |
Het |
| Astn2 |
G |
A |
4: 66,322,192 (GRCm39) |
R136C |
unknown |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| C1rl |
T |
A |
6: 124,485,781 (GRCm39) |
L384* |
probably null |
Het |
| Ccdc6 |
TCCGCCGCCGCC |
TCCGCCGCC |
10: 70,025,000 (GRCm39) |
|
probably benign |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,207,016 (GRCm39) |
M643K |
probably benign |
Het |
| Fut8 |
A |
C |
12: 77,522,033 (GRCm39) |
K557N |
probably damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,597,274 (GRCm39) |
Y88H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,622,498 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,566 (GRCm39) |
|
probably null |
Het |
| Mei1 |
A |
G |
15: 81,967,353 (GRCm39) |
K310E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,292,601 (GRCm39) |
V438A |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,300 (GRCm39) |
Y232H |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,106 (GRCm39) |
I212F |
probably benign |
Het |
| Parp2 |
G |
A |
14: 51,056,844 (GRCm39) |
V323M |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,979,314 (GRCm39) |
S161P |
probably benign |
Het |
| Pold3 |
T |
C |
7: 99,770,608 (GRCm39) |
E8G |
probably damaging |
Het |
| Pomt1 |
G |
A |
2: 32,135,631 (GRCm39) |
V332I |
probably benign |
Het |
| Ppp2ca |
T |
A |
11: 52,010,089 (GRCm39) |
N232K |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,101,318 (GRCm39) |
D2274V |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,835,950 (GRCm39) |
V464I |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Scai |
A |
T |
2: 38,965,064 (GRCm39) |
D593E |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 87,094,422 (GRCm39) |
T366A |
probably benign |
Het |
| Syngr2 |
C |
A |
11: 117,704,243 (GRCm39) |
P206Q |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,778,521 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,201,260 (GRCm39) |
A415T |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,435 (GRCm39) |
M258V |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,576,872 (GRCm39) |
R561C |
probably damaging |
Het |
| Yju2b |
G |
A |
8: 84,986,981 (GRCm39) |
A172V |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
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 |
|
|
R2441:Sp100
|
UTSW |
1 |
85,631,210 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
PCR Primer
(F):5'- TATGCCAGACCCATCAGTCC -3'
(R):5'- TTAAGACCTCAGGGCCCTAG -3'
Sequencing Primer
(F):5'- CAGTCCCTACATATTGAATTCGTGGG -3'
(R):5'- GCCCTAGACGATCATGTGGAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation