Incidental Mutation 'R6616:Sbsn'
| ID |
524057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbsn
|
| Ensembl Gene |
ENSMUSG00000046056 |
| Gene Name |
suprabasin |
| Synonyms |
1110005D19Rik |
| MMRRC Submission |
044739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30450896-30455559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30452704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 573
(V573D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079362
(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: V573D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: V573D
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000182686
|
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,603,509 (GRCm39) |
H567L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,958 (GRCm39) |
M525K |
unknown |
Het |
| Alpi |
T |
C |
1: 87,028,836 (GRCm39) |
I74V |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,634 (GRCm39) |
V155L |
possibly damaging |
Het |
| Creb5 |
A |
C |
6: 53,662,295 (GRCm39) |
Q197H |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,306 (GRCm39) |
K225R |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,221 (GRCm39) |
E1143K |
possibly damaging |
Het |
| Eef2kmt |
T |
A |
16: 5,065,346 (GRCm39) |
D287V |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,285,326 (GRCm39) |
Y1046* |
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,743,850 (GRCm39) |
M252K |
probably benign |
Het |
| Fnip2 |
A |
C |
3: 79,388,189 (GRCm39) |
H847Q |
probably benign |
Het |
| Frmd3 |
A |
T |
4: 74,105,725 (GRCm39) |
D457V |
probably damaging |
Het |
| Gm13941 |
T |
G |
2: 110,931,520 (GRCm39) |
E37D |
unknown |
Het |
| Grin1 |
T |
A |
2: 25,182,122 (GRCm39) |
I870F |
possibly damaging |
Het |
| Grin2b |
A |
C |
6: 135,709,549 (GRCm39) |
D1332E |
probably benign |
Het |
| Gtpbp4 |
G |
A |
13: 9,039,141 (GRCm39) |
T201I |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,026,904 (GRCm39) |
C118R |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,651 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,599,008 (GRCm39) |
|
probably null |
Het |
| Hpd |
A |
T |
5: 123,310,123 (GRCm39) |
L367Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,487 (GRCm39) |
I40T |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,295,684 (GRCm39) |
S464P |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,589,643 (GRCm39) |
D75V |
unknown |
Het |
| Map3k4 |
A |
T |
17: 12,490,231 (GRCm39) |
L400Q |
probably damaging |
Het |
| Mcts2 |
T |
A |
2: 152,529,582 (GRCm39) |
I131N |
possibly damaging |
Het |
| Mroh2b |
A |
C |
15: 4,982,764 (GRCm39) |
I1528L |
probably benign |
Het |
| Muc4 |
A |
C |
16: 32,602,378 (GRCm39) |
D3467A |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 63,005,091 (GRCm39) |
C339S |
probably damaging |
Het |
| Ncoa5 |
A |
T |
2: 164,852,483 (GRCm39) |
Y130* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,364 (GRCm39) |
I165N |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,442,868 (GRCm39) |
V98E |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,953 (GRCm39) |
T379A |
probably benign |
Het |
| Pkp4 |
C |
G |
2: 59,180,896 (GRCm39) |
Y720* |
probably null |
Het |
| Prl5a1 |
C |
T |
13: 28,333,839 (GRCm39) |
T114I |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,024,169 (GRCm39) |
S137P |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,994,579 (GRCm39) |
E680K |
possibly damaging |
Het |
| Scaf8 |
A |
T |
17: 3,218,330 (GRCm39) |
L233F |
unknown |
Het |
| Sec23a |
A |
T |
12: 59,043,941 (GRCm39) |
I241K |
possibly damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,610,146 (GRCm39) |
S258T |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,975,427 (GRCm39) |
H121R |
possibly damaging |
Het |
| Sptbn1 |
T |
A |
11: 30,074,030 (GRCm39) |
E1346D |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stpg4 |
A |
G |
17: 87,730,124 (GRCm39) |
Y74H |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,057 (GRCm39) |
V374A |
possibly damaging |
Het |
| Unc45b |
G |
A |
11: 82,802,645 (GRCm39) |
R47Q |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,080 (GRCm39) |
S268P |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,715 (GRCm39) |
I238L |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,843,938 (GRCm39) |
D992G |
possibly damaging |
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 |
|
|
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 |
|
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'- AGTCAACCAGGCTCAAAAGG -3'
(R):5'- CTACATTCAGCAGCTGGTTGG -3'
Sequencing Primer
(F):5'- CCCATGGGGTACAGAATGGAGTC -3'
(R):5'- CAGCTGGTTGGCCTCCTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation