Incidental Mutation 'PIT4458001:Sp100'
ID |
555894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp100
|
Ensembl Gene |
ENSMUSG00000026222 |
Gene Name |
nuclear antigen Sp100 |
Synonyms |
A430075G10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
PIT4458001 (G1)
|
Quality Score |
200.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
85577709-85637719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85635837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 547
(I547M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066427]
[ENSMUST00000132641]
[ENSMUST00000153574]
|
AlphaFold |
O35892 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066427
AA Change: I547M
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000066399 Gene: ENSMUSG00000026222 AA Change: I547M
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: I258M
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000120267 Gene: ENSMUSG00000026222 AA Change: I258M
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 |
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 |
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 73.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,248,304 (GRCm39) |
V2684L |
probably benign |
Het |
Adamts9 |
T |
A |
6: 92,866,886 (GRCm39) |
I718F |
probably damaging |
Het |
Adcyap1r1 |
A |
G |
6: 55,455,067 (GRCm39) |
D110G |
probably benign |
Het |
Adgrd1 |
G |
A |
5: 129,208,641 (GRCm39) |
G281D |
probably damaging |
Het |
Afg1l |
A |
T |
10: 42,330,366 (GRCm39) |
C100* |
probably null |
Het |
Atp2a2 |
G |
A |
5: 122,595,372 (GRCm39) |
Q993* |
probably null |
Het |
Baz1a |
A |
G |
12: 54,977,095 (GRCm39) |
M389T |
probably benign |
Het |
Btnl4 |
T |
A |
17: 34,693,242 (GRCm39) |
M58L |
probably benign |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cpeb1 |
A |
T |
7: 80,998,180 (GRCm39) |
F533Y |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,308,179 (GRCm39) |
N166K |
possibly damaging |
Het |
Ecsit |
T |
C |
9: 21,987,580 (GRCm39) |
H153R |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,162,955 (GRCm39) |
K480E |
probably benign |
Het |
Glyat |
A |
T |
19: 12,625,373 (GRCm39) |
T66S |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,792,124 (GRCm39) |
Q632R |
probably benign |
Het |
Gm12185 |
C |
T |
11: 48,798,738 (GRCm39) |
R585Q |
probably damaging |
Het |
Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
Gm7489 |
A |
C |
15: 53,749,195 (GRCm39) |
E89A |
unknown |
Het |
Grb7 |
C |
T |
11: 98,344,655 (GRCm39) |
Q353* |
probably null |
Het |
Ifi207 |
G |
A |
1: 173,562,738 (GRCm39) |
T136I |
unknown |
Het |
Ighv3-1 |
T |
C |
12: 113,928,224 (GRCm39) |
Y45C |
probably benign |
Het |
Ing5 |
A |
G |
1: 93,739,668 (GRCm39) |
M92V |
possibly damaging |
Het |
Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Lmo7 |
C |
T |
14: 102,124,923 (GRCm39) |
Q583* |
probably null |
Het |
Lrrc37a |
T |
C |
11: 103,395,338 (GRCm39) |
D29G |
probably benign |
Het |
Mpdz |
G |
T |
4: 81,337,263 (GRCm39) |
A10D |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,131,821 (GRCm39) |
M94V |
possibly damaging |
Het |
Nectin2 |
A |
C |
7: 19,472,252 (GRCm39) |
L46V |
probably benign |
Het |
Nynrin |
A |
T |
14: 56,101,425 (GRCm39) |
T365S |
probably benign |
Het |
Or4c120 |
A |
T |
2: 89,000,977 (GRCm39) |
I193K |
probably benign |
Het |
Pde4b |
A |
C |
4: 102,459,875 (GRCm39) |
E570A |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,855,622 (GRCm39) |
H988R |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,763,708 (GRCm39) |
K1234E |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,957,741 (GRCm39) |
M233K |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,577,510 (GRCm39) |
P266S |
unknown |
Het |
Ralgds |
T |
C |
2: 28,432,486 (GRCm39) |
L160P |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,375,237 (GRCm39) |
M664K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,570,334 (GRCm39) |
T4930A |
probably benign |
Het |
Senp8 |
T |
C |
9: 59,644,763 (GRCm39) |
Y131C |
probably damaging |
Het |
Spata20 |
A |
G |
11: 94,375,434 (GRCm39) |
M120T |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,069,664 (GRCm39) |
H604R |
probably benign |
Het |
Sycp1 |
A |
T |
3: 102,842,149 (GRCm39) |
S53T |
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,950,022 (GRCm39) |
D62G |
unknown |
Het |
Trpm1 |
G |
C |
7: 63,918,309 (GRCm39) |
E1434Q |
possibly damaging |
Het |
Tshb |
A |
T |
3: 102,685,480 (GRCm39) |
Y50N |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,126,614 (GRCm39) |
Y413* |
probably null |
Het |
Zdhhc16 |
G |
A |
19: 41,926,209 (GRCm39) |
G55R |
possibly 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 |
|
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 |
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'- GATTATGCTGATAGCCCTGCC -3'
(R):5'- TCTCCACAGGTGAGAAATCAC -3'
Sequencing Primer
(F):5'- ATTATGCTGATAGCCCTGCCTTCTC -3'
(R):5'- ATCACCTGTCTGAAAGTGGAGCC -3'
|
Posted On |
2019-06-07 |