Incidental Mutation 'R8064:Sp100'
| ID |
619883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp100
|
| Ensembl Gene |
ENSMUSG00000026222 |
| Gene Name |
nuclear antigen Sp100 |
| Synonyms |
A430075G10Rik |
| MMRRC Submission |
067500-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R8064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
85577709-85637719 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 85608860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 330
(R330*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054279]
[ENSMUST00000066427]
[ENSMUST00000145440]
[ENSMUST00000147552]
[ENSMUST00000150967]
[ENSMUST00000153574]
[ENSMUST00000155094]
|
| AlphaFold |
O35892 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054279
AA Change: R330*
|
| SMART Domains |
Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222
AA Change: R330*
| 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 damaging
Transcript: ENSMUST00000066427
AA Change: R330W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: R330W
| 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: 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: P330S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: P330S
| 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 damaging
Transcript: ENSMUST00000155094
AA Change: R330W
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: R330W
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,171,566 (GRCm39) |
V755D |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,459,637 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
T |
C |
2: 25,166,418 (GRCm39) |
V395A |
probably benign |
Het |
| Apol11b |
A |
G |
15: 77,519,417 (GRCm39) |
V221A |
not run |
Het |
| Arhgef28 |
T |
A |
13: 98,115,002 (GRCm39) |
Y616F |
probably benign |
Het |
| Brdt |
C |
A |
5: 107,525,862 (GRCm39) |
S905* |
probably null |
Het |
| Ccdc54 |
T |
A |
16: 50,410,327 (GRCm39) |
H313L |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,071,115 (GRCm39) |
L530P |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,407 (GRCm39) |
N219K |
probably damaging |
Het |
| Cyp2j5 |
A |
G |
4: 96,546,948 (GRCm39) |
S189P |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,352,155 (GRCm39) |
C86S |
probably benign |
Het |
| Dgkg |
TCTCCT |
TCT |
16: 22,399,344 (GRCm39) |
|
probably null |
Het |
| F11 |
C |
T |
8: 45,698,810 (GRCm39) |
G445S |
probably benign |
Het |
| Fer |
T |
A |
17: 64,214,418 (GRCm39) |
I117N |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 101,039,522 (GRCm39) |
I290F |
probably benign |
Het |
| H2-M10.2 |
C |
T |
17: 36,595,442 (GRCm39) |
V283M |
probably damaging |
Het |
| Hpse |
G |
A |
5: 100,836,766 (GRCm39) |
P408S |
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,296,882 (GRCm39) |
N515K |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,338 (GRCm39) |
L209P |
probably damaging |
Het |
| Igkv16-104 |
A |
T |
6: 68,402,875 (GRCm39) |
Y56F |
possibly damaging |
Het |
| Ins2 |
A |
G |
7: 142,232,553 (GRCm39) |
L77P |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,692,426 (GRCm39) |
M1L |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,946,460 (GRCm39) |
|
probably null |
Het |
| Lysmd4 |
T |
C |
7: 66,873,398 (GRCm39) |
F11S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,353,167 (GRCm39) |
D3625V |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,038,700 (GRCm39) |
E459V |
probably benign |
Het |
| Nsd3 |
A |
T |
8: 26,190,698 (GRCm39) |
K210* |
probably null |
Het |
| Or10ag57 |
C |
T |
2: 87,218,853 (GRCm39) |
T268I |
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,386 (GRCm39) |
F65S |
probably damaging |
Het |
| Or52n4 |
T |
A |
7: 104,294,561 (GRCm39) |
Q6L |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,692,225 (GRCm39) |
N153S |
probably damaging |
Het |
| Rac3 |
T |
A |
11: 120,614,401 (GRCm39) |
V182E |
probably benign |
Het |
| Ripk3 |
T |
G |
14: 56,025,383 (GRCm39) |
E60D |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,429,624 (GRCm39) |
I561N |
possibly damaging |
Het |
| Smad7 |
A |
G |
18: 75,527,153 (GRCm39) |
Y333C |
probably damaging |
Het |
| Snhg11 |
T |
G |
2: 158,218,121 (GRCm39) |
M1R |
probably null |
Het |
| Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
| Spon1 |
T |
A |
7: 113,635,856 (GRCm39) |
I690N |
probably damaging |
Het |
| Taok1 |
G |
A |
11: 77,440,130 (GRCm39) |
R626* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,306,251 (GRCm39) |
G59D |
possibly damaging |
Het |
| Tmem8b |
T |
C |
4: 43,690,139 (GRCm39) |
F399S |
probably damaging |
Het |
| Trank1 |
C |
T |
9: 111,181,144 (GRCm39) |
Q389* |
probably null |
Het |
| Vmn1r33 |
G |
T |
6: 66,588,911 (GRCm39) |
S214R |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
| Vps35l |
T |
C |
7: 118,353,147 (GRCm39) |
I238T |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,749,620 (GRCm39) |
T259I |
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 |
|
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 |
|
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'- GGATCTCCATCCTGACAGAAAAG -3'
(R):5'- GCCCTAGACGATCATGTGGAAC -3'
Sequencing Primer
(F):5'- TCTCCATCCTGACAGAAAAGATCATG -3'
(R):5'- CGATCATGTGGAACAAAGTGAACTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation