Incidental Mutation 'R1634:Sbno2'
ID |
172999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno2
|
Ensembl Gene |
ENSMUSG00000035673 |
Gene Name |
strawberry notch 2 |
Synonyms |
Stno |
MMRRC Submission |
039671-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1634 (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 79896468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 880
(A880S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151854
(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: A880S
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000041635 Gene: ENSMUSG00000035673 AA Change: A880S
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 |
possibly damaging
Transcript: ENSMUST00000218630
AA Change: A880S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219260
AA Change: A880S
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217876
|
Meta Mutation Damage Score |
0.0785 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.4%
|
Validation Efficiency |
97% (67/69) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,295,180 (GRCm39) |
F222I |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,105,127 (GRCm39) |
C173S |
possibly damaging |
Het |
Ahi1 |
T |
C |
10: 20,841,592 (GRCm39) |
V293A |
probably damaging |
Het |
AI182371 |
A |
T |
2: 34,976,497 (GRCm39) |
Y223N |
probably damaging |
Het |
Asmt |
C |
A |
X: 169,109,564 (GRCm39) |
F181L |
probably damaging |
Het |
Axin1 |
T |
A |
17: 26,406,965 (GRCm39) |
H519Q |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,715,632 (GRCm39) |
V660E |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,809 (GRCm39) |
R852H |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,866,778 (GRCm39) |
V230A |
possibly damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,408,656 (GRCm39) |
N988K |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,051,556 (GRCm39) |
I767T |
probably damaging |
Het |
Dgki |
A |
G |
6: 36,892,425 (GRCm39) |
M851T |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,932,072 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,584,047 (GRCm39) |
E504G |
probably damaging |
Het |
Dzank1 |
G |
A |
2: 144,323,589 (GRCm39) |
A618V |
probably benign |
Het |
Entrep3 |
A |
C |
3: 89,095,401 (GRCm39) |
Y511S |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,158,510 (GRCm39) |
S3403C |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,175,545 (GRCm39) |
V1723I |
probably benign |
Het |
Flt1 |
A |
T |
5: 147,613,240 (GRCm39) |
F334I |
probably damaging |
Het |
Galnt12 |
G |
T |
4: 47,108,585 (GRCm39) |
|
probably null |
Het |
Gzmc |
T |
C |
14: 56,469,737 (GRCm39) |
I188V |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,380,820 (GRCm39) |
S3566P |
possibly damaging |
Het |
Hoxb4 |
C |
A |
11: 96,211,099 (GRCm39) |
|
probably benign |
Het |
Idh3b |
C |
T |
2: 130,123,665 (GRCm39) |
V141I |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,393,529 (GRCm39) |
S1249P |
probably benign |
Het |
Leo1 |
T |
C |
9: 75,373,542 (GRCm39) |
Y656H |
possibly damaging |
Het |
Map3k20 |
G |
A |
2: 72,240,521 (GRCm39) |
W339* |
probably null |
Het |
Map3k5 |
T |
C |
10: 20,012,657 (GRCm39) |
V1259A |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,698,812 (GRCm39) |
D631G |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,499,706 (GRCm39) |
S713P |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,350,984 (GRCm39) |
V571E |
possibly damaging |
Het |
Nell1 |
A |
G |
7: 50,498,306 (GRCm39) |
D574G |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,967,722 (GRCm39) |
Y392C |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,286,688 (GRCm39) |
L181P |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,231 (GRCm39) |
Y649F |
probably benign |
Het |
Or1f19 |
A |
G |
16: 3,411,073 (GRCm39) |
D271G |
probably benign |
Het |
Or4k45 |
T |
C |
2: 111,395,691 (GRCm39) |
M33V |
probably benign |
Het |
Prkcg |
A |
G |
7: 3,371,986 (GRCm39) |
D484G |
probably damaging |
Het |
Rab27a |
T |
C |
9: 72,982,851 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rgl1 |
C |
T |
1: 152,400,523 (GRCm39) |
R624H |
probably damaging |
Het |
Ric8b |
G |
A |
10: 84,806,612 (GRCm39) |
G159D |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,318,361 (GRCm39) |
S1477P |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,139,243 (GRCm39) |
|
probably benign |
Het |
Snx14 |
T |
C |
9: 88,267,792 (GRCm39) |
I714M |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,289,543 (GRCm39) |
|
probably benign |
Het |
Sphk2 |
T |
A |
7: 45,360,964 (GRCm39) |
T347S |
probably benign |
Het |
Spns1 |
C |
T |
7: 125,970,343 (GRCm39) |
|
probably benign |
Het |
Susd2 |
A |
G |
10: 75,473,389 (GRCm39) |
V675A |
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,044,390 (GRCm39) |
D566V |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,123,830 (GRCm39) |
I464N |
possibly damaging |
Het |
Tex261 |
A |
T |
6: 83,752,004 (GRCm39) |
I49N |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,700 (GRCm39) |
F1545L |
possibly damaging |
Het |
Tmem176b |
A |
G |
6: 48,811,500 (GRCm39) |
S216P |
probably damaging |
Het |
Topaz1 |
C |
T |
9: 122,609,740 (GRCm39) |
|
probably benign |
Het |
Tra2a |
C |
T |
6: 49,227,891 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,553,126 (GRCm39) |
F22794S |
possibly damaging |
Het |
Uox |
G |
A |
3: 146,318,138 (GRCm39) |
W93* |
probably null |
Het |
Zan |
A |
T |
5: 137,411,052 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,158 (GRCm39) |
R750* |
probably null |
Het |
Zfp638 |
A |
T |
6: 83,956,894 (GRCm39) |
|
probably null |
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 |
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'- CGTCTGGCCCATGATTGTAGCAAG -3'
(R):5'- AGCACCCGAGTACGTCTTCCTTATC -3'
Sequencing Primer
(F):5'- CCATGATTGTAGCAAGGACGC -3'
(R):5'- CTTATCTCAGAACTGGCAGGG -3'
|
Posted On |
2014-04-24 |