Incidental Mutation 'R5898:Sbno1'
ID |
457645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno1
|
Ensembl Gene |
ENSMUSG00000038095 |
Gene Name |
strawberry notch 1 |
Synonyms |
9330180L10Rik, sno |
MMRRC Submission |
044097-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5898 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 124524854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065263]
[ENSMUST00000168651]
[ENSMUST00000199808]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065263
|
SMART Domains |
Protein: ENSMUSP00000066808 Gene: ENSMUSG00000038095
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: ENSMUST00000168651
|
SMART Domains |
Protein: ENSMUSP00000130860 Gene: ENSMUSG00000038095
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 |
noncoding transcript
Transcript: ENSMUST00000196842
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197228
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199245
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199808
|
SMART Domains |
Protein: ENSMUSP00000142481 Gene: ENSMUSG00000038095
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
96% (86/90) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
G |
T |
10: 100,448,762 (GRCm39) |
R158L |
possibly damaging |
Het |
1700017N19Rik |
G |
A |
10: 100,451,070 (GRCm39) |
M179I |
probably benign |
Het |
Abhd12 |
T |
C |
2: 150,681,698 (GRCm39) |
I231V |
possibly damaging |
Het |
Adsl |
A |
G |
15: 80,845,554 (GRCm39) |
|
probably null |
Het |
Ahnak |
C |
A |
19: 8,991,131 (GRCm39) |
N4138K |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,995,575 (GRCm39) |
S5620P |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,378,894 (GRCm39) |
T2145I |
probably damaging |
Het |
Alpk2 |
T |
A |
18: 65,440,694 (GRCm39) |
Q700L |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,557,732 (GRCm39) |
Y159C |
probably damaging |
Het |
Atg9a |
T |
C |
1: 75,162,916 (GRCm39) |
T395A |
probably damaging |
Het |
Atp6v1f |
A |
G |
6: 29,467,957 (GRCm39) |
I48V |
probably benign |
Het |
BC051665 |
A |
C |
13: 60,930,518 (GRCm39) |
V278G |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,415,201 (GRCm39) |
H638L |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,192 (GRCm39) |
Y460C |
probably damaging |
Het |
Ccdc157 |
C |
A |
11: 4,094,538 (GRCm39) |
R496L |
probably benign |
Het |
Cdcp3 |
T |
G |
7: 130,843,696 (GRCm39) |
|
probably null |
Het |
Cep44 |
C |
G |
8: 56,994,056 (GRCm39) |
V174L |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,722,522 (GRCm39) |
F283L |
possibly damaging |
Het |
Csk |
T |
C |
9: 57,537,585 (GRCm39) |
T110A |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,792,506 (GRCm39) |
|
probably null |
Het |
Cutc |
A |
G |
19: 43,748,468 (GRCm39) |
I124V |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,725 (GRCm39) |
T104A |
probably benign |
Het |
Cyp2j9 |
G |
T |
4: 96,465,951 (GRCm39) |
T294K |
probably benign |
Het |
D630003M21Rik |
T |
A |
2: 158,046,577 (GRCm39) |
|
probably null |
Het |
Dcaf15 |
G |
T |
8: 84,825,081 (GRCm39) |
F450L |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,840,125 (GRCm39) |
I723K |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 118,005,039 (GRCm39) |
A782T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,677,724 (GRCm39) |
D399G |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,148,717 (GRCm39) |
N909S |
probably benign |
Het |
Erbin |
A |
G |
13: 103,975,813 (GRCm39) |
|
probably null |
Het |
Fanci |
G |
A |
7: 79,083,069 (GRCm39) |
V682I |
probably benign |
Het |
Fap |
A |
T |
2: 62,403,847 (GRCm39) |
F9L |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,849,757 (GRCm39) |
I3882V |
probably benign |
Het |
Fkbp15 |
A |
T |
4: 62,244,294 (GRCm39) |
|
probably null |
Het |
Fsd2 |
T |
C |
7: 81,186,975 (GRCm39) |
Y601C |
probably damaging |
Het |
Gm5900 |
T |
C |
7: 104,599,468 (GRCm39) |
|
noncoding transcript |
Het |
Gramd4 |
G |
T |
15: 85,984,985 (GRCm39) |
G82V |
probably damaging |
Het |
Hc |
C |
T |
2: 34,887,449 (GRCm39) |
V1352I |
probably benign |
Het |
Hsph1 |
A |
T |
5: 149,548,623 (GRCm39) |
N466K |
probably damaging |
Het |
Ice2 |
T |
A |
9: 69,315,544 (GRCm39) |
D133E |
probably benign |
Het |
Ifi213 |
T |
C |
1: 173,396,545 (GRCm39) |
M510V |
probably benign |
Het |
Itpkb |
T |
G |
1: 180,248,880 (GRCm39) |
L861R |
probably damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,330,476 (GRCm39) |
D283E |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Masp1 |
T |
A |
16: 23,310,677 (GRCm39) |
I252F |
probably damaging |
Het |
Megf11 |
G |
T |
9: 64,593,246 (GRCm39) |
C586F |
probably damaging |
Het |
Myh2 |
C |
A |
11: 67,083,545 (GRCm39) |
A1476E |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,950,196 (GRCm39) |
|
probably null |
Het |
Naip6 |
A |
T |
13: 100,435,829 (GRCm39) |
V898E |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,512,884 (GRCm39) |
M59V |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,437,678 (GRCm39) |
Y119F |
probably benign |
Het |
Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,490,537 (GRCm39) |
D738E |
possibly damaging |
Het |
Pdia5 |
A |
T |
16: 35,243,335 (GRCm39) |
W269R |
probably damaging |
Het |
Peak1 |
T |
A |
9: 56,114,622 (GRCm39) |
T1440S |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,214,682 (GRCm39) |
V1547A |
probably benign |
Het |
Pkp1 |
T |
C |
1: 135,810,259 (GRCm39) |
Y437C |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,253,104 (GRCm39) |
D1329G |
probably damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,671,887 (GRCm39) |
|
probably benign |
Het |
Prrg4 |
C |
T |
2: 104,675,378 (GRCm39) |
S75N |
probably benign |
Het |
Psmb9 |
T |
A |
17: 34,401,266 (GRCm39) |
I198F |
probably damaging |
Het |
Rcbtb2 |
T |
A |
14: 73,399,405 (GRCm39) |
L23* |
probably null |
Het |
Scn3a |
T |
C |
2: 65,345,039 (GRCm39) |
E483G |
probably damaging |
Het |
Sdccag8 |
T |
A |
1: 176,652,388 (GRCm39) |
D46E |
probably benign |
Het |
Selenov |
A |
G |
7: 27,987,579 (GRCm39) |
F293L |
probably damaging |
Het |
Septin2 |
A |
C |
1: 93,407,023 (GRCm39) |
D20A |
probably benign |
Het |
Shc1 |
T |
A |
3: 89,334,274 (GRCm39) |
Y313* |
probably null |
Het |
Siglec1 |
T |
A |
2: 130,915,553 (GRCm39) |
Y1346F |
probably damaging |
Het |
Slc22a5 |
T |
A |
11: 53,764,559 (GRCm39) |
I296F |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,365,123 (GRCm39) |
N152S |
probably damaging |
Het |
Smoc1 |
C |
T |
12: 81,151,531 (GRCm39) |
R83* |
probably null |
Het |
Ssx2ip |
A |
G |
3: 146,133,586 (GRCm39) |
D227G |
possibly damaging |
Het |
Tbrg4 |
T |
C |
11: 6,567,372 (GRCm39) |
D576G |
probably damaging |
Het |
Tbx20 |
T |
A |
9: 24,670,155 (GRCm39) |
Y226F |
probably damaging |
Het |
Trav10d |
G |
T |
14: 53,048,929 (GRCm39) |
A107S |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,453,016 (GRCm39) |
L411* |
probably null |
Het |
Ttbk2 |
A |
T |
2: 120,575,521 (GRCm39) |
V1083D |
probably benign |
Het |
Unc93a |
T |
A |
17: 13,344,464 (GRCm39) |
Q26L |
probably damaging |
Het |
Usp14 |
T |
A |
18: 10,022,819 (GRCm39) |
N65I |
possibly damaging |
Het |
Vip |
A |
T |
10: 5,593,988 (GRCm39) |
S114C |
probably damaging |
Het |
Vmn1r237 |
A |
T |
17: 21,534,813 (GRCm39) |
I179F |
probably damaging |
Het |
Wdr47 |
T |
A |
3: 108,545,201 (GRCm39) |
|
probably null |
Het |
Zfp975 |
A |
T |
7: 42,311,963 (GRCm39) |
C217S |
probably damaging |
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 |
|
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 |
|
R7692:Sbno1
|
UTSW |
5 |
124,543,709 (GRCm39) |
missense |
probably benign |
0.35 |
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'- TAAGTCGGTCCTGAAGTCTTCTTG -3'
(R):5'- AATGGTGAGCCTGGTTAAAACATC -3'
Sequencing Primer
(F):5'- ACTCAGTTTGTAGACCAGGC -3'
(R):5'- CTCCTATGGTATCACCACCT -3'
|
Posted On |
2017-02-15 |