Incidental Mutation 'R7762:Sbno1'
ID |
597926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno1
|
Ensembl Gene |
ENSMUSG00000038095 |
Gene Name |
strawberry notch 1 |
Synonyms |
9330180L10Rik, sno |
MMRRC Submission |
045818-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7762 (G1)
|
Quality Score |
190.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 124512729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1347
(I1347F)
|
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
AA Change: I1347F
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000066808 Gene: ENSMUSG00000038095 AA Change: I1347F
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
AA Change: I1346F
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130860 Gene: ENSMUSG00000038095 AA Change: I1346F
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: ENSMUST00000199808
AA Change: I1347F
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142481 Gene: ENSMUSG00000038095 AA Change: I1347F
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: 99.2%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
T |
G |
14: 103,288,776 (GRCm39) |
D95E |
probably damaging |
Het |
Agpat4 |
A |
G |
17: 12,429,209 (GRCm39) |
T154A |
possibly damaging |
Het |
Ahnak2 |
A |
T |
12: 112,742,114 (GRCm39) |
S653T |
probably benign |
Het |
Aoc1l2 |
G |
A |
6: 48,909,620 (GRCm39) |
V622I |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,388,263 (GRCm39) |
P1124S |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,928,882 (GRCm39) |
|
probably null |
Het |
Atp4a |
T |
C |
7: 30,419,461 (GRCm39) |
I637T |
probably damaging |
Het |
Atxn7 |
T |
A |
14: 14,100,467 (GRCm38) |
C718S |
probably damaging |
Het |
Btbd2 |
T |
A |
10: 80,479,390 (GRCm39) |
I516F |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,134,820 (GRCm39) |
S128P |
probably benign |
Het |
Cat |
T |
C |
2: 103,287,203 (GRCm39) |
K476E |
probably benign |
Het |
Ccr9 |
A |
T |
9: 123,609,022 (GRCm39) |
T235S |
probably benign |
Het |
Cep55 |
T |
G |
19: 38,057,517 (GRCm39) |
|
probably null |
Het |
Clec2e |
A |
G |
6: 129,072,091 (GRCm39) |
F96S |
possibly damaging |
Het |
Clk2 |
G |
A |
3: 89,074,498 (GRCm39) |
V53I |
probably benign |
Het |
Clnk |
T |
C |
5: 38,925,484 (GRCm39) |
M106V |
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,808,523 (GRCm39) |
I842V |
unknown |
Het |
Csf1r |
A |
T |
18: 61,243,572 (GRCm39) |
N196I |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,770,725 (GRCm39) |
N116K |
|
Het |
Dnaja4 |
A |
G |
9: 54,616,494 (GRCm39) |
I166V |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,038,013 (GRCm39) |
E467G |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,129,719 (GRCm39) |
T1760A |
probably benign |
Het |
Eea1 |
T |
C |
10: 95,864,301 (GRCm39) |
V940A |
probably benign |
Het |
Egr1 |
T |
A |
18: 34,996,598 (GRCm39) |
V460E |
probably damaging |
Het |
Eral1 |
A |
G |
11: 77,965,359 (GRCm39) |
I352T |
possibly damaging |
Het |
F2 |
T |
C |
2: 91,459,041 (GRCm39) |
H476R |
possibly damaging |
Het |
Fam83b |
A |
G |
9: 76,399,714 (GRCm39) |
V463A |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,490,374 (GRCm39) |
L3762H |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,476,359 (GRCm39) |
S1802P |
probably damaging |
Het |
Fibp |
A |
T |
19: 5,514,202 (GRCm39) |
N296Y |
probably benign |
Het |
Figla |
A |
G |
6: 85,994,308 (GRCm39) |
M28V |
probably benign |
Het |
Foxd3 |
C |
A |
4: 99,545,362 (GRCm39) |
Y167* |
probably null |
Het |
Gm17019 |
T |
A |
5: 15,081,006 (GRCm39) |
H145L |
probably benign |
Het |
Gm48552 |
C |
T |
10: 81,226,269 (GRCm39) |
P18L |
probably damaging |
Het |
H2-Q6 |
A |
G |
17: 35,647,077 (GRCm39) |
N283S |
probably benign |
Het |
Hrh2 |
T |
A |
13: 54,368,058 (GRCm39) |
C11* |
probably null |
Het |
Hrnr |
G |
T |
3: 93,239,506 (GRCm39) |
G3248V |
unknown |
Het |
Iapp |
C |
A |
6: 142,249,122 (GRCm39) |
N58K |
possibly damaging |
Het |
Itga5 |
T |
C |
15: 103,258,184 (GRCm39) |
N837S |
probably benign |
Het |
Klhl35 |
C |
A |
7: 99,117,647 (GRCm39) |
H64N |
probably benign |
Het |
Lcor |
T |
C |
19: 41,572,106 (GRCm39) |
L287S |
probably benign |
Het |
Lrba |
T |
A |
3: 86,439,508 (GRCm39) |
V2015E |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,734,421 (GRCm39) |
I3276T |
probably benign |
Het |
Mlh3 |
G |
T |
12: 85,315,058 (GRCm39) |
T376K |
possibly damaging |
Het |
Muc21 |
G |
A |
17: 35,932,977 (GRCm39) |
T403I |
unknown |
Het |
Nbea |
A |
T |
3: 55,557,126 (GRCm39) |
H2550Q |
probably damaging |
Het |
Nid1 |
G |
A |
13: 13,663,630 (GRCm39) |
G763D |
probably damaging |
Het |
Ntf5 |
C |
A |
7: 45,065,243 (GRCm39) |
A125E |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,480,167 (GRCm39) |
C460S |
probably benign |
Het |
Or1j19 |
A |
T |
2: 36,677,022 (GRCm39) |
I162F |
probably benign |
Het |
Or1s2 |
A |
T |
19: 13,758,650 (GRCm39) |
R223W |
probably damaging |
Het |
Or2g7 |
G |
A |
17: 38,378,566 (GRCm39) |
C168Y |
probably damaging |
Het |
Or2y10 |
T |
A |
11: 49,455,588 (GRCm39) |
I280N |
possibly damaging |
Het |
Or4b1b |
T |
A |
2: 90,126,975 (GRCm39) |
K77* |
probably null |
Het |
Or6c33 |
A |
G |
10: 129,853,050 (GRCm39) |
|
probably benign |
Het |
Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
Orai3 |
G |
A |
7: 127,372,743 (GRCm39) |
G130S |
unknown |
Het |
Pcdhb12 |
T |
G |
18: 37,568,977 (GRCm39) |
V41G |
probably damaging |
Het |
Plec |
A |
T |
15: 76,067,823 (GRCm39) |
L1194Q |
unknown |
Het |
Pml |
C |
A |
9: 58,127,456 (GRCm39) |
C763F |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,619,473 (GRCm39) |
I318F |
probably benign |
Het |
Rcbtb2 |
C |
A |
14: 73,415,906 (GRCm39) |
T473N |
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,610,113 (GRCm39) |
D269N |
probably damaging |
Het |
Serpina9 |
A |
T |
12: 103,967,575 (GRCm39) |
F273L |
probably damaging |
Het |
Sgms2 |
T |
A |
3: 131,116,898 (GRCm39) |
Y319F |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,379,531 (GRCm39) |
H1100Q |
probably benign |
Het |
Sh3bp5l |
A |
T |
11: 58,236,754 (GRCm39) |
|
probably null |
Het |
Shh |
T |
G |
5: 28,671,664 (GRCm39) |
K33T |
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,747,371 (GRCm39) |
Y339H |
probably damaging |
Het |
Spice1 |
T |
A |
16: 44,190,864 (GRCm39) |
|
probably null |
Het |
Tbx2 |
A |
G |
11: 85,726,727 (GRCm39) |
E257G |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,914,133 (GRCm39) |
T2468I |
possibly damaging |
Het |
Tmeff2 |
A |
T |
1: 51,018,575 (GRCm39) |
N186Y |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,631,760 (GRCm39) |
V673A |
possibly damaging |
Het |
Trappc11 |
G |
T |
8: 47,975,411 (GRCm39) |
T269K |
probably damaging |
Het |
Trpc6 |
T |
C |
9: 8,653,150 (GRCm39) |
F652S |
possibly damaging |
Het |
Trpv1 |
G |
T |
11: 73,145,048 (GRCm39) |
K711N |
probably benign |
Het |
Vcan |
G |
T |
13: 89,841,056 (GRCm39) |
P1496Q |
probably damaging |
Het |
Vmn1r192 |
G |
T |
13: 22,371,845 (GRCm39) |
A125E |
probably damaging |
Het |
Vti1b |
A |
T |
12: 79,211,720 (GRCm39) |
|
probably null |
Het |
Vwa3b |
A |
C |
1: 37,163,126 (GRCm39) |
D583A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,953,254 (GRCm39) |
S1120P |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,409 (GRCm39) |
F1356I |
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 |
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'- AAAGGATTCTTTGGAAACTGTCCCTG -3'
(R):5'- CGAGACATCTCCTAGGAACAGC -3'
Sequencing Primer
(F):5'- TGCAAGTAGTATGCTCTCACAG -3'
(R):5'- CCTAGGAACAGCTTGAGTTCAATGC -3'
|
Posted On |
2019-11-26 |