Incidental Mutation 'R7692:Sbno1'
ID |
593444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno1
|
Ensembl Gene |
ENSMUSG00000038095 |
Gene Name |
strawberry notch 1 |
Synonyms |
9330180L10Rik, sno |
MMRRC Submission |
045756-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7692 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 124543709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 277
(T277P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065263]
[ENSMUST00000168651]
[ENSMUST00000196329]
[ENSMUST00000196644]
[ENSMUST00000196711]
[ENSMUST00000197777]
[ENSMUST00000198420]
[ENSMUST00000199808]
[ENSMUST00000199004]
[ENSMUST00000200474]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065263
AA Change: T277P
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066808 Gene: ENSMUSG00000038095 AA Change: T277P
Domain | Start | End | E-Value | Type |
low complexity region
|
217 |
234 |
N/A |
INTRINSIC |
Pfam:AAA_34
|
254 |
559 |
3.6e-144 |
PFAM |
Pfam:ResIII
|
287 |
478 |
2.7e-8 |
PFAM |
low complexity region
|
633 |
649 |
N/A |
INTRINSIC |
low complexity region
|
727 |
748 |
N/A |
INTRINSIC |
low complexity region
|
779 |
797 |
N/A |
INTRINSIC |
low complexity region
|
815 |
838 |
N/A |
INTRINSIC |
coiled coil region
|
839 |
868 |
N/A |
INTRINSIC |
Pfam:Helicase_C_4
|
870 |
1146 |
3.6e-126 |
PFAM |
low complexity region
|
1365 |
1384 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168651
AA Change: T276P
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130860 Gene: ENSMUSG00000038095 AA Change: T276P
Domain | Start | End | E-Value | Type |
low complexity region
|
217 |
234 |
N/A |
INTRINSIC |
Pfam:AAA_34
|
254 |
559 |
3.6e-144 |
PFAM |
Pfam:ResIII
|
287 |
478 |
2.7e-8 |
PFAM |
low complexity region
|
633 |
649 |
N/A |
INTRINSIC |
low complexity region
|
727 |
748 |
N/A |
INTRINSIC |
low complexity region
|
779 |
797 |
N/A |
INTRINSIC |
low complexity region
|
815 |
838 |
N/A |
INTRINSIC |
coiled coil region
|
839 |
868 |
N/A |
INTRINSIC |
Pfam:Helicase_C_4
|
870 |
1146 |
3.6e-126 |
PFAM |
low complexity region
|
1365 |
1384 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196329
AA Change: T242P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143084 Gene: ENSMUSG00000038095 AA Change: T242P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
low complexity region
|
182 |
199 |
N/A |
INTRINSIC |
Pfam:AAA_34
|
217 |
525 |
1.4e-139 |
PFAM |
Pfam:ResIII
|
254 |
441 |
2.4e-8 |
PFAM |
low complexity region
|
598 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196644
AA Change: T277P
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142827 Gene: ENSMUSG00000038095 AA Change: T277P
Domain | Start | End | E-Value | Type |
low complexity region
|
217 |
234 |
N/A |
INTRINSIC |
Pfam:AAA_34
|
252 |
560 |
4.3e-136 |
PFAM |
Pfam:ResIII
|
289 |
476 |
1.8e-6 |
PFAM |
low complexity region
|
633 |
649 |
N/A |
INTRINSIC |
low complexity region
|
727 |
748 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196711
|
SMART Domains |
Protein: ENSMUSP00000142980 Gene: ENSMUSG00000038095
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
low complexity region
|
182 |
199 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198420
|
SMART Domains |
Protein: ENSMUSP00000142416 Gene: ENSMUSG00000038095
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199808
AA Change: T277P
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142481 Gene: ENSMUSG00000038095 AA Change: T277P
Domain | Start | End | E-Value | Type |
low complexity region
|
217 |
234 |
N/A |
INTRINSIC |
Pfam:AAA_34
|
252 |
560 |
6e-139 |
PFAM |
Pfam:ResIII
|
289 |
476 |
1.3e-7 |
PFAM |
low complexity region
|
633 |
649 |
N/A |
INTRINSIC |
low complexity region
|
727 |
748 |
N/A |
INTRINSIC |
low complexity region
|
779 |
797 |
N/A |
INTRINSIC |
low complexity region
|
815 |
838 |
N/A |
INTRINSIC |
coiled coil region
|
839 |
868 |
N/A |
INTRINSIC |
Pfam:Helicase_C_4
|
870 |
1146 |
4.6e-120 |
PFAM |
low complexity region
|
1365 |
1384 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199004
|
SMART Domains |
Protein: ENSMUSP00000143314 Gene: ENSMUSG00000038095
Domain | Start | End | E-Value | Type |
low complexity region
|
217 |
234 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200474
AA Change: T241P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143516 Gene: ENSMUSG00000038095 AA Change: T241P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
low complexity region
|
181 |
198 |
N/A |
INTRINSIC |
Pfam:AAA_34
|
218 |
523 |
2.3e-141 |
PFAM |
Pfam:ResIII
|
251 |
442 |
3.3e-7 |
PFAM |
low complexity region
|
597 |
613 |
N/A |
INTRINSIC |
low complexity region
|
691 |
712 |
N/A |
INTRINSIC |
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
G |
A |
8: 43,973,832 (GRCm39) |
T390I |
probably benign |
Het |
Adgb |
A |
G |
10: 10,287,456 (GRCm39) |
|
probably null |
Het |
Ado |
G |
T |
10: 67,384,265 (GRCm39) |
Y113* |
probably null |
Het |
Angptl1 |
A |
G |
1: 156,672,885 (GRCm39) |
E237G |
probably damaging |
Het |
Arid2 |
T |
A |
15: 96,254,578 (GRCm39) |
Y141* |
probably null |
Het |
Clvs1 |
T |
C |
4: 9,350,739 (GRCm39) |
I183T |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,014,295 (GRCm39) |
K1817E |
probably benign |
Het |
Eif3e |
C |
A |
15: 43,126,642 (GRCm39) |
R271L |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,703,085 (GRCm39) |
V1611A |
probably damaging |
Het |
Enpp3 |
G |
T |
10: 24,660,739 (GRCm39) |
Y634* |
probably null |
Het |
Evi5l |
C |
T |
8: 4,250,886 (GRCm39) |
R394W |
probably damaging |
Het |
Fcgr3 |
A |
C |
1: 170,881,661 (GRCm39) |
F156V |
probably damaging |
Het |
Fmo1 |
T |
A |
1: 162,661,402 (GRCm39) |
T294S |
probably benign |
Het |
Gabrb3 |
A |
G |
7: 57,466,203 (GRCm39) |
Q339R |
probably damaging |
Het |
Gen1 |
T |
A |
12: 11,292,167 (GRCm39) |
T606S |
probably benign |
Het |
Gfod1 |
T |
C |
13: 43,354,528 (GRCm39) |
Q149R |
probably benign |
Het |
Golm1 |
A |
G |
13: 59,788,071 (GRCm39) |
V276A |
probably benign |
Het |
Hc |
C |
A |
2: 34,914,161 (GRCm39) |
V849F |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,459,627 (GRCm39) |
I832T |
possibly damaging |
Het |
Hspa14 |
T |
C |
2: 3,497,643 (GRCm39) |
D283G |
probably damaging |
Het |
Lztfl1 |
C |
T |
9: 123,541,536 (GRCm39) |
W94* |
probably null |
Het |
Lzts3 |
T |
C |
2: 130,477,306 (GRCm39) |
S381G |
probably benign |
Het |
Mgat2 |
A |
G |
12: 69,231,444 (GRCm39) |
Y6C |
probably damaging |
Het |
Mrpl30 |
T |
C |
1: 37,934,439 (GRCm39) |
I27T |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,406,966 (GRCm39) |
T1045S |
unknown |
Het |
Nlrp4a |
G |
A |
7: 26,148,690 (GRCm39) |
R99Q |
probably benign |
Het |
Or10g1 |
T |
C |
14: 52,647,945 (GRCm39) |
Y128C |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,006 (GRCm39) |
T18A |
possibly damaging |
Het |
Phlpp1 |
T |
C |
1: 106,209,132 (GRCm39) |
L495P |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,109,776 (GRCm39) |
D178G |
possibly damaging |
Het |
Prl5a1 |
C |
G |
13: 28,333,997 (GRCm39) |
L167V |
probably damaging |
Het |
Sardh |
A |
G |
2: 27,087,651 (GRCm39) |
V740A |
probably benign |
Het |
Slc2a1 |
T |
C |
4: 118,993,462 (GRCm39) |
V433A |
probably damaging |
Het |
Slc4a10 |
T |
C |
2: 62,134,308 (GRCm39) |
V1008A |
possibly damaging |
Het |
Smarcal1 |
T |
G |
1: 72,625,179 (GRCm39) |
S109A |
probably benign |
Het |
Speg |
A |
G |
1: 75,377,834 (GRCm39) |
D864G |
probably benign |
Het |
Steap4 |
T |
C |
