Incidental Mutation 'R0655:Sbno1'
| ID |
62471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno1
|
| Ensembl Gene |
ENSMUSG00000038095 |
| Gene Name |
strawberry notch 1 |
| Synonyms |
9330180L10Rik, sno |
| MMRRC Submission |
038840-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0655 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124514212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1327
(V1327L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130860
(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: V1328L
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: V1328L
| 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: V1327L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: V1327L
| 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: V1328L
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: V1328L
| 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: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
C |
17: 36,268,737 (GRCm39) |
I757M |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,481,390 (GRCm39) |
T931A |
probably damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,694,551 (GRCm39) |
I76N |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,284 (GRCm39) |
I1289N |
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,285 (GRCm39) |
|
probably null |
Het |
| Cbl |
G |
T |
9: 44,070,049 (GRCm39) |
T566K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,919,482 (GRCm39) |
K180E |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,656,549 (GRCm39) |
T571I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,736,046 (GRCm39) |
Y485F |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,871 (GRCm39) |
Y350N |
possibly damaging |
Het |
| Dstn |
T |
A |
2: 143,780,342 (GRCm39) |
I14N |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,460 (GRCm39) |
S184G |
probably benign |
Het |
| Eif1a |
G |
T |
18: 46,741,130 (GRCm39) |
G122C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,799 (GRCm39) |
T562S |
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,673 (GRCm39) |
N30S |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,377 (GRCm39) |
E212* |
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,622 (GRCm39) |
A269T |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,109,350 (GRCm39) |
V195A |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,321,061 (GRCm39) |
S2123P |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,160,519 (GRCm39) |
E519G |
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,565 (GRCm39) |
S14P |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,047 (GRCm39) |
V61A |
probably damaging |
Het |
| Ifitm1 |
C |
A |
7: 140,549,449 (GRCm39) |
F77L |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,346 (GRCm39) |
S118P |
probably benign |
Het |
| Mtmr3 |
C |
A |
11: 4,438,610 (GRCm39) |
D615Y |
probably damaging |
Het |
| Mtss1 |
C |
A |
15: 58,953,351 (GRCm39) |
C9F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,948,928 (GRCm39) |
S167P |
possibly damaging |
Het |
| Or1e34 |
T |
C |
11: 73,778,631 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,632 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,686,850 (GRCm39) |
Q100* |
probably null |
Het |
| Oscp1 |
T |
C |
4: 125,952,526 (GRCm39) |
L18P |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,462 (GRCm39) |
S297P |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,323,797 (GRCm39) |
D476V |
probably benign |
Het |
| Phlpp2 |
A |
T |
8: 110,622,219 (GRCm39) |
I154L |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,846 (GRCm39) |
V449E |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,416,341 (GRCm39) |
S519P |
probably benign |
Het |
| Rnf138 |
T |
G |
18: 21,143,840 (GRCm39) |
V128G |
probably benign |
Het |
| Safb |
T |
A |
17: 56,904,803 (GRCm39) |
S209T |
probably benign |
Het |
| Scarb1 |
A |
G |
5: 125,377,504 (GRCm39) |
V176A |
probably damaging |
Het |
| Scd4 |
A |
G |
19: 44,327,407 (GRCm39) |
H161R |
possibly damaging |
Het |
| Selenoo |
T |
A |
15: 88,979,858 (GRCm39) |
H335Q |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,626,217 (GRCm39) |
I1116M |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,901,690 (GRCm39) |
R835W |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,006,899 (GRCm39) |
E921G |
probably damaging |
Het |
| Tectb |
G |
A |
19: 55,178,302 (GRCm39) |
G234S |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,540 (GRCm39) |
M606I |
probably damaging |
Het |
| Tmed10 |
T |
A |
12: 85,390,291 (GRCm39) |
I88F |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,735,880 (GRCm39) |
V31I |
unknown |
Het |
| Trp53inp2 |
G |
T |
2: 155,228,088 (GRCm39) |
G98* |
probably null |
Het |
| Tssc4 |
A |
G |
7: 142,623,782 (GRCm39) |
D30G |
probably damaging |
Het |
| Uaca |
T |
C |
9: 60,779,311 (GRCm39) |
Y1233H |
probably benign |
Het |
| Unc13c |
G |
A |
9: 73,838,235 (GRCm39) |
T872I |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,542,940 (GRCm39) |
H398R |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,207 (GRCm39) |
T112I |
probably benign |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,650 (GRCm39) |
Y165H |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,319 (GRCm39) |
C748* |
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,102,233 (GRCm39) |
W929R |
probably damaging |
Het |
| Yeats2 |
A |
T |
16: 20,012,574 (GRCm39) |
K591* |
probably null |
Het |
| Zbtb9 |
T |
A |
17: 27,193,074 (GRCm39) |
S160T |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,827 (GRCm39) |
R32S |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,930,684 (GRCm39) |
M122V |
possibly 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 |
|
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 |
|
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'- CAAGGGTCAAATACCACTGGCTACC -3'
(R):5'- GACCGTCTCCATCCATTTGGAAAGG -3'
Sequencing Primer
(F):5'- agccatctcaccagccc -3'
(R):5'- GGCTAGACTCTACAGATATTCACG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation