Incidental Mutation 'R7085:Sbno1'
ID |
549819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno1
|
Ensembl Gene |
ENSMUSG00000038095 |
Gene Name |
strawberry notch 1 |
Synonyms |
9330180L10Rik, sno |
MMRRC Submission |
045179-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7085 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 124519783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1165
(P1165L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065263]
[ENSMUST00000168651]
[ENSMUST00000199808]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065263
AA Change: P1165L
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000066808 Gene: ENSMUSG00000038095 AA Change: P1165L
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: P1164L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000130860 Gene: ENSMUSG00000038095 AA Change: P1164L
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: ENSMUST00000199808
AA Change: P1165L
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142481 Gene: ENSMUSG00000038095 AA Change: P1165L
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
95% (75/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
C |
10: 29,100,476 (GRCm39) |
L283P |
probably damaging |
Het |
Abhd18 |
T |
C |
3: 40,871,344 (GRCm39) |
M132T |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,881,885 (GRCm39) |
V270A |
possibly damaging |
Het |
Ankrd34a |
A |
T |
3: 96,505,945 (GRCm39) |
Q383L |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,361,835 (GRCm39) |
D627G |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,680,289 (GRCm39) |
C730S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,197,768 (GRCm39) |
S4P |
unknown |
Het |
Blzf1 |
T |
C |
1: 164,129,893 (GRCm39) |
D153G |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,950,318 (GRCm39) |
V516A |
probably benign |
Het |
C1qa |
T |
C |
4: 136,625,091 (GRCm39) |
T20A |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,349,492 (GRCm39) |
|
probably null |
Het |
Cfd |
T |
G |
10: 79,728,326 (GRCm39) |
V229G |
probably damaging |
Het |
Chd3 |
T |
A |
11: 69,260,027 (GRCm39) |
H64L |
unknown |
Het |
Cntn3 |
A |
G |
6: 102,142,362 (GRCm39) |
S1002P |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,055,804 (GRCm39) |
C1786S |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,643,619 (GRCm39) |
D355G |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,056,285 (GRCm39) |
V539A |
possibly damaging |
Het |
Ddx1 |
A |
C |
12: 13,279,356 (GRCm39) |
W428G |
probably damaging |
Het |
Ddx49 |
G |
A |
8: 70,755,133 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,364,468 (GRCm39) |
V4207E |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,779,086 (GRCm39) |
S288P |
probably damaging |
Het |
Drap1 |
G |
A |
19: 5,474,815 (GRCm39) |
|
probably benign |
Het |
Ecm2 |
G |
A |
13: 49,674,378 (GRCm39) |
R266K |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,581,100 (GRCm39) |
L542S |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,293,677 (GRCm39) |
Y282H |
possibly damaging |
Het |
Fbxo44 |
T |
A |
4: 148,243,200 (GRCm39) |
H20L |
probably damaging |
Het |
Flot2 |
G |
T |
11: 77,948,900 (GRCm39) |
A292S |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,362,214 (GRCm39) |
I2161V |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,889,647 (GRCm39) |
F587S |
probably damaging |
Het |
Gm49368 |
A |
G |
7: 127,726,029 (GRCm39) |
D1147G |
unknown |
Het |
Gprc5b |
A |
T |
7: 118,582,855 (GRCm39) |
M338K |
probably damaging |
Het |
H1f11-ps |
A |
G |
19: 47,159,101 (GRCm39) |
V158A |
unknown |
Het |
Hacd3 |
A |
C |
9: 64,905,525 (GRCm39) |
N204K |
probably damaging |
Het |
Hsd3b9 |
T |
C |
3: 98,357,710 (GRCm39) |
N101D |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,962 (GRCm39) |
T4899A |
probably benign |
Het |
Ido2 |
T |
A |
8: 25,048,212 (GRCm39) |
R49S |
probably benign |
Het |
Igsf3 |
C |
A |
3: 101,362,805 (GRCm39) |
T942K |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,668,183 (GRCm39) |
Q88L |
probably benign |
Het |
Krtap16-1 |
T |
A |
11: 99,877,111 (GRCm39) |
I98F |
possibly damaging |
Het |
Laptm4a |
T |
C |
12: 8,972,113 (GRCm39) |
V52A |
probably benign |
Het |
Lmbr1 |
A |
T |
5: 29,566,090 (GRCm39) |
|
probably null |
Het |
Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
Mafa |
G |
T |
15: 75,619,536 (GRCm39) |
A79E |
unknown |
Het |
Me2 |
A |
T |
18: 73,914,129 (GRCm39) |
N467K |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,746,019 (GRCm39) |
L8Q |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,556,145 (GRCm39) |
I3383F |
unknown |
Het |
Nbas |
G |
T |
12: 13,335,259 (GRCm39) |
S151I |
probably damaging |
Het |
Or10ag60 |
T |
A |
2: 87,437,750 (GRCm39) |
I6N |
probably benign |
Het |
Or10d5j |
C |
A |
9: 39,867,808 (GRCm39) |
C141F |
probably damaging |
Het |
Or13c25 |
C |
T |
4: 52,910,961 (GRCm39) |
A278T |
probably benign |
Het |
Or6k6 |
T |
A |
1: 173,945,226 (GRCm39) |
I119F |
probably damaging |
Het |
Or7d11 |
G |
A |
9: 19,966,232 (GRCm39) |
H58Y |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,217,633 (GRCm39) |
V1305A |
|
Het |
Plcb3 |
T |
C |
19: 6,937,501 (GRCm39) |
E639G |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,634,706 (GRCm39) |
L658P |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,571,391 (GRCm39) |
Q658L |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,168,812 (GRCm39) |
R269S |
possibly damaging |
Het |
Reln |
C |
A |
5: 22,120,085 (GRCm39) |
G2856* |
probably null |
Het |
Rsph10b |
A |
T |
5: 143,886,102 (GRCm39) |
T267S |
possibly damaging |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,050 (GRCm39) |
I161V |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn3b |
T |
C |
9: 40,188,394 (GRCm39) |
V29A |
probably damaging |
Het |
Sh3d21 |
T |
A |
4: 126,056,884 (GRCm39) |
T13S |
probably benign |
Het |
Shisal2b |
G |
T |
13: 104,994,814 (GRCm39) |
T111K |
probably benign |
Het |
Slc22a22 |
G |
A |
15: 57,113,045 (GRCm39) |
T398I |
probably benign |
Het |
Slc40a1 |
T |
A |
1: 45,950,688 (GRCm39) |
T255S |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,672,214 (GRCm39) |
|
probably null |
Het |
Soat1 |
A |
T |
1: 156,259,901 (GRCm39) |
V480D |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,722,546 (GRCm39) |
L878P |
possibly damaging |
Het |
Supt5 |
T |
A |
7: 28,030,914 (GRCm39) |
E39V |
unknown |
Het |
Tapbpl |
T |
C |
6: 125,203,451 (GRCm39) |
|
probably null |
Het |
Tdpoz7 |
T |
A |
3: 93,979,939 (GRCm39) |
M5L |
probably benign |
Het |
Tlr11 |
A |
T |
14: 50,600,113 (GRCm39) |
I700F |
probably damaging |
Het |
Tmc3 |
A |
T |
7: 83,271,353 (GRCm39) |
K864M |
possibly damaging |
Het |
Tns1 |
G |
A |
1: 73,964,621 (GRCm39) |
P81S |
probably benign |
Het |
Tspan2 |
C |
A |
3: 102,668,270 (GRCm39) |
L168I |
probably benign |
Het |
Unc13d |
C |
A |
11: 115,955,633 (GRCm39) |
S885I |
probably benign |
Het |
Unc45a |
A |
T |
7: 79,976,082 (GRCm39) |
M799K |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,313,097 (GRCm39) |
D547G |
|
Het |
Vps33b |
A |
G |
7: 79,925,837 (GRCm39) |
I95V |
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 |
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'- GTCAGCTCTGCCCAAATCTTG -3'
(R):5'- GCGCTGTTTCAGTATTTTGCAGAC -3'
Sequencing Primer
(F):5'- AAATCTTGGTTGCTTCCTCCCAG -3'
(R):5'- CTGCAGTTGTTCAGAATGCCAAG -3'
|
Posted On |
2019-05-15 |