5: 8,026,976 (GRCm39) |
I313T |
probably benign |
Het |
Tab2 |
A |
T |
10: 7,786,869 (GRCm39) |
D614E |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,610 (GRCm39) |
K2246E |
probably damaging |
Het |
Timm23 |
A |
G |
14: 31,902,520 (GRCm39) |
S208P |
probably damaging |
Het |
Tmem229a |
C |
A |
6: 24,955,211 (GRCm39) |
C181F |
probably benign |
Het |
Ugdh |
T |
C |
5: 65,574,958 (GRCm39) |
Y356C |
probably damaging |
Het |
Ugt2a1 |
A |
G |
5: 87,634,586 (GRCm39) |
L7P |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,619,905 (GRCm39) |
D272G |
possibly damaging |
Het |
Vmn1r206 |
T |
A |
13: 22,804,827 (GRCm39) |
I127F |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,505,490 (GRCm39) |
Y68C |
possibly damaging |
Het |
Zfand6 |
G |
A |
7: 84,283,141 (GRCm39) |
P72L |
not run |
Het |
|
Other mutations in Sbno1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00563:Sbno1
|
APN |
5 |
124,540,268 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01154:Sbno1
|
APN |
5 |
124,548,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01309:Sbno1
|
APN |
5 |
124,519,769 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01330:Sbno1
|
APN |
5 |
124,530,042 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Sbno1
|
APN |
5 |
124,516,618 (GRCm39) |
splice site |
probably benign |
|
IGL01800:Sbno1
|
APN |
5 |
124,519,568 (GRCm39) |
splice site |
probably benign |
|
IGL01987:Sbno1
|
APN |
5 |
124,542,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02178:Sbno1
|
APN |
5 |
124,538,258 (GRCm39) |
splice site |
probably null |
|
IGL02544:Sbno1
|
APN |
5 |
124,542,046 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02572:Sbno1
|
APN |
5 |
124,519,740 (GRCm39) |
splice site |
probably benign |
|
IGL02592:Sbno1
|
APN |
5 |
124,538,872 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03033:Sbno1
|
APN |
5 |
124,514,213 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03089:Sbno1
|
APN |
5 |
124,525,374 (GRCm39) |
splice site |
probably benign |
|
IGL03131:Sbno1
|
APN |
5 |
124,526,668 (GRCm39) |
missense |
probably damaging |
1.00 |
Decrement
|
UTSW |
5 |
124,538,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Sbno1
|
UTSW |
5 |
124,522,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R0217:Sbno1
|
UTSW |
5 |
124,542,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0233:Sbno1
|
UTSW |
5 |
124,514,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:Sbno1
|
UTSW |
5 |
124,514,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R0334:Sbno1
|
UTSW |
5 |
124,524,931 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0401:Sbno1
|
UTSW |
5 |
124,548,348 (GRCm39) |
missense |
probably damaging |
0.96 |
R0608:Sbno1
|
UTSW |
5 |
124,522,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R0615:Sbno1
|
UTSW |
5 |
124,548,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0653:Sbno1
|
UTSW |
5 |
124,524,955 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0655:Sbno1
|
UTSW |
5 |
124,514,212 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1037:Sbno1
|
UTSW |
5 |
124,531,975 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1439:Sbno1
|
UTSW |
5 |
124,522,523 (GRCm39) |
splice site |
probably benign |
|
R1522:Sbno1
|
UTSW |
5 |
124,530,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1590:Sbno1
|
UTSW |
5 |
124,522,567 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1618:Sbno1
|
UTSW |
5 |
124,542,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R1671:Sbno1
|
UTSW |
5 |
124,530,130 (GRCm39) |
splice site |
probably null |
|
R1779:Sbno1
|
UTSW |
5 |
124,526,580 (GRCm39) |
unclassified |
probably benign |
|
R2103:Sbno1
|
UTSW |
5 |
124,532,000 (GRCm39) |
missense |
probably damaging |
0.98 |
R2136:Sbno1
|
UTSW |
5 |
124,525,597 (GRCm39) |
splice site |
probably null |
|
R2149:Sbno1
|
UTSW |
5 |
124,540,182 (GRCm39) |
splice site |
probably null |
|
R2153:Sbno1
|
UTSW |
5 |
124,516,606 (GRCm39) |
missense |
probably benign |
|
R2154:Sbno1
|
UTSW |
5 |
124,516,574 (GRCm39) |
missense |
probably benign |
|
R2231:Sbno1
|
UTSW |
5 |
124,543,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R2879:Sbno1
|
UTSW |
5 |
124,526,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R3004:Sbno1
|
UTSW |
5 |
124,519,771 (GRCm39) |
missense |
probably damaging |
0.96 |
R3922:Sbno1
|
UTSW |
5 |
124,519,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R4061:Sbno1
|
UTSW |
5 |
124,526,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R4096:Sbno1
|
UTSW |
5 |
124,529,983 (GRCm39) |
critical splice donor site |
probably null |
|
R4612:Sbno1
|
UTSW |
5 |
124,542,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R4879:Sbno1
|
UTSW |
5 |
124,542,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Sbno1
|
UTSW |
5 |
124,512,672 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4990:Sbno1
|
UTSW |
5 |
124,538,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R5341:Sbno1
|
UTSW |
5 |
124,546,538 (GRCm39) |
critical splice donor site |
probably null |
|
R5365:Sbno1
|
UTSW |
5 |
124,519,929 (GRCm39) |
frame shift |
probably null |
|
R5399:Sbno1
|
UTSW |
5 |
124,530,804 (GRCm39) |
missense |
probably benign |
0.09 |
R5704:Sbno1
|
UTSW |
5 |
124,533,956 (GRCm39) |
critical splice donor site |
probably null |
|
R5898:Sbno1
|
UTSW |
5 |
124,524,854 (GRCm39) |
intron |
probably benign |
|
R6136:Sbno1
|
UTSW |
5 |
124,516,554 (GRCm39) |
missense |
probably benign |
0.41 |
R6154:Sbno1
|
UTSW |
5 |
124,516,542 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6412:Sbno1
|
UTSW |
5 |
124,530,777 (GRCm39) |
missense |
probably damaging |
0.99 |
R6414:Sbno1
|
UTSW |
5 |
124,533,994 (GRCm39) |
missense |
probably benign |
0.28 |
R6454:Sbno1
|
UTSW |
5 |
124,538,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7085:Sbno1
|
UTSW |
5 |
124,519,783 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7176:Sbno1
|
UTSW |
5 |
124,530,944 (GRCm39) |
missense |
probably benign |
0.21 |
R7219:Sbno1
|
UTSW |
5 |
124,543,722 (GRCm39) |
missense |
probably benign |
0.00 |
R7535:Sbno1
|
UTSW |
5 |
124,551,342 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7673:Sbno1
|
UTSW |
5 |
124,551,279 (GRCm39) |
missense |
probably benign |
|
R7745:Sbno1
|
UTSW |
5 |
124,530,962 (GRCm39) |
missense |
probably benign |
0.00 |
R7762:Sbno1
|
UTSW |
5 |
124,512,729 (GRCm39) |
missense |
probably benign |
0.19 |
R8012:Sbno1
|
UTSW |
5 |
124,522,565 (GRCm39) |
missense |
probably benign |
0.43 |
R8142:Sbno1
|
UTSW |
5 |
124,546,608 (GRCm39) |
missense |
probably benign |
|
R8164:Sbno1
|
UTSW |
5 |
124,512,684 (GRCm39) |
missense |
probably benign |
0.13 |
R8259:Sbno1
|
UTSW |
5 |
124,519,759 (GRCm39) |
missense |
probably damaging |
0.99 |
R8289:Sbno1
|
UTSW |
5 |
124,542,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Sbno1
|
UTSW |
5 |
124,512,618 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9045:Sbno1
|
UTSW |
5 |
124,543,720 (GRCm39) |
missense |
probably benign |
0.14 |
R9149:Sbno1
|
UTSW |
5 |
124,519,762 (GRCm39) |
missense |
probably benign |
0.01 |
R9529:Sbno1
|
UTSW |
5 |
124,517,413 (GRCm39) |
nonsense |
probably null |
|
Z1088:Sbno1
|
UTSW |
5 |
124,542,367 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Sbno1
|
UTSW |
5 |
124,532,021 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGCTGGTGCACCTTCTCTTTT -3'
(R):5'- TTCTGTCAAAAGACAAAGAATGTACT -3'
Sequencing Primer
(F):5'- AATAACTCTCGCCTGAGGTG -3'
(R):5'- ACTATCTTGTAATAAGCCTGGAAATG -3'
|
Posted On |
2019-11-12 |