Incidental Mutation 'IGL01082:Sp100'
| ID |
50211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sp100
|
| Ensembl Gene |
ENSMUSG00000026222 |
| Gene Name |
nuclear antigen Sp100 |
| Synonyms |
A430075G10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
IGL01082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
85577709-85637719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85597741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 201
(V201A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054279]
[ENSMUST00000066427]
[ENSMUST00000145440]
[ENSMUST00000147552]
[ENSMUST00000153574]
[ENSMUST00000155094]
[ENSMUST00000150967]
|
| AlphaFold |
O35892 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054279
AA Change: V201A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222
AA Change: V201A
| 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: V201A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: V201A
| 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: ENSMUST00000082480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145440
AA Change: V201A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120604
Gene: ENSMUSG00000026222
AA Change: V201A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
19 |
122 |
3.7e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147552
AA Change: V201A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222
AA Change: V201A
| 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 |
possibly damaging
Transcript: ENSMUST00000153574
AA Change: V201A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: V201A
| 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: V201A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: V201A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150967
AA Change: V201A
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222
AA Change: V201A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,273 (GRCm39) |
S723F |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 16,959,856 (GRCm39) |
S278P |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,411,465 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,102 (GRCm39) |
V350A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,176,849 (GRCm39) |
N399K |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,943 (GRCm39) |
T468A |
probably damaging |
Het |
| Fam110b |
C |
T |
4: 5,799,461 (GRCm39) |
A293V |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,339 (GRCm39) |
T403A |
probably benign |
Het |
| H3c6 |
A |
G |
13: 23,746,548 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,429 (GRCm39) |
V609E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,283 (GRCm39) |
V531I |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,372 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
A |
G |
6: 88,864,859 (GRCm39) |
V539A |
probably benign |
Het |
| Myb |
A |
G |
10: 21,028,843 (GRCm39) |
V85A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,203,976 (GRCm39) |
E102G |
probably damaging |
Het |
| Nr5a2 |
C |
A |
1: 136,773,206 (GRCm39) |
A499S |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,436,933 (GRCm39) |
|
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,161,514 (GRCm39) |
S10R |
probably benign |
Het |
| Or4a47 |
A |
T |
2: 89,674,407 (GRCm39) |
|
probably benign |
Het |
| Or4c11b |
T |
C |
2: 88,625,637 (GRCm39) |
F304L |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,037,372 (GRCm39) |
E1877K |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,778,682 (GRCm39) |
V711A |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,449,860 (GRCm39) |
T120A |
probably benign |
Het |
| Slc26a1 |
G |
T |
5: 108,819,744 (GRCm39) |
T485N |
possibly damaging |
Het |
| Spz1 |
T |
G |
13: 92,712,029 (GRCm39) |
K149T |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,024,940 (GRCm39) |
S553P |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,254,821 (GRCm39) |
S290P |
probably damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,239,026 (GRCm39) |
Y165H |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,933,584 (GRCm39) |
Q2335K |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,234,175 (GRCm39) |
I471T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,472,970 (GRCm39) |
I188V |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,784 (GRCm39) |
L45Q |
probably damaging |
Het |
|
| Other mutations in Sp100 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation