Incidental Mutation 'R7012:Sbno2'
| ID |
545085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
045113-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 79905352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219258]
[ENSMUST00000219260]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042771
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
|
Pfam:AAA_34
|
209 |
500 |
8.2e-135 |
PFAM |
|
Pfam:ResIII
|
239 |
419 |
7.7e-8 |
PFAM |
|
low complexity region
|
611 |
631 |
N/A |
INTRINSIC |
|
Pfam:Helicase_C_4
|
726 |
1004 |
7.5e-120 |
PFAM |
|
low complexity region
|
1263 |
1283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217972
AA Change: C161S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219260
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired osteoclast fusion, impaired osteoblastogenesis, osteopetrosis, increased bone mass, and decreased body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,431 (GRCm39) |
F686L |
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,017,376 (GRCm39) |
V266I |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,401,750 (GRCm39) |
T249A |
probably damaging |
Het |
| Adss1 |
A |
G |
12: 112,600,670 (GRCm39) |
D213G |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,980,963 (GRCm39) |
V453G |
probably damaging |
Het |
| Apold1 |
G |
A |
6: 134,961,007 (GRCm39) |
G154R |
probably damaging |
Het |
| Birc5 |
A |
G |
11: 117,740,262 (GRCm39) |
E29G |
probably benign |
Het |
| Clcn1 |
G |
A |
6: 42,267,542 (GRCm39) |
R75H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,984,583 (GRCm39) |
I868F |
possibly damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,223 (GRCm39) |
V215E |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,450,511 (GRCm39) |
I140N |
possibly damaging |
Het |
| Cops5 |
A |
G |
1: 10,100,890 (GRCm39) |
*147Q |
probably null |
Het |
| Dbr1 |
T |
A |
9: 99,465,374 (GRCm39) |
Y317* |
probably null |
Het |
| Dock5 |
A |
C |
14: 68,060,035 (GRCm39) |
V468G |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,096 (GRCm39) |
I477V |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Git1 |
T |
C |
11: 77,390,606 (GRCm39) |
L114P |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,707 (GRCm39) |
|
probably null |
Het |
| Itih4 |
A |
G |
14: 30,612,706 (GRCm39) |
N244S |
probably benign |
Het |
| Lin28a |
A |
G |
4: 133,746,040 (GRCm39) |
S5P |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,915,060 (GRCm39) |
I372T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,765 (GRCm39) |
T143A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,406,914 (GRCm39) |
|
probably null |
Het |
| Or13c9 |
A |
G |
4: 52,936,193 (GRCm39) |
L30P |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,823 (GRCm39) |
M283L |
probably benign |
Het |
| Or5t16 |
A |
T |
2: 86,819,051 (GRCm39) |
H156Q |
possibly damaging |
Het |
| Or6e1 |
A |
G |
14: 54,519,674 (GRCm39) |
I226T |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,800,493 (GRCm39) |
G4438D |
unknown |
Het |
| Phlpp2 |
T |
A |
8: 110,603,486 (GRCm39) |
F51I |
possibly damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 150,004,659 (GRCm39) |
V711A |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,376,751 (GRCm39) |
S189T |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,868,621 (GRCm39) |
N965S |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 85,992,320 (GRCm39) |
N116S |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,777,313 (GRCm39) |
Y221H |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,032,287 (GRCm39) |
I613V |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,295,871 (GRCm39) |
|
probably null |
Het |
| Ston1 |
T |
C |
17: 88,943,413 (GRCm39) |
M273T |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,100,820 (GRCm39) |
Y53N |
probably damaging |
Het |
| Tmem132b |
T |
A |
5: 125,775,654 (GRCm39) |
L376Q |
probably damaging |
Het |
| Trim60 |
A |
G |
8: 65,453,043 (GRCm39) |
V402A |
possibly damaging |
Het |
| Tssk5 |
A |
C |
15: 76,257,745 (GRCm39) |
N178K |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,844,982 (GRCm39) |
I450T |
possibly damaging |
Het |
| Tyw1 |
T |
G |
5: 130,306,571 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,255,632 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,756 (GRCm39) |
V670A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,530 (GRCm39) |
N343D |
probably benign |
Het |
| Zfp472 |
T |
G |
17: 33,196,220 (GRCm39) |
N98K |
probably benign |
Het |
|
| Other mutations in Sbno2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Sbno2
|
APN |
10 |
79,900,340 (GRCm39) |
splice site |
probably benign |
|
|
IGL01773:Sbno2
|
APN |
10 |
79,893,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Sbno2
|
APN |
10 |
79,896,226 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01911:Sbno2
|
APN |
10 |
79,905,458 (GRCm39) |
nonsense |
probably null |
|
|
IGL02071:Sbno2
|
APN |
10 |
79,896,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02094:Sbno2
|
APN |
10 |
79,893,479 (GRCm39) |
missense |
probably benign |
|
|
IGL02220:Sbno2
|
APN |
10 |
79,908,202 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02366:Sbno2
|
APN |
10 |
79,900,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Sbno2
|
APN |
10 |
79,903,236 (GRCm39) |
splice site |
probably null |
|
|
IGL03007:Sbno2
|
APN |
10 |
79,894,384 (GRCm39) |
splice site |
probably benign |
|
|
IGL03083:Sbno2
|
APN |
10 |
79,893,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03393:Sbno2
|
APN |
10 |
79,902,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Narcissus
|
UTSW |
10 |
79,898,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
psychopomp
|
UTSW |
10 |
79,895,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Unsafe
|
UTSW |
10 |
79,896,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Sbno2
|
UTSW |
10 |
79,894,174 (GRCm39) |
splice site |
probably benign |
|
|
R0126:Sbno2
|
UTSW |
10 |
79,904,687 (GRCm39) |
splice site |
probably null |
|
|
R0652:Sbno2
|
UTSW |
10 |
79,903,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Sbno2
|
UTSW |
10 |
79,920,093 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1571:Sbno2
|
UTSW |
10 |
79,896,226 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1601:Sbno2
|
UTSW |
10 |
79,896,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1634:Sbno2
|
UTSW |
10 |
79,896,468 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1733:Sbno2
|
UTSW |
10 |
79,894,342 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1762:Sbno2
|
UTSW |
10 |
79,902,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Sbno2
|
UTSW |
10 |
79,896,439 (GRCm39) |
nonsense |
probably null |
|
|
R1859:Sbno2
|
UTSW |
10 |
79,894,473 (GRCm39) |
nonsense |
probably null |
|
|
R2086:Sbno2
|
UTSW |
10 |
79,893,690 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2136:Sbno2
|
UTSW |
10 |
79,898,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Sbno2
|
UTSW |
10 |
79,893,855 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4426:Sbno2
|
UTSW |
10 |
79,908,192 (GRCm39) |
missense |
probably null |
0.02 |
|
R4504:Sbno2
|
UTSW |
10 |
79,896,326 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4692:Sbno2
|
UTSW |
10 |
79,922,161 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5044:Sbno2
|
UTSW |
10 |
79,898,022 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5166:Sbno2
|
UTSW |
10 |
79,902,762 (GRCm39) |
nonsense |
probably null |
|
|
R5576:Sbno2
|
UTSW |
10 |
79,903,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5665:Sbno2
|
UTSW |
10 |
79,894,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5709:Sbno2
|
UTSW |
10 |
79,922,171 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R5828:Sbno2
|
UTSW |
10 |
79,902,424 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6192:Sbno2
|
UTSW |
10 |
79,895,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6971:Sbno2
|
UTSW |
10 |
79,895,868 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7082:Sbno2
|
UTSW |
10 |
79,895,924 (GRCm39) |
splice site |
probably null |
|
|
R7133:Sbno2
|
UTSW |
10 |
79,922,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Sbno2
|
UTSW |
10 |
79,905,409 (GRCm39) |
missense |
unknown |
|
|
R7481:Sbno2
|
UTSW |
10 |
79,893,333 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7746:Sbno2
|
UTSW |
10 |
79,894,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7964:Sbno2
|
UTSW |
10 |
79,904,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8055:Sbno2
|
UTSW |
10 |
79,905,265 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8221:Sbno2
|
UTSW |
10 |
79,905,845 (GRCm39) |
missense |
probably benign |
|
|
R8329:Sbno2
|
UTSW |
10 |
79,900,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Sbno2
|
UTSW |
10 |
79,911,090 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8727:Sbno2
|
UTSW |
10 |
79,911,090 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8840:Sbno2
|
UTSW |
10 |
79,893,360 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8932:Sbno2
|
UTSW |
10 |
79,898,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Sbno2
|
UTSW |
10 |
79,893,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Sbno2
|
UTSW |
10 |
79,896,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Sbno2
|
UTSW |
10 |
79,898,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Sbno2
|
UTSW |
10 |
79,893,293 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGGCTTCCAGCTGTAG -3'
(R):5'- ACTGCAATGTGGACCAGACC -3'
Sequencing Primer
(F):5'- CAGACAGGGTGCTGTTGTC -3'
(R):5'- TGGACCAGACCCCTGAACTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation