Incidental Mutation 'R5828:Sbno2'
| ID |
450276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79902424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 475
(S475F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219258]
[ENSMUST00000219260]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042771
AA Change: S491F
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: S491F
| 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: ENSMUST00000217876
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217972
AA Change: S475F
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218630
AA Change: S491F
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219260
AA Change: S491F
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (63/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,144 (GRCm39) |
D95G |
unknown |
Het |
| Arl10 |
T |
A |
13: 54,726,768 (GRCm39) |
V182E |
probably damaging |
Het |
| Cacna1g |
T |
G |
11: 94,347,980 (GRCm39) |
S703R |
probably damaging |
Het |
| Ces2a |
C |
A |
8: 105,465,956 (GRCm39) |
T363N |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,300,372 (GRCm39) |
V967I |
unknown |
Het |
| Col22a1 |
A |
T |
15: 71,881,340 (GRCm39) |
F4I |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,173,302 (GRCm39) |
W289R |
possibly damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,763 (GRCm39) |
Q793R |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,369,388 (GRCm39) |
T4337I |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,321,536 (GRCm39) |
V363D |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,242,699 (GRCm39) |
T1147A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,064,066 (GRCm39) |
Y2048N |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxred1 |
A |
G |
9: 35,121,492 (GRCm39) |
|
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,471 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
C |
9: 4,432,832 (GRCm39) |
L784V |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,738,956 (GRCm39) |
Y105C |
probably benign |
Het |
| Hpgd |
T |
C |
8: 56,772,106 (GRCm39) |
S193P |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,666,762 (GRCm39) |
W247R |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,494 (GRCm39) |
Q344R |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,267,993 (GRCm39) |
V72A |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 15,531,464 (GRCm39) |
V8M |
probably benign |
Het |
| Msmo1 |
T |
C |
8: 65,172,144 (GRCm39) |
H253R |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,640,124 (GRCm39) |
K150R |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,770,042 (GRCm39) |
E155G |
probably benign |
Het |
| Or12k7 |
A |
G |
2: 36,959,001 (GRCm39) |
H228R |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,728 (GRCm39) |
M90L |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,005 (GRCm39) |
V163A |
possibly damaging |
Het |
| Osbpl10 |
G |
A |
9: 114,890,944 (GRCm39) |
V111M |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,877,457 (GRCm39) |
S722P |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,414,064 (GRCm39) |
D187V |
probably damaging |
Het |
| Pmf1 |
T |
C |
3: 88,303,294 (GRCm39) |
E89G |
possibly damaging |
Het |
| Polr1d |
A |
T |
5: 147,014,408 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,158,200 (GRCm39) |
Y1006H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,537,134 (GRCm39) |
K420E |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,551,006 (GRCm39) |
L159P |
probably damaging |
Het |
| Psmd6 |
G |
T |
14: 14,119,990 (GRCm38) |
D39E |
probably benign |
Het |
| Rffl |
T |
C |
11: 82,709,244 (GRCm39) |
K60E |
probably damaging |
Het |
| Rspo2 |
A |
T |
15: 42,939,283 (GRCm39) |
L169Q |
probably damaging |
Het |
| Sbf1 |
T |
A |
15: 89,172,837 (GRCm39) |
D1892V |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,231,474 (GRCm39) |
V37E |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,137 (GRCm39) |
C35Y |
probably damaging |
Het |
| Slc22a27 |
G |
T |
19: 7,903,767 (GRCm39) |
D123E |
probably damaging |
Het |
| Smim23 |
T |
A |
11: 32,770,592 (GRCm39) |
K105* |
probably null |
Het |
| Soat1 |
C |
T |
1: 156,265,318 (GRCm39) |
S348N |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,851,811 (GRCm39) |
|
probably benign |
Het |
| St14 |
T |
A |
9: 31,002,803 (GRCm39) |
H700L |
probably damaging |
Het |
| St3gal1 |
T |
A |
15: 66,985,634 (GRCm39) |
K7* |
probably null |
Het |
| Tgm1 |
T |
C |
14: 55,943,011 (GRCm39) |
K610E |
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,583 (GRCm39) |
Y40N |
probably damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,585 (GRCm39) |
Y40* |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,477,130 (GRCm39) |
|
probably benign |
Het |
| Ttc9 |
C |
T |
12: 81,678,450 (GRCm39) |
P91L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,446 (GRCm39) |
S269P |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,650,410 (GRCm39) |
V858E |
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 |
|
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'- AAAGACTTGCTCCAGGTGACC -3'
(R):5'- AGCCCTATCTCTGCCTATGG -3'
Sequencing Primer
(F):5'- AGGTGACCTGATGCTGGC -3'
(R):5'- CTATCTCTGCCTATGGGGGTGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation