Incidental Mutation 'IGL02071:Sbno2'
| ID |
185820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79896475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 877
(D877E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000183037]
[ENSMUST00000218630]
[ENSMUST00000219260]
[ENSMUST00000217972]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042771
AA Change: D877E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: D877E
| 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 damaging
Transcript: ENSMUST00000218630
AA Change: D877E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219260
AA Change: D877E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,400,676 (GRCm39) |
R92C |
probably damaging |
Het |
| Adam29 |
C |
A |
8: 56,324,589 (GRCm39) |
V622L |
possibly damaging |
Het |
| Bzw2 |
T |
C |
12: 36,157,502 (GRCm39) |
H321R |
probably benign |
Het |
| C2cd2 |
C |
T |
16: 97,671,432 (GRCm39) |
R489Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,359,339 (GRCm39) |
T253I |
possibly damaging |
Het |
| Col4a3 |
T |
G |
1: 82,638,608 (GRCm39) |
|
probably null |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,309 (GRCm39) |
T168A |
possibly damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,132,914 (GRCm39) |
L97P |
possibly damaging |
Het |
| Dpep2 |
A |
T |
8: 106,711,776 (GRCm39) |
H550Q |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,895,626 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,204,149 (GRCm39) |
|
probably null |
Het |
| Fxyd5 |
A |
G |
7: 30,739,613 (GRCm39) |
V32A |
possibly damaging |
Het |
| Itprid1 |
C |
A |
6: 55,944,710 (GRCm39) |
S477* |
probably null |
Het |
| Mak16 |
A |
T |
8: 31,650,557 (GRCm39) |
S251T |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,747 (GRCm39) |
V116A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,392,343 (GRCm39) |
R50* |
probably null |
Het |
| Nckap5 |
G |
A |
1: 125,909,305 (GRCm39) |
P272L |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,334,947 (GRCm39) |
V933E |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,783 (GRCm39) |
V749E |
probably damaging |
Het |
| Or51e2 |
A |
C |
7: 102,391,355 (GRCm39) |
V285G |
probably damaging |
Het |
| Or5al1 |
C |
A |
2: 85,990,219 (GRCm39) |
R165L |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,929,176 (GRCm39) |
Y417C |
probably damaging |
Het |
| Otop1 |
G |
A |
5: 38,445,327 (GRCm39) |
A162T |
probably damaging |
Het |
| Patl1 |
C |
A |
19: 11,917,054 (GRCm39) |
P634T |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,930,936 (GRCm39) |
S28T |
probably benign |
Het |
| Prkar2b |
C |
T |
12: 32,013,016 (GRCm39) |
G367R |
probably damaging |
Het |
| Rbl2 |
G |
A |
8: 91,828,826 (GRCm39) |
V576I |
probably damaging |
Het |
| Rgl3 |
C |
T |
9: 21,899,559 (GRCm39) |
A53T |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,415,533 (GRCm39) |
I1860F |
possibly damaging |
Het |
| Sectm1b |
C |
T |
11: 120,946,761 (GRCm39) |
V45I |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,763 (GRCm39) |
V741I |
probably benign |
Het |
| Sugt1 |
T |
A |
14: 79,847,723 (GRCm39) |
L191* |
probably null |
Het |
| Tcf21 |
A |
T |
10: 22,693,709 (GRCm39) |
V156E |
possibly damaging |
Het |
| Tep1 |
T |
A |
14: 51,071,506 (GRCm39) |
R2046S |
possibly damaging |
Het |
| Tmem181a |
T |
C |
17: 6,347,531 (GRCm39) |
F241S |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,138 (GRCm39) |
C296Y |
probably benign |
Het |
| Trim40 |
A |
G |
17: 37,200,070 (GRCm39) |
S3P |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,619,130 (GRCm39) |
Y266N |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,225,071 (GRCm39) |
N177S |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation