Incidental Mutation 'R8330:Sbsn'
ID |
644304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbsn
|
Ensembl Gene |
ENSMUSG00000046056 |
Gene Name |
suprabasin |
Synonyms |
1110005D19Rik |
MMRRC Submission |
067799-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R8330 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30450896-30455559 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30451366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 127
(I127N)
|
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: I127N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000079362 Gene: ENSMUSG00000046056 AA Change: I127N
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 damaging
Transcript: ENSMUST00000182721
AA Change: I127N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138654 Gene: ENSMUSG00000046056 AA Change: I127N
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,381,750 (GRCm39) |
D1405V |
probably damaging |
Het |
Acsl6 |
A |
G |
11: 54,236,034 (GRCm39) |
I514V |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,987,026 (GRCm39) |
V2770A |
possibly damaging |
Het |
B4galt1 |
A |
G |
4: 40,812,787 (GRCm39) |
V246A |
probably damaging |
Het |
Cdr2l |
T |
C |
11: 115,284,939 (GRCm39) |
V425A |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,816,501 (GRCm39) |
D1814V |
probably damaging |
Het |
Exoc2 |
A |
G |
13: 31,061,556 (GRCm39) |
V495A |
probably benign |
Het |
Ifi47 |
A |
G |
11: 48,986,637 (GRCm39) |
T135A |
possibly damaging |
Het |
Klhl23 |
T |
C |
2: 69,654,496 (GRCm39) |
V122A |
probably damaging |
Het |
Klri2 |
T |
A |
6: 129,710,694 (GRCm39) |
N142Y |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,509,692 (GRCm39) |
F3161L |
probably null |
Het |
Mgl2 |
A |
G |
11: 70,026,785 (GRCm39) |
T144A |
probably benign |
Het |
Mpp3 |
T |
C |
11: 101,899,453 (GRCm39) |
E356G |
probably benign |
Het |
Neb |
T |
G |
2: 52,117,420 (GRCm39) |
T872P |
|
Het |
Nek9 |
A |
G |
12: 85,376,727 (GRCm39) |
M218T |
probably damaging |
Het |
Or10a49 |
A |
T |
7: 108,468,046 (GRCm39) |
L105H |
probably damaging |
Het |
Or4f14 |
A |
G |
2: 111,742,724 (GRCm39) |
F184L |
probably benign |
Het |
Or51k2 |
T |
G |
7: 103,596,610 (GRCm39) |
I279S |
possibly damaging |
Het |
Pabpc1l |
G |
A |
2: 163,869,568 (GRCm39) |
G123R |
probably damaging |
Het |
Parp3 |
T |
C |
9: 106,352,069 (GRCm39) |
|
probably null |
Het |
Pcdhga1 |
A |
T |
18: 37,796,376 (GRCm39) |
Y460F |
probably benign |
Het |
Pclo |
A |
G |
5: 14,725,311 (GRCm39) |
T1390A |
unknown |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pex6 |
T |
C |
17: 47,023,060 (GRCm39) |
L212P |
possibly damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Ppib |
T |
C |
9: 65,968,755 (GRCm39) |
F48L |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,793,583 (GRCm39) |
E1228G |
probably benign |
Het |
Ptpdc1 |
G |
T |
13: 48,751,390 (GRCm39) |
H37N |
probably benign |
Het |
Rab31 |
A |
T |
17: 66,003,269 (GRCm39) |
I126N |
possibly damaging |
Het |
Rsad2 |
A |
T |
12: 26,506,405 (GRCm39) |
V5E |
probably benign |
Het |
S1pr3 |
G |
A |
13: 51,573,173 (GRCm39) |
S118N |
probably damaging |
Het |
Scart2 |
C |
T |
7: 139,876,231 (GRCm39) |
Q568* |
probably null |
Het |
Selenoh |
G |
T |
2: 84,500,691 (GRCm39) |
Q50K |
probably damaging |
Het |
Simc1 |
GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
13: 54,673,177 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,841,515 (GRCm39) |
I487L |
probably benign |
Het |
Tep1 |
T |
A |
14: 51,085,162 (GRCm39) |
I874F |
possibly damaging |
Het |
Tmem43 |
T |
C |
6: 91,455,746 (GRCm39) |
V119A |
possibly damaging |
Het |
Vmn2r80 |
T |
A |
10: 79,007,550 (GRCm39) |
W509R |
probably damaging |
Het |
Xpr1 |
A |
C |
1: 155,189,001 (GRCm39) |
Y290* |
probably null |
Het |
Zfp160 |
T |
C |
17: 21,246,313 (GRCm39) |
C288R |
probably damaging |
Het |
Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
probably 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 |
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 |
|
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'- CCCTTGAAGGCATCAATAACGG -3'
(R):5'- CCAAAAGCATGGTGGGTTTC -3'
Sequencing Primer
(F):5'- TAACGGAATCACTCAAGCTGG -3'
(R):5'- CATGGTGGGTTTCATGACCTAAC -3'
|
Posted On |
2020-09-02 |