Incidental Mutation 'IGL01998:Sp100'
| ID |
182957 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sp100
|
| Ensembl Gene |
ENSMUSG00000026222 |
| Gene Name |
nuclear antigen Sp100 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.377)
|
| Stock # |
IGL01998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
85649988-85709998 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85666929 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 170
(D170G)
|
| 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: D170G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222
AA Change: D170G
| 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: D170G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: D170G
| 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: ENSMUST00000141998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145440
AA Change: D170G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120604
Gene: ENSMUSG00000026222
AA Change: D170G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
19 |
122 |
3.7e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147552
AA Change: D170G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222
AA Change: D170G
| 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
AA Change: D170G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222
AA Change: D170G
| 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: D170G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: D170G
| 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: D170G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: D170G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110043O21Rik |
A |
T |
4: 35,194,179 (GRCm38) |
D205E |
probably benign |
Het |
| 4930435E12Rik |
A |
T |
16: 38,828,224 (GRCm38) |
D174E |
probably benign |
Het |
| 4932438A13Rik |
T |
C |
3: 36,957,016 (GRCm38) |
S1788P |
possibly damaging |
Het |
| Arpc3 |
T |
C |
5: 122,403,407 (GRCm38) |
C78R |
probably damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,886,066 (GRCm38) |
|
probably null |
Het |
| B3gnt8 |
A |
G |
7: 25,628,778 (GRCm38) |
Y211C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,579,885 (GRCm38) |
I736T |
probably benign |
Het |
| Bpifb9a |
T |
C |
2: 154,268,200 (GRCm38) |
|
probably null |
Het |
| C3ar1 |
A |
T |
6: 122,850,940 (GRCm38) |
M106K |
probably damaging |
Het |
| Cab39l |
T |
A |
14: 59,496,895 (GRCm38) |
L21Q |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,303,043 (GRCm38) |
I166F |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,705,214 (GRCm38) |
E256G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,958,126 (GRCm38) |
T519A |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,458,663 (GRCm38) |
L233Q |
probably damaging |
Het |
| Crlf3 |
G |
A |
11: 80,058,019 (GRCm38) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 32,945,151 (GRCm38) |
|
probably benign |
Het |
| Drc7 |
T |
A |
8: 95,059,193 (GRCm38) |
C226S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,084,734 (GRCm38) |
D807V |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,296,195 (GRCm38) |
L1275P |
probably benign |
Het |
| Fv1 |
T |
C |
4: 147,869,327 (GRCm38) |
C117R |
possibly damaging |
Het |
| Ighg2b |
C |
A |
12: 113,307,089 (GRCm38) |
M140I |
unknown |
Het |
| Klra5 |
A |
T |
6: 129,906,713 (GRCm38) |
Y60* |
probably null |
Het |
| Lmtk2 |
C |
T |
5: 144,176,065 (GRCm38) |
T1201I |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,173,115 (GRCm38) |
S917T |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,169,933 (GRCm38) |
L1230H |
probably damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,353 (GRCm38) |
I708N |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,143,106 (GRCm38) |
D1899V |
probably damaging |
Het |
| Npepl1 |
T |
A |
2: 174,116,200 (GRCm38) |
|
probably benign |
Het |
| Nps |
T |
A |
7: 135,268,752 (GRCm38) |
|
probably benign |
Het |
| Nrg1 |
T |
C |
8: 31,918,134 (GRCm38) |
S24G |
probably damaging |
Het |
| Olfr330 |
A |
T |
11: 58,529,577 (GRCm38) |
Y136* |
probably null |
Het |
| Olfr352 |
A |
G |
2: 36,869,646 (GRCm38) |
N27D |
probably benign |
Het |
| Olfr698 |
G |
A |
7: 106,752,551 (GRCm38) |
T279M |
possibly damaging |
Het |
| Olfr730 |
C |
A |
14: 50,186,648 (GRCm38) |
V190L |
probably benign |
Het |
| Pigx |
G |
T |
16: 32,084,610 (GRCm38) |
T211K |
probably benign |
Het |
| Pink1 |
A |
G |
4: 138,320,742 (GRCm38) |
I223T |
probably damaging |
Het |
| Plat |
G |
A |
8: 22,767,147 (GRCm38) |
A15T |
probably benign |
Het |
| Ptges2 |
G |
A |
2: 32,401,530 (GRCm38) |
A310T |
possibly damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,194,645 (GRCm38) |
S306P |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,660,096 (GRCm38) |
K316E |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,609,676 (GRCm38) |
I1708T |
probably damaging |
Het |
| Sdk2 |
A |
T |
11: 113,838,532 (GRCm38) |
F1073Y |
probably damaging |
Het |
| Spock1 |
A |
T |
13: 57,436,181 (GRCm38) |
|
probably benign |
Het |
| Strbp |
A |
G |
2: 37,625,285 (GRCm38) |
L243P |
probably damaging |
Het |
| Tgm5 |
T |
A |
2: 121,052,439 (GRCm38) |
T446S |
probably damaging |
Het |
| Tmem59l |
C |
T |
8: 70,484,781 (GRCm38) |
V239I |
probably benign |
Het |
| Trav8-1 |
A |
T |
14: 53,470,205 (GRCm38) |
T101S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,141,313 (GRCm38) |
D27G |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,615,300 (GRCm38) |
E785G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,955,068 (GRCm38) |
|
probably null |
Het |
| Wwp2 |
C |
T |
8: 107,549,521 (GRCm38) |
R64C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 54,891,818 (GRCm38) |
H1460R |
probably damaging |
Het |
|
| Other mutations in Sp100 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01082:Sp100
|
APN |
1 |
85,670,020 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02192:Sp100
|
APN |
1 |
85,708,001 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02809:Sp100
|
APN |
1 |
85,681,124 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03274:Sp100
|
APN |
1 |
85,707,304 (GRCm38) |
intron |
probably benign |
|
|
PIT4458001:Sp100
|
UTSW |
1 |
85,708,116 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0115:Sp100
|
UTSW |
1 |
85,650,131 (GRCm38) |
splice site |
probably benign |
|
|
R0599:Sp100
|
UTSW |
1 |
85,681,110 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0620:Sp100
|
UTSW |
1 |
85,659,867 (GRCm38) |
splice site |
probably null |
|
|
R0693:Sp100
|
UTSW |
1 |
85,667,005 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0709:Sp100
|
UTSW |
1 |
85,694,281 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0744:Sp100
|
UTSW |
1 |
85,699,744 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0836:Sp100
|
UTSW |
1 |
85,699,744 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1175:Sp100
|
UTSW |
1 |
85,701,420 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1496:Sp100
|
UTSW |
1 |
85,663,521 (GRCm38) |
splice site |
probably benign |
|
|
R1749:Sp100
|
UTSW |
1 |
85,699,636 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2046:Sp100
|
UTSW |
1 |
85,709,065 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2069:Sp100
|
UTSW |
1 |
85,681,142 (GRCm38) |
splice site |
probably null |
|
|
R2441:Sp100
|
UTSW |
1 |
85,703,489 (GRCm38) |
unclassified |
probably benign |
|
|
R3933:Sp100
|
UTSW |
1 |
85,681,109 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4171:Sp100
|
UTSW |
1 |
85,706,841 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4762:Sp100
|
UTSW |
1 |
85,701,458 (GRCm38) |
makesense |
probably null |
|
|
R4863:Sp100
|
UTSW |
1 |
85,705,003 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5156:Sp100
|
UTSW |
1 |
85,673,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5273:Sp100
|
UTSW |
1 |
85,709,104 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5635:Sp100
|
UTSW |
1 |
85,682,264 (GRCm38) |
intron |
probably benign |
|
|
R5810:Sp100
|
UTSW |
1 |
85,665,285 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5910:Sp100
|
UTSW |
1 |
85,681,140 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5931:Sp100
|
UTSW |
1 |
85,679,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7466:Sp100
|
UTSW |
1 |
85,707,239 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7514:Sp100
|
UTSW |
1 |
85,681,139 (GRCm38) |
nonsense |
probably null |
|
|
R7647:Sp100
|
UTSW |
1 |
85,692,043 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7851:Sp100
|
UTSW |
1 |
85,706,926 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7908:Sp100
|
UTSW |
1 |
85,708,067 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8064:Sp100
|
UTSW |
1 |
85,681,139 (GRCm38) |
nonsense |
probably null |
|
|
R8094:Sp100
|
UTSW |
1 |
85,697,098 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8757:Sp100
|
UTSW |
1 |
85,662,564 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8785:Sp100
|
UTSW |
1 |
85,699,751 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R9382:Sp100
|
UTSW |
1 |
85,699,615 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9453:Sp100
|
UTSW |
1 |
85,701,458 (GRCm38) |
makesense |
probably null |
|
|
R9464:Sp100
|
UTSW |
1 |
85,697,030 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation