Incidental Mutation 'R9529:Sbno1'
| ID |
719383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno1
|
| Ensembl Gene |
ENSMUSG00000038095 |
| Gene Name |
strawberry notch 1 |
| Synonyms |
9330180L10Rik, sno |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124506765-124564059 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 124517413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1233
(R1233*)
|
| 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 null
Transcript: ENSMUST00000065263
AA Change: R1233*
|
| SMART Domains |
Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: R1233*
| 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 null
Transcript: ENSMUST00000168651
AA Change: R1232*
|
| SMART Domains |
Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: R1232*
| 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 null
Transcript: ENSMUST00000199808
AA Change: R1233*
|
| SMART Domains |
Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: R1233*
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
C |
5: 113,331,682 (GRCm39) |
L844R |
possibly damaging |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,282,082 (GRCm39) |
Y237H |
probably benign |
Het |
| Abca8a |
A |
T |
11: 109,947,167 (GRCm39) |
Y1036* |
probably null |
Het |
| Abcg3 |
T |
C |
5: 105,121,973 (GRCm39) |
T135A |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,213,773 (GRCm39) |
A30V |
probably damaging |
Het |
| Cald1 |
T |
A |
6: 34,662,947 (GRCm39) |
D3E |
probably damaging |
Het |
| Ccdc89 |
T |
A |
7: 90,076,573 (GRCm39) |
L261Q |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,231 (GRCm39) |
D411G |
possibly damaging |
Het |
| Chil4 |
T |
A |
3: 106,118,656 (GRCm39) |
N87Y |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,328,640 (GRCm39) |
L308Q |
probably benign |
Het |
| Clptm1 |
T |
C |
7: 19,371,600 (GRCm39) |
I278V |
probably benign |
Het |
| Col5a3 |
A |
T |
9: 20,685,308 (GRCm39) |
|
probably null |
Het |
| Ddost |
T |
A |
4: 138,038,780 (GRCm39) |
D336E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,561,495 (GRCm39) |
Y2054C |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 28,197,723 (GRCm39) |
L1000H |
unknown |
Het |
| Fhip2b |
T |
C |
14: 70,822,579 (GRCm39) |
E714G |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,610,793 (GRCm39) |
V71A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,545,175 (GRCm39) |
Y2811H |
probably damaging |
Het |
| Hmox2 |
C |
T |
16: 4,582,818 (GRCm39) |
Q184* |
probably null |
Het |
| Igkv9-124 |
G |
T |
6: 67,919,280 (GRCm39) |
T44N |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,737,649 (GRCm39) |
T5149I |
unknown |
Het |
| Lamb2 |
T |
A |
9: 108,363,477 (GRCm39) |
D885E |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,407,680 (GRCm39) |
S220P |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,287,453 (GRCm39) |
T211S |
possibly damaging |
Het |
| Mup13 |
A |
T |
4: 61,184,117 (GRCm39) |
C15S |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,979,556 (GRCm39) |
|
probably null |
Het |
| Nek10 |
A |
G |
14: 14,850,833 (GRCm38) |
I293V |
probably benign |
Het |
| Or10d3 |
G |
A |
9: 39,461,723 (GRCm39) |
T148I |
probably benign |
Het |
| Or2a52 |
T |
A |
6: 43,144,432 (GRCm39) |
S147T |
possibly damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Pdss2 |
G |
A |
10: 43,269,990 (GRCm39) |
V278I |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,431,518 (GRCm39) |
K748R |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,174,519 (GRCm39) |
|
probably null |
Het |
| Ranbp17 |
G |
A |
11: 33,424,826 (GRCm39) |
S510L |
unknown |
Het |
| Rp1 |
T |
A |
1: 4,416,447 (GRCm39) |
H1555L |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,799,535 (GRCm39) |
K389E |
probably benign |
Het |
| Ryk |
T |
C |
9: 102,746,518 (GRCm39) |
V151A |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,465,660 (GRCm39) |
N4838I |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,594,932 (GRCm39) |
K1927M |
probably damaging |
Het |
| Sec22c |
A |
T |
9: 121,513,860 (GRCm39) |
I259N |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,583 (GRCm39) |
D402V |
probably benign |
Het |
| Stk38 |
G |
A |
17: 29,207,210 (GRCm39) |
T111I |
probably damaging |
Het |
| Tmem237 |
G |
A |
1: 59,147,215 (GRCm39) |
T306I |
probably damaging |
Het |
| Tmprss11a |
T |
C |
5: 86,576,501 (GRCm39) |
K117E |
probably benign |
Het |
| Tmprss9 |
A |
T |
10: 80,730,640 (GRCm39) |
D722V |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,592,250 (GRCm39) |
Y575C |
probably damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,438 (GRCm39) |
M30V |
probably benign |
Het |
| Usp36 |
A |
T |
11: 118,159,461 (GRCm39) |
L661* |
probably null |
Het |
| Vmn2r13 |
G |
T |
5: 109,304,064 (GRCm39) |
T789N |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,400,018 (GRCm39) |
T550A |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,355,540 (GRCm39) |
S3434P |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,351,007 (GRCm39) |
V1571A |
probably damaging |
Het |
| Zfp438 |
A |
G |
18: 5,213,501 (GRCm39) |
S486P |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,660 (GRCm39) |
H643R |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,976,596 (GRCm39) |
K955R |
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 |
|
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 |
|
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 |
|
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'- TCAATGGGCAGTAACCTTAAAACTG -3'
(R):5'- ACATTAAAGCCTGGACTTGCG -3'
Sequencing Primer
(F):5'- TGCAATGGGATCTAATGCCC -3'
(R):5'- AAGCCTGGACTTGCGGTTATATAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation