Incidental Mutation 'R6154:Sbno1'
| ID |
489440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno1
|
| Ensembl Gene |
ENSMUSG00000038095 |
| Gene Name |
strawberry notch 1 |
| Synonyms |
9330180L10Rik, sno |
| MMRRC Submission |
044301-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124516542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1277
(H1277R)
|
| 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: H1277R
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: H1277R
| 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: H1276R
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: H1276R
| 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 |
possibly damaging
Transcript: ENSMUST00000199808
AA Change: H1277R
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: H1277R
| 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 |
0.9514 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
G |
10: 106,959,210 (GRCm39) |
I79L |
probably benign |
Het |
| Adam6a |
C |
T |
12: 113,509,292 (GRCm39) |
T555I |
probably benign |
Het |
| Adap1 |
A |
G |
5: 139,293,531 (GRCm39) |
V60A |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,387,051 (GRCm39) |
E101G |
probably damaging |
Het |
| Asxl2 |
T |
C |
12: 3,546,593 (GRCm39) |
V459A |
possibly damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Camta2 |
G |
A |
11: 70,569,211 (GRCm39) |
A578V |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,818,609 (GRCm39) |
N316D |
possibly damaging |
Het |
| Chrm3 |
T |
A |
13: 9,928,476 (GRCm39) |
M187L |
possibly damaging |
Het |
| Clcn4 |
T |
C |
7: 7,294,481 (GRCm39) |
T367A |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,376,928 (GRCm39) |
S654P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,701,387 (GRCm39) |
T2510S |
unknown |
Het |
| Crisp4 |
T |
C |
1: 18,193,012 (GRCm39) |
E192G |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,711,370 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
G |
15: 28,204,177 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,746,164 (GRCm39) |
D3983A |
probably benign |
Het |
| Dock5 |
C |
A |
14: 68,097,361 (GRCm39) |
V71L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,584,427 (GRCm39) |
V610A |
probably damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,428 (GRCm39) |
Y86C |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,903,799 (GRCm39) |
I267V |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,169,178 (GRCm39) |
Y575C |
probably damaging |
Het |
| Gm8094 |
T |
A |
14: 42,934,020 (GRCm39) |
D24V |
probably benign |
Het |
| Grina |
T |
C |
15: 76,133,087 (GRCm39) |
I244T |
possibly damaging |
Het |
| Haus6 |
A |
G |
4: 86,501,993 (GRCm39) |
L626P |
possibly damaging |
Het |
| Hexd |
A |
T |
11: 121,112,097 (GRCm39) |
H439L |
probably benign |
Het |
| Ifna12 |
A |
T |
4: 88,521,531 (GRCm39) |
C5* |
probably null |
Het |
| Igf2bp2 |
G |
T |
16: 21,894,843 (GRCm39) |
S300* |
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,362 (GRCm39) |
R71G |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,969 (GRCm39) |
V2333A |
probably benign |
Het |
| Lrrn4cl |
T |
C |
19: 8,829,252 (GRCm39) |
S77P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,500,927 (GRCm39) |
V831A |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,207,674 (GRCm39) |
I40N |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Ncbp3 |
T |
A |
11: 72,940,700 (GRCm39) |
Y67N |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,534,104 (GRCm39) |
I349F |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,200,368 (GRCm39) |
*81K |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,090,718 (GRCm39) |
Y280H |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,476,788 (GRCm39) |
D722G |
probably benign |
Het |
| Or10ag55-ps1 |
T |
G |
2: 87,139,902 (GRCm39) |
S256R |
probably benign |
Het |
| Or2m12 |
A |
T |
16: 19,105,181 (GRCm39) |
I104K |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,734 (GRCm39) |
M1T |
probably null |
Het |
| Or5i1 |
A |
G |
2: 87,613,100 (GRCm39) |
D72G |
possibly damaging |
Het |
| Or6c7 |
C |
T |
10: 129,323,545 (GRCm39) |
T222I |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,966 (GRCm39) |
I296V |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,489,552 (GRCm39) |
L1681M |
probably damaging |
Het |
| Pdlim5 |
T |
C |
3: 141,983,674 (GRCm39) |
R360G |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,488,051 (GRCm39) |
Q81* |
probably null |
Het |
| Pitpnb |
C |
T |
5: 111,486,263 (GRCm39) |
Q56* |
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,603 (GRCm39) |
S215P |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,471,989 (GRCm39) |
Y728H |
probably damaging |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
| Sirt6 |
C |
T |
10: 81,462,339 (GRCm39) |
G20D |
probably damaging |
Het |
| Sit1 |
C |
A |
4: 43,482,981 (GRCm39) |
R89S |
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,546,094 (GRCm39) |
R80G |
probably damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,747 (GRCm39) |
M78K |
probably benign |
Het |
| Stk10 |
T |
A |
11: 32,553,654 (GRCm39) |
|
probably null |
Het |
| Tada2b |
A |
G |
5: 36,634,008 (GRCm39) |
V190A |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,747,780 (GRCm39) |
V41I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,299,567 (GRCm39) |
V1146E |
probably benign |
Het |
| Trappc9 |
T |
C |
15: 72,929,930 (GRCm39) |
D142G |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,965,178 (GRCm39) |
Y1558H |
probably damaging |
Het |
| Unc5c |
C |
A |
3: 141,383,914 (GRCm39) |
S97R |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,583 (GRCm39) |
I156T |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,821,921 (GRCm39) |
M588K |
possibly damaging |
Het |
| Vps26a |
T |
G |
10: 62,304,119 (GRCm39) |
E117D |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,842,627 (GRCm39) |
|
probably benign |
Het |
| Zfp534 |
C |
A |
4: 147,759,145 (GRCm39) |
R508I |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,526,642 (GRCm39) |
C187Y |
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 |
|
|
R5898:Sbno1
|
UTSW |
5 |
124,524,854 (GRCm39) |
intron |
probably benign |
|
|
R6136:Sbno1
|
UTSW |
5 |
124,516,554 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- TAAACAAGCATTGTGGCTCAG -3'
(R):5'- CCATGAGGGGCTTTGGATAC -3'
Sequencing Primer
(F):5'- CAAGCATTGTGGCTCAGGTCTAC -3'
(R):5'- TCCATTCTGCTACACATGGGGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation