Incidental Mutation 'R8840:Sbno2'
| ID |
674378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
068668-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8840 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79893360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1314
(S1314P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000183037]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219260]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042771
AA Change: S1314P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: S1314P
| 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 |
probably benign
Transcript: ENSMUST00000097227
|
| SMART Domains |
Protein: ENSMUSP00000094863
Gene: ENSMUSG00000075706
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
97 |
204 |
6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105372
|
| SMART Domains |
Protein: ENSMUSP00000101011
Gene: ENSMUSG00000075706
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
41 |
148 |
1.3e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183037
|
| SMART Domains |
Protein: ENSMUSP00000138186
Gene: ENSMUSG00000075706
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSHPx
|
1 |
108 |
3.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218630
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219260
AA Change: S1314P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
G |
A |
5: 53,016,473 (GRCm39) |
D484N |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,152,769 (GRCm39) |
L109F |
probably damaging |
Het |
| Arhgap9 |
A |
G |
10: 127,161,009 (GRCm39) |
T179A |
possibly damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,733,845 (GRCm39) |
I359F |
|
Het |
| Btnl1 |
A |
G |
17: 34,604,577 (GRCm39) |
T453A |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,649,927 (GRCm39) |
I644V |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,567,483 (GRCm39) |
|
probably null |
Het |
| Ccdc8 |
T |
A |
7: 16,728,642 (GRCm39) |
F44I |
probably damaging |
Het |
| Ccz1 |
T |
C |
5: 143,940,982 (GRCm39) |
I191V |
probably damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,286 (GRCm39) |
K31E |
possibly damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,237 (GRCm39) |
D321G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,309,139 (GRCm39) |
N1871D |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,634,718 (GRCm39) |
E1211G |
probably damaging |
Het |
| Eppk1 |
T |
A |
15: 75,994,094 (GRCm39) |
D929V |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,602,819 (GRCm39) |
V246A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,606 (GRCm39) |
I5780V |
probably benign |
Het |
| Gart |
A |
T |
16: 91,433,010 (GRCm39) |
M313K |
probably benign |
Het |
| Gnl1 |
T |
G |
17: 36,293,486 (GRCm39) |
L224V |
probably damaging |
Het |
| Hectd3 |
T |
C |
4: 116,855,604 (GRCm39) |
V368A |
probably benign |
Het |
| Ibsp |
C |
T |
5: 104,458,006 (GRCm39) |
A181V |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,287,716 (GRCm39) |
E421G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,721,016 (GRCm39) |
Y3831N |
unknown |
Het |
| Meltf |
T |
C |
16: 31,716,020 (GRCm39) |
L733P |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,399,379 (GRCm39) |
F898L |
probably benign |
Het |
| Npr3 |
A |
T |
15: 11,905,329 (GRCm39) |
Y133N |
probably damaging |
Het |
| Or8g29-ps1 |
G |
A |
9: 39,201,018 (GRCm39) |
T56I |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,349,842 (GRCm39) |
V229A |
unknown |
Het |
| Pramel25 |
C |
A |
4: 143,521,638 (GRCm39) |
T418K |
probably damaging |
Het |
| Primpol |
A |
T |
8: 47,046,731 (GRCm39) |
F188L |
probably damaging |
Het |
| Rbm15 |
A |
G |
3: 107,240,305 (GRCm39) |
V31A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,782,570 (GRCm39) |
D322V |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,952,711 (GRCm39) |
N114S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,177 (GRCm39) |
D412G |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,867,313 (GRCm39) |
D770G |
probably damaging |
Het |
| Skint7 |
T |
C |
4: 111,845,183 (GRCm39) |
F332L |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,365 (GRCm39) |
I34F |
possibly damaging |
Het |
| Suclg2 |
T |
A |
6: 95,546,615 (GRCm39) |
E287V |
probably damaging |
Het |
| Trhr2 |
T |
C |
8: 123,085,621 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,606,371 (GRCm39) |
D18146A |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,057,253 (GRCm39) |
T450I |
probably damaging |
Het |
| Xab2 |
A |
G |
8: 3,663,254 (GRCm39) |
F470L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,691 (GRCm39) |
H912R |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,768,635 (GRCm39) |
S326T |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
probably damaging |
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 |
|
R7012:Sbno2
|
UTSW |
10 |
79,905,352 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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'- GATTTCCTGAGTTACCAGCTCTCTG -3'
(R):5'- TGGACTTGACCTACAGTCCC -3'
Sequencing Primer
(F):5'- AGGCACCTCAGTAGTCATGG -3'
(R):5'- TACAGTCCCCCAGCTGAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation