Incidental Mutation 'R8055:Sbno2'
| ID |
619326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
067492-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79905265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 206
(I206F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219258]
[ENSMUST00000219260]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042771
AA Change: I206F
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: I206F
| 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 |
possibly damaging
Transcript: ENSMUST00000217972
AA Change: I190F
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218630
AA Change: I206F
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219258
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219260
AA Change: I206F
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
C |
A |
3: 92,336,139 (GRCm39) |
G188W |
unknown |
Het |
| Ahcyl1 |
A |
T |
3: 107,576,047 (GRCm39) |
D353E |
probably benign |
Het |
| Alk |
G |
T |
17: 72,206,252 (GRCm39) |
P1033T |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,556,565 (GRCm39) |
C20F |
probably benign |
Het |
| BC049715 |
A |
G |
6: 136,816,913 (GRCm39) |
N51S |
possibly damaging |
Het |
| Ccser1 |
G |
A |
6: 61,290,757 (GRCm39) |
V480M |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,244,905 (GRCm39) |
N1184D |
probably benign |
Het |
| Cers6 |
C |
T |
2: 68,777,625 (GRCm39) |
R111W |
probably damaging |
Het |
| Clybl |
T |
A |
14: 122,615,273 (GRCm39) |
D204E |
probably damaging |
Het |
| Cxcl13 |
T |
C |
5: 96,107,763 (GRCm39) |
V73A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,032 (GRCm39) |
N593S |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,069,168 (GRCm39) |
N47K |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,636,015 (GRCm39) |
T46A |
probably benign |
Het |
| Gm15217 |
T |
C |
14: 46,616,911 (GRCm39) |
|
probably benign |
Het |
| Gnb5 |
G |
T |
9: 75,250,826 (GRCm39) |
A317S |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,722 (GRCm39) |
V304A |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,633,424 (GRCm39) |
C209* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,732,378 (GRCm39) |
N2646K |
unknown |
Het |
| Krt14 |
C |
G |
11: 100,095,584 (GRCm39) |
V274L |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,186 (GRCm39) |
D1277V |
unknown |
Het |
| Myo9a |
A |
T |
9: 59,814,743 (GRCm39) |
E2226D |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,120,255 (GRCm39) |
V631A |
possibly damaging |
Het |
| Piezo2 |
G |
A |
18: 63,175,882 (GRCm39) |
S1833L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,359 (GRCm39) |
V203A |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,032,197 (GRCm39) |
D459G |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,634,749 (GRCm39) |
R3631S |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,001 (GRCm39) |
T558A |
probably benign |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,997,724 (GRCm39) |
R566Q |
probably damaging |
Het |
| Rhbdf2 |
A |
C |
11: 116,498,191 (GRCm39) |
S3A |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,595,284 (GRCm39) |
I1319N |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,149,845 (GRCm39) |
V944A |
probably damaging |
Het |
| Scube1 |
C |
T |
15: 83,543,226 (GRCm39) |
|
probably null |
Het |
| Slc22a20 |
G |
A |
19: 6,021,439 (GRCm39) |
A521V |
probably benign |
Het |
| Slc6a4 |
C |
A |
11: 76,901,424 (GRCm39) |
T53K |
probably benign |
Het |
| Snapc2 |
G |
A |
8: 4,304,322 (GRCm39) |
R75Q |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,884,351 (GRCm39) |
K662I |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,298,438 (GRCm39) |
S55P |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,753 (GRCm39) |
V1503D |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,437,474 (GRCm39) |
N277K |
probably benign |
Het |
| Tlx3 |
A |
T |
11: 33,151,283 (GRCm39) |
V291E |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,747,327 (GRCm39) |
H101Q |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,495,343 (GRCm39) |
D70E |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,803,924 (GRCm39) |
G1938C |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,014,828 (GRCm39) |
L190P |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,541 (GRCm39) |
S641C |
possibly damaging |
Het |
| Wnt8b |
A |
G |
19: 44,481,952 (GRCm39) |
|
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 |
|
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 |
|
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'- GCTGTGGTGAGCATGAACAG -3'
(R):5'- CTAAGTGTAAGTGTCTGGGCCAG -3'
Sequencing Primer
(F):5'- ACCCTCCTTATGAGCTGGG -3'
(R):5'- AAGTGTCTGGGCCAGGGATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation