Incidental Mutation 'R8259:Sbno1'
ID |
640422 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno1
|
Ensembl Gene |
ENSMUSG00000038095 |
Gene Name |
strawberry notch 1 |
Synonyms |
9330180L10Rik, sno |
MMRRC Submission |
067650-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8259 (G1)
|
Quality Score |
88.0076 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124519759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1173
(V1173E)
|
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 damaging
Transcript: ENSMUST00000065263
AA Change: V1173E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066808 Gene: ENSMUSG00000038095 AA Change: V1173E
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 damaging
Transcript: ENSMUST00000168651
AA Change: V1172E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130860 Gene: ENSMUSG00000038095 AA Change: V1172E
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 damaging
Transcript: ENSMUST00000199808
AA Change: V1173E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142481 Gene: ENSMUSG00000038095 AA Change: V1173E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (82/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
T |
7: 119,939,422 (GRCm39) |
H272L |
probably benign |
Het |
Abcg5 |
T |
G |
17: 84,983,523 (GRCm39) |
T144P |
possibly damaging |
Het |
Adam34 |
G |
A |
8: 44,104,646 (GRCm39) |
S333L |
probably benign |
Het |
Adcy6 |
A |
G |
15: 98,498,919 (GRCm39) |
F294S |
probably damaging |
Het |
Adhfe1 |
A |
G |
1: 9,628,417 (GRCm39) |
N263S |
probably null |
Het |
Aebp2 |
A |
T |
6: 140,583,453 (GRCm39) |
Q309L |
possibly damaging |
Het |
Akap7 |
A |
G |
10: 25,047,054 (GRCm39) |
Y281H |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,606,987 (GRCm39) |
R476G |
probably benign |
Het |
Atg2a |
G |
A |
19: 6,299,859 (GRCm39) |
A588T |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,905,073 (GRCm39) |
T1289A |
probably benign |
Het |
Cacna1d |
A |
G |
14: 29,773,475 (GRCm39) |
S1759P |
probably benign |
Het |
Calcoco1 |
T |
C |
15: 102,624,228 (GRCm39) |
D236G |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,208,077 (GRCm39) |
D470E |
probably benign |
Het |
Capn8 |
G |
T |
1: 182,392,698 (GRCm39) |
V25L |
probably benign |
Het |
Card10 |
A |
G |
15: 78,660,884 (GRCm39) |
V1041A |
probably damaging |
Het |
Ccr1 |
T |
A |
9: 123,764,119 (GRCm39) |
H137L |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,151,435 (GRCm39) |
D2483E |
probably damaging |
Het |
Chd2 |
G |
T |
7: 73,085,532 (GRCm39) |
Q1701K |
probably benign |
Het |
Ckmt2 |
T |
A |
13: 92,007,335 (GRCm39) |
R286S |
probably damaging |
Het |
Clhc1 |
G |
A |
11: 29,503,746 (GRCm39) |
R54Q |
probably benign |
Het |
Cntnap3 |
T |
A |
13: 64,935,681 (GRCm39) |
D394V |
probably damaging |
Het |
Comp |
A |
G |
8: 70,831,704 (GRCm39) |
D441G |
probably damaging |
Het |
Cyp20a1 |
G |
A |
1: 60,391,330 (GRCm39) |
|
probably null |
Het |
Cyp27a1 |
A |
T |
1: 74,771,214 (GRCm39) |
D133V |
probably benign |
Het |
Cyp2a12 |
C |
T |
7: 26,732,083 (GRCm39) |
Q275* |
probably null |
Het |
Dnhd1 |
A |
T |
7: 105,343,995 (GRCm39) |
I1780L |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,580,702 (GRCm39) |
V213A |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,476,458 (GRCm39) |
I283F |
probably damaging |
Het |
Ep300 |
A |
G |
15: 81,523,218 (GRCm39) |
T1281A |
unknown |
Het |
Ercc6l2 |
G |
A |
13: 64,020,285 (GRCm39) |
E803K |
|
Het |
Fat3 |
A |
G |
9: 15,901,887 (GRCm39) |
V3046A |
possibly damaging |
Het |
Fbxw20 |
A |
G |
9: 109,063,763 (GRCm39) |
V3A |
probably benign |
Het |
Fcgr2b |
A |
G |
1: 170,795,702 (GRCm39) |
S76P |
possibly damaging |
Het |
Fgg |
C |
T |
3: 82,917,477 (GRCm39) |
Q169* |
probably null |
Het |
Flnb |
A |
G |
14: 7,889,183 (GRCm38) |
Y511C |
probably damaging |
Het |
Ggt5 |
G |
A |
10: 75,450,666 (GRCm39) |
V558I |
probably benign |
Het |
Gm4779 |
G |
C |
X: 100,837,390 (GRCm39) |
T171S |
possibly damaging |
Het |
Greb1 |
A |
T |
12: 16,774,925 (GRCm39) |
C157* |
probably null |
Het |
Grid2ip |
A |
G |
5: 143,348,344 (GRCm39) |
E145G |
probably benign |
Het |
Hdac11 |
T |
A |
6: 91,149,210 (GRCm39) |
V238E |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,855,638 (GRCm39) |
D3858G |
probably damaging |
Het |
Hoxc4 |
A |
G |
15: 102,943,165 (GRCm39) |
Y6C |
probably damaging |
Het |
Incenp |
A |
G |
19: 9,870,993 (GRCm39) |
L212P |
unknown |
Het |
Incenp |
G |
C |
19: 9,871,005 (GRCm39) |
T208R |
unknown |
Het |
Mctp1 |
T |
A |
13: 76,949,666 (GRCm39) |
|
probably null |
Het |
Megf8 |
T |
C |
7: 25,057,848 (GRCm39) |
M2095T |
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,941,391 (GRCm39) |
V308I |
probably benign |
Het |
Muc1 |
T |
A |
3: 89,139,341 (GRCm39) |
H580Q |
probably damaging |
Het |
Naip6 |
A |
T |
13: 100,452,920 (GRCm39) |
M47K |
probably benign |
Het |
Nectin3 |
C |
T |
16: 46,256,754 (GRCm39) |
R419Q |
probably benign |
Het |
Nlrp4g |
T |
G |
9: 124,353,392 (GRCm38) |
Y579D |
noncoding transcript |
Het |
Nrxn1 |
C |
A |
17: 90,471,249 (GRCm39) |
R1260L |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,100,815 (GRCm39) |
I202V |
possibly damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,847 (GRCm39) |
L130P |
probably damaging |
Het |
Or51e2 |
A |
G |
7: 102,392,034 (GRCm39) |
Y59H |
probably damaging |
Het |
Or5ac17 |
T |
C |
16: 59,036,458 (GRCm39) |
I173V |
probably benign |
Het |
Or5b98 |
T |
C |
19: 12,931,727 (GRCm39) |
M258T |
possibly damaging |
Het |
Pard3 |
G |
A |
8: 128,098,021 (GRCm39) |
W354* |
probably null |
Het |
Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,189,672 (GRCm39) |
R3052G |
unknown |
Het |
Prx |
T |
C |
7: 27,218,808 (GRCm39) |
L1242P |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,707,633 (GRCm39) |
I183T |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,291,755 (GRCm39) |
E254G |
probably benign |
Het |
Ren1 |
C |
T |
1: 133,278,534 (GRCm39) |
R31* |
probably null |
Het |
Rhot2 |
C |
A |
17: 26,058,864 (GRCm39) |
R512L |
probably benign |
Het |
Rpa1 |
T |
C |
11: 75,193,550 (GRCm39) |
N594D |
probably benign |
Het |
Rpp14 |
T |
G |
14: 8,090,526 (GRCm38) |
V150G |
probably null |
Het |
Rxfp2 |
T |
A |
5: 149,983,365 (GRCm39) |
I300K |
probably damaging |
Het |
Scarf1 |
T |
A |
11: 75,414,689 (GRCm39) |
S486T |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,220,928 (GRCm39) |
V455A |
probably damaging |
Het |
Slitrk1 |
A |
G |
14: 109,148,653 (GRCm39) |
V686A |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,721,562 (GRCm39) |
E1206G |
probably benign |
Het |
Ston2 |
A |
T |
12: 91,608,454 (GRCm39) |
I882N |
probably benign |
Het |
Syne2 |
C |
A |
12: 75,996,143 (GRCm39) |
Q2228K |
possibly damaging |
Het |
Tcf20 |
A |
C |
15: 82,736,474 (GRCm39) |
F1659C |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,517,198 (GRCm39) |
G1430S |
probably damaging |
Het |
Tlr12 |
C |
A |
4: 128,511,492 (GRCm39) |
A253S |
probably benign |
Het |
Tmem87a |
A |
G |
2: 120,227,928 (GRCm39) |
F73S |
possibly damaging |
Het |
Trpm1 |
G |
A |
7: 63,918,777 (GRCm39) |
A1590T |
probably benign |
Het |
Usp13 |
C |
T |
3: 32,971,748 (GRCm39) |
Q743* |
probably null |
Het |
Vmn1r184 |
T |
A |
7: 25,966,686 (GRCm39) |
M144K |
probably benign |
Het |
Wee2 |
A |
G |
6: 40,421,114 (GRCm39) |
D68G |
probably benign |
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 |
|
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 |
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'- CCTGCAATGATAAGTAAAAGCCATC -3'
(R):5'- CAGTTGTTCAGAATGCCAAGAAG -3'
Sequencing Primer
(F):5'- CATCATCTGGTCCAGTCAGC -3'
(R):5'- TACGACATGGGAATCCTAGGTG -3'
|
Posted On |
2020-07-28 |