Incidental Mutation 'R0892:Sbsn'
| ID |
83532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbsn
|
| Ensembl Gene |
ENSMUSG00000046056 |
| Gene Name |
suprabasin |
| Synonyms |
1110005D19Rik |
| MMRRC Submission |
039055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30450896-30455559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30454244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 50
(Q50L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080518]
[ENSMUST00000182227]
[ENSMUST00000182229]
[ENSMUST00000182721]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080518
AA Change: Q640L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: Q640L
| 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 |
possibly damaging
Transcript: ENSMUST00000182227
AA Change: Q50L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138427
Gene: ENSMUSG00000046056
AA Change: Q50L
| 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
AA Change: Q122L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138561
Gene: ENSMUSG00000046056
AA Change: Q122L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182488
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182577
|
| SMART Domains |
Protein: ENSMUSP00000138367
Gene: ENSMUSG00000046056
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182721
AA Change: Q134L
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138654
Gene: ENSMUSG00000046056
AA Change: Q134L
| 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: 99.5%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,305 (GRCm39) |
V2684E |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,597,800 (GRCm39) |
R57G |
probably benign |
Het |
| Bcr |
C |
T |
10: 74,960,895 (GRCm39) |
A442V |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,764,920 (GRCm39) |
T226A |
possibly damaging |
Het |
| Dmkn |
C |
T |
7: 30,466,829 (GRCm39) |
R114C |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,911,758 (GRCm39) |
N348I |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,011,843 (GRCm39) |
I830N |
possibly damaging |
Het |
| Gm15737 |
C |
T |
6: 92,856,721 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,985,211 (GRCm39) |
N182S |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,688,206 (GRCm39) |
I297N |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,376,585 (GRCm39) |
K56E |
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,208,000 (GRCm39) |
H96Y |
possibly damaging |
Het |
| Mapre2 |
A |
G |
18: 23,991,200 (GRCm39) |
N189S |
probably benign |
Het |
| Msmo1 |
T |
A |
8: 65,175,587 (GRCm39) |
I148F |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,184,511 (GRCm39) |
T1607A |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,923,069 (GRCm39) |
T445S |
probably benign |
Het |
| Or5b122 |
T |
A |
19: 13,562,881 (GRCm39) |
V28D |
probably damaging |
Het |
| Plag1 |
G |
A |
4: 3,904,532 (GRCm39) |
Q220* |
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,166,644 (GRCm39) |
E305G |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,429,033 (GRCm39) |
|
probably null |
Het |
| Slc25a42 |
A |
G |
8: 70,644,597 (GRCm39) |
L34P |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,092,201 (GRCm39) |
R521S |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,011,724 (GRCm39) |
V394E |
probably benign |
Het |
| Tatdn3 |
T |
C |
1: 190,795,002 (GRCm39) |
D18G |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,964,665 (GRCm39) |
|
probably null |
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 |
|
|
PIT4687001:Sbsn
|
UTSW |
7 |
30,452,391 (GRCm39) |
intron |
probably benign |
|
|
R0427:Sbsn
|
UTSW |
7 |
30,451,523 (GRCm39) |
intron |
probably benign |
|
|
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'- TCTAAGGATCATGAGTGAGGAGCCC -3'
(R):5'- CCAACAGGATGCTGACTGCAAGAAG -3'
Sequencing Primer
(F):5'- AGGAGCCCTGTGGTTTAGC -3'
(R):5'- TGGGGATTATGCAGCACTCAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation