Incidental Mutation 'R7746:Sbno2'
ID |
596846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno2
|
Ensembl Gene |
ENSMUSG00000035673 |
Gene Name |
strawberry notch 2 |
Synonyms |
Stno |
MMRRC Submission |
045802-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7746 (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 C
at 79894708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 1012
(I1012M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000183037]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219260]
|
AlphaFold |
Q7TNB8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042771
AA Change: I1012M
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000041635 Gene: ENSMUSG00000035673 AA Change: I1012M
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 damaging
Transcript: ENSMUST00000218630
AA Change: I1012M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219260
AA Change: I1012M
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,559,339 (GRCm39) |
Q184L |
probably benign |
Het |
9030624G23Rik |
T |
G |
12: 24,124,674 (GRCm39) |
S68R |
possibly damaging |
Het |
Acyp1 |
G |
T |
12: 85,325,832 (GRCm39) |
R56S |
unknown |
Het |
Angpt2 |
C |
T |
8: 18,742,080 (GRCm39) |
R492Q |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,637,451 (GRCm39) |
L1340P |
possibly damaging |
Het |
Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
Bach1 |
G |
A |
16: 87,526,521 (GRCm39) |
S661N |
probably benign |
Het |
Bik |
T |
C |
15: 83,425,535 (GRCm39) |
I12T |
possibly damaging |
Het |
C3 |
C |
T |
17: 57,525,859 (GRCm39) |
R841H |
probably damaging |
Het |
Cacna1s |
G |
T |
1: 135,996,756 (GRCm39) |
R119L |
probably damaging |
Het |
Cic |
G |
A |
7: 24,988,207 (GRCm39) |
V1632M |
probably damaging |
Het |
Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,035,364 (GRCm39) |
H37R |
possibly damaging |
Het |
Dvl1 |
A |
G |
4: 155,940,696 (GRCm39) |
I439V |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,404,670 (GRCm39) |
D474N |
probably damaging |
Het |
Foxs1 |
T |
A |
2: 152,775,028 (GRCm39) |
E8D |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,882,269 (GRCm39) |
D822G |
probably damaging |
Het |
Gm44501 |
C |
T |
17: 40,889,720 (GRCm39) |
A78V |
possibly damaging |
Het |
Gpr19 |
C |
A |
6: 134,846,355 (GRCm39) |
A443S |
probably damaging |
Het |
Helb |
T |
C |
10: 119,931,007 (GRCm39) |
R729G |
probably null |
Het |
Lnpep |
G |
T |
17: 17,758,824 (GRCm39) |
T840K |
probably benign |
Het |
Mctp2 |
T |
C |
7: 71,835,544 (GRCm39) |
N551S |
probably benign |
Het |
Mgam |
T |
G |
6: 40,645,127 (GRCm39) |
F635V |
probably damaging |
Het |
Mlc1 |
G |
A |
15: 88,848,373 (GRCm39) |
A262V |
probably damaging |
Het |
Msantd5f9 |
C |
T |
4: 73,838,099 (GRCm39) |
S29N |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,415,976 (GRCm39) |
Y2974C |
probably benign |
Het |
Nprl3 |
A |
T |
11: 32,198,150 (GRCm39) |
Y208* |
probably null |
Het |
Or2n1d |
C |
T |
17: 38,646,285 (GRCm39) |
P79L |
probably benign |
Het |
Or8k40 |
A |
T |
2: 86,584,437 (GRCm39) |
L215Q |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,499,868 (GRCm39) |
F915S |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,980,596 (GRCm39) |
C829Y |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,918,496 (GRCm39) |
P685S |
probably damaging |
Het |
Ppp4r3b |
A |
G |
11: 29,123,352 (GRCm39) |
D16G |
probably benign |
Het |
Ppwd1 |
C |
T |
13: 104,353,714 (GRCm39) |
R348H |
probably damaging |
Het |
Pxdc1 |
T |
C |
13: 34,823,046 (GRCm39) |
T98A |
probably benign |
Het |
Rhbdl1 |
T |
C |
17: 26,055,167 (GRCm39) |
I68V |
probably benign |
Het |
Ror2 |
A |
G |
13: 53,271,261 (GRCm39) |
C365R |
probably damaging |
Het |
Samd4b |
A |
T |
7: 28,103,328 (GRCm39) |
H43Q |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 110,040,633 (GRCm39) |
V398D |
probably benign |
Het |
Serpinb9h |
A |
T |
13: 33,581,841 (GRCm39) |
I133L |
probably damaging |
Het |
Strn |
T |
C |
17: 78,984,801 (GRCm39) |
T281A |
probably benign |
Het |
Syt4 |
T |
A |
18: 31,577,318 (GRCm39) |
D12V |
probably benign |
Het |
Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
Tmem45a |
A |
G |
16: 56,646,100 (GRCm39) |
L40P |
probably damaging |
Het |
Tnn |
G |
A |
1: 159,942,255 (GRCm39) |
P1081L |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,716,544 (GRCm39) |
V2888A |
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 |
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'- GCGACCTAGTTAATGCCTCTTC -3'
(R):5'- AGCTATGCACAGCAGGACAC -3'
Sequencing Primer
(F):5'- CCCACTTCATACCGCGG -3'
(R):5'- AGTACCCCAGACCAGAGGG -3'
|
Posted On |
2019-11-26 |