Incidental Mutation 'PIT4687001:Sbsn'
ID |
556187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbsn
|
Ensembl Gene |
ENSMUSG00000046056 |
Gene Name |
suprabasin |
Synonyms |
1110005D19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
PIT4687001 (G1)
|
Quality Score |
173.492 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30450896-30455559 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA to GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA
at 30452391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138654
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080518]
[ENSMUST00000182227]
[ENSMUST00000182229]
[ENSMUST00000182721]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080518
|
SMART Domains |
Protein: ENSMUSP00000079362 Gene: ENSMUSG00000046056
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
internal_repeat_2
|
27 |
208 |
2.58e-16 |
PROSPERO |
internal_repeat_1
|
39 |
233 |
7e-25 |
PROSPERO |
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
low complexity region
|
313 |
325 |
N/A |
INTRINSIC |
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
internal_repeat_2
|
380 |
568 |
2.58e-16 |
PROSPERO |
internal_repeat_1
|
446 |
626 |
7e-25 |
PROSPERO |
low complexity region
|
637 |
651 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182227
|
SMART Domains |
Protein: ENSMUSP00000138427 Gene: ENSMUSG00000046056
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
47 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182229
|
SMART Domains |
Protein: ENSMUSP00000138561 Gene: ENSMUSG00000046056
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
114 |
135 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182721
|
SMART Domains |
Protein: ENSMUSP00000138654 Gene: ENSMUSG00000046056
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
internal_repeat_1
|
26 |
68 |
1.41e-7 |
PROSPERO |
internal_repeat_1
|
84 |
126 |
1.41e-7 |
PROSPERO |
low complexity region
|
128 |
145 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
Other mutations in Sbsn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01479:Sbsn
|
APN |
7 |
30,451,782 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02649:Sbsn
|
APN |
7 |
30,452,683 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03154:Sbsn
|
APN |
7 |
30,451,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4495001:Sbsn
|
UTSW |
7 |
30,452,391 (GRCm39) |
intron |
probably benign |
|
R0427:Sbsn
|
UTSW |
7 |
30,451,523 (GRCm39) |
intron |
probably benign |
|
R0892:Sbsn
|
UTSW |
7 |
30,454,244 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1129:Sbsn
|
UTSW |
7 |
30,452,865 (GRCm39) |
missense |
probably benign |
|
R1388:Sbsn
|
UTSW |
7 |
30,451,576 (GRCm39) |
missense |
probably benign |
0.09 |
R1437:Sbsn
|
UTSW |
7 |
30,452,478 (GRCm39) |
nonsense |
probably null |
|
R2436:Sbsn
|
UTSW |
7 |
30,451,655 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4020:Sbsn
|
UTSW |
7 |
30,455,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5485:Sbsn
|
UTSW |
7 |
30,452,542 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5890:Sbsn
|
UTSW |
7 |
30,452,692 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6616:Sbsn
|
UTSW |
7 |
30,452,704 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6969:Sbsn
|
UTSW |
7 |
30,452,616 (GRCm39) |
missense |
probably benign |
|
R7302:Sbsn
|
UTSW |
7 |
30,451,309 (GRCm39) |
missense |
probably benign |
0.34 |
R7455:Sbsn
|
UTSW |
7 |
30,452,602 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8225:Sbsn
|
UTSW |
7 |
30,451,869 (GRCm39) |
missense |
probably benign |
0.00 |
R8225:Sbsn
|
UTSW |
7 |
30,451,419 (GRCm39) |
intron |
probably benign |
|
R8330:Sbsn
|
UTSW |
7 |
30,451,366 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8692:Sbsn
|
UTSW |
7 |
30,451,522 (GRCm39) |
missense |
unknown |
|
R8815:Sbsn
|
UTSW |
7 |
30,454,227 (GRCm39) |
splice site |
probably benign |
|
R9212:Sbsn
|
UTSW |
7 |
30,452,427 (GRCm39) |
missense |
probably benign |
0.00 |
R9622:Sbsn
|
UTSW |
7 |
30,452,067 (GRCm39) |
intron |
probably benign |
|
R9697:Sbsn
|
UTSW |
7 |
30,452,391 (GRCm39) |
intron |
probably benign |
|
Z1088:Sbsn
|
UTSW |
7 |
30,451,176 (GRCm39) |
nonsense |
probably null |
|
Z1177:Sbsn
|
UTSW |
7 |
30,451,755 (GRCm39) |
missense |
probably benign |
0.23 |
Z1186:Sbsn
|
UTSW |
7 |
30,452,317 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Sbsn
|
UTSW |
7 |
30,451,273 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCCATGCTGCAAAGGAGG -3'
(R):5'- AACCCAGTTTGGACCCCTTG -3'
Sequencing Primer
(F):5'- AGGCACAGCAGTTTGGTC -3'
(R):5'- TGGTTGACCCCAGTTTGGACAC -3'
|
Posted On |
2019-06-07 |