Incidental Mutation 'R4504:Sbno2'
| ID |
331934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
041755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79896326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 898
(R898L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000183037]
[ENSMUST00000218630]
[ENSMUST00000219260]
[ENSMUST00000217972]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042771
AA Change: R898L
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: R898L
| 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 |
noncoding transcript
Transcript: ENSMUST00000136081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154095
|
| 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: ENSMUST00000218630
AA Change: R898L
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219260
AA Change: R898L
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
| Meta Mutation Damage Score |
0.1790 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (45/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
| Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
| Carm1 |
T |
C |
9: 21,480,822 (GRCm39) |
F99L |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Fndc8 |
T |
A |
11: 82,783,226 (GRCm39) |
M69K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,699 (GRCm39) |
W296R |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Kif3b |
T |
C |
2: 153,165,564 (GRCm39) |
|
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
| Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
| Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
| Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
| Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
| Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly 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 |
|
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'- TGGGATCCTAGGGCACTTTG -3'
(R):5'- TTCTGGGGTATGCTAGAGCC -3'
Sequencing Primer
(F):5'- GCTCTCCCTAGAATTCCACCCAC -3'
(R):5'- GGTATGCTAGAGCCTGAATCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation