Incidental Mutation 'R0964:Sbno2'
ID |
81495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno2
|
Ensembl Gene |
ENSMUSG00000035673 |
Gene Name |
strawberry notch 2 |
Synonyms |
Stno |
MMRRC Submission |
039093-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 79920093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 46
(T46N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000218630]
[ENSMUST00000219258]
[ENSMUST00000219260]
|
AlphaFold |
Q7TNB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042771
AA Change: T46N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000041635 Gene: ENSMUSG00000035673 AA Change: T46N
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 |
noncoding transcript
Transcript: ENSMUST00000217683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218462
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218630
AA Change: T46N
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219258
AA Change: T46N
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219260
AA Change: T46N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (55/56) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Acacb |
A |
T |
5: 114,367,813 (GRCm39) |
M1604L |
possibly damaging |
Het |
Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
Adgrl1 |
T |
C |
8: 84,661,041 (GRCm39) |
|
probably benign |
Het |
Alppl2 |
C |
T |
1: 87,015,446 (GRCm39) |
V372I |
possibly damaging |
Het |
Apol8 |
C |
T |
15: 77,633,811 (GRCm39) |
S255N |
probably benign |
Het |
Atp8b4 |
A |
T |
2: 126,179,413 (GRCm39) |
F973I |
probably damaging |
Het |
Bbs4 |
A |
G |
9: 59,230,259 (GRCm39) |
*150Q |
probably null |
Het |
Bltp3a |
A |
T |
17: 28,106,152 (GRCm39) |
T893S |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,597,749 (GRCm39) |
|
probably benign |
Het |
Ccn1 |
C |
A |
3: 145,353,503 (GRCm39) |
C353F |
probably damaging |
Het |
Ccser2 |
C |
T |
14: 36,630,965 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
G |
8: 91,741,832 (GRCm39) |
E1607G |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,621,337 (GRCm39) |
I579T |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,626,278 (GRCm39) |
|
probably benign |
Het |
Creg2 |
T |
C |
1: 39,664,144 (GRCm39) |
I205V |
probably benign |
Het |
Ddx24 |
C |
T |
12: 103,390,166 (GRCm39) |
R275H |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,618,699 (GRCm39) |
A579T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,551,962 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
Gckr |
T |
C |
5: 31,484,259 (GRCm39) |
|
probably benign |
Het |
Gpbp1l1 |
A |
G |
4: 116,438,436 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,281,523 (GRCm39) |
T1913A |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,158,003 (GRCm39) |
|
probably benign |
Het |
Meioc |
G |
A |
11: 102,570,857 (GRCm39) |
V863I |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,096,751 (GRCm39) |
I341V |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,235,828 (GRCm39) |
T664A |
probably benign |
Het |
Myo3b |
A |
C |
2: 70,257,193 (GRCm39) |
D1269A |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,378,243 (GRCm39) |
|
probably null |
Het |
Nr3c2 |
A |
G |
8: 77,635,297 (GRCm39) |
|
probably null |
Het |
Nxpe5 |
T |
C |
5: 138,238,186 (GRCm39) |
S249P |
probably damaging |
Het |
Or52z1 |
C |
T |
7: 103,436,604 (GRCm39) |
M293I |
probably benign |
Het |
Or8k16 |
A |
G |
2: 85,520,709 (GRCm39) |
N312S |
probably benign |
Het |
Or9a4 |
T |
C |
6: 40,549,139 (GRCm39) |
V273A |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,949,296 (GRCm39) |
T675I |
probably damaging |
Het |
Plekhm1 |
C |
A |
11: 103,285,908 (GRCm39) |
E176* |
probably null |
Het |
Prdm11 |
C |
A |
2: 92,819,567 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
C |
A |
7: 30,205,706 (GRCm39) |
R218S |
probably damaging |
Het |
Rps15a |
T |
C |
7: 117,714,060 (GRCm39) |
D54G |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,697,243 (GRCm39) |
|
probably benign |
Het |
Sema3c |
T |
C |
5: 17,926,907 (GRCm39) |
F567L |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,116,780 (GRCm39) |
|
probably benign |
Het |
Spaca6 |
A |
T |
17: 18,058,653 (GRCm39) |
E284V |
possibly damaging |
Het |
Srsf3 |
C |
A |
17: 29,255,412 (GRCm39) |
L66I |
probably damaging |
Het |
Srsf3 |
T |
A |
17: 29,255,413 (GRCm39) |
L66Q |
probably damaging |
Het |
Syne1 |
T |
C |
10: 4,993,652 (GRCm39) |
T8363A |
possibly damaging |
Het |
Trmt1 |
T |
A |
8: 85,423,481 (GRCm39) |
L298Q |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,267,260 (GRCm39) |
I923V |
possibly damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,487,859 (GRCm39) |
H847Y |
probably benign |
Het |
Vmn2r15 |
T |
C |
5: 109,445,401 (GRCm39) |
T8A |
probably benign |
Het |
Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
Zbtb41 |
T |
G |
1: 139,366,769 (GRCm39) |
F583V |
probably damaging |
Het |
Zfp938 |
T |
A |
10: 82,061,253 (GRCm39) |
I456F |
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 |
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 |
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'- TCTCCCCAGGCAAACTCCTTCTAAG -3'
(R):5'- GAACCTCAGCTTTTCCAGGGTACAC -3'
Sequencing Primer
(F):5'- CTTCTAAGCCTTTAAAAGCCAGG -3'
(R):5'- cccacccccatcctctc -3'
|
Posted On |
2013-11-07 |