Incidental Mutation 'IGL03007:Sbno2'
| ID |
407612 |
| 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 # |
IGL03007
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 79894384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000183037]
[ENSMUST00000219260]
[ENSMUST00000217972]
[ENSMUST00000218630]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042771
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
| 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: ENSMUST00000145703
|
| 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: ENSMUST00000219260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218630
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,098,034 (GRCm39) |
N144D |
possibly damaging |
Het |
| A830031A19Rik |
T |
C |
11: 23,999,248 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,641,347 (GRCm39) |
F640S |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,040,615 (GRCm39) |
Y16H |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,496,193 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,651,542 (GRCm39) |
V145E |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,394,444 (GRCm39) |
T183A |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,159,690 (GRCm39) |
V56A |
probably damaging |
Het |
| Erbb2 |
A |
C |
11: 98,319,819 (GRCm39) |
|
probably benign |
Het |
| Ighv6-4 |
A |
T |
12: 114,370,213 (GRCm39) |
Y80N |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,378 (GRCm39) |
S782P |
probably damaging |
Het |
| Itsn1 |
A |
T |
16: 91,581,050 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,282,245 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,680,401 (GRCm39) |
F359S |
probably damaging |
Het |
| Mtmr6 |
G |
T |
14: 60,526,984 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,570,866 (GRCm39) |
S642F |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,389,114 (GRCm39) |
I54F |
possibly damaging |
Het |
| Nfx1 |
C |
A |
4: 40,984,962 (GRCm39) |
T362K |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,690,050 (GRCm39) |
S449G |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,598,811 (GRCm39) |
H230Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,767 (GRCm39) |
V138A |
possibly damaging |
Het |
| Or10h28 |
A |
G |
17: 33,487,857 (GRCm39) |
E53G |
probably damaging |
Het |
| Or1j19 |
T |
C |
2: 36,676,812 (GRCm39) |
S92P |
probably damaging |
Het |
| Or8d1 |
C |
T |
9: 38,766,592 (GRCm39) |
T78I |
probably damaging |
Het |
| Plekhh2 |
A |
C |
17: 84,882,388 (GRCm39) |
S665R |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,378,294 (GRCm39) |
F155I |
probably damaging |
Het |
| Rcor2 |
C |
A |
19: 7,251,718 (GRCm39) |
T379K |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,020,699 (GRCm39) |
N574S |
probably benign |
Het |
| Rsbn1 |
C |
T |
3: 103,836,195 (GRCm39) |
A411V |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,668,115 (GRCm39) |
S661P |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,900,778 (GRCm39) |
M370K |
possibly damaging |
Het |
| Tex101 |
G |
A |
7: 24,369,906 (GRCm39) |
|
probably benign |
Het |
| Tmem255b |
C |
T |
8: 13,507,066 (GRCm39) |
T265I |
possibly damaging |
Het |
| Trio |
G |
T |
15: 27,902,828 (GRCm39) |
A211D |
probably damaging |
Het |
| Zfp638 |
C |
A |
6: 83,961,866 (GRCm39) |
Q1902K |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation