Incidental Mutation 'R1388:Sbsn'
ID |
162492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbsn
|
Ensembl Gene |
ENSMUSG00000046056 |
Gene Name |
suprabasin |
Synonyms |
1110005D19Rik |
MMRRC Submission |
039450-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1388 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30450896-30455559 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30451576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 197
(H197L)
|
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 |
probably benign
Transcript: ENSMUST00000080518
AA Change: H197L
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000079362 Gene: ENSMUSG00000046056 AA Change: H197L
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
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 |
|
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 |
|
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'- ATCAACAGTGGCATCGGACACG -3'
(R):5'- GGGTTCCATGACCTAACTTGTCTGC -3'
Sequencing Primer
(F):5'- AATCATCCATCATGGGGTCAG -3'
(R):5'- AAGCATGGTGGGTTCCATGA -3'
|
Posted On |
2014-03-17 |