Incidental Mutation 'R7481:Sbno2'
| ID |
579822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
045555-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7481 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79893333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1323
(P1323S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000183037]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219260]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042771
AA Change: P1323S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: P1323S
| 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 |
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: ENSMUST00000217972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219260
AA Change: P1323S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,494,575 (GRCm39) |
F68S |
unknown |
Het |
| Abcb6 |
A |
G |
1: 75,150,248 (GRCm39) |
F637L |
probably damaging |
Het |
| Aldh3b3 |
A |
G |
19: 4,014,549 (GRCm39) |
M95V |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,858,134 (GRCm39) |
H387L |
possibly damaging |
Het |
| Avil |
C |
T |
10: 126,843,460 (GRCm39) |
T130I |
probably benign |
Het |
| Bmal2 |
G |
A |
6: 146,720,369 (GRCm39) |
A178T |
not run |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C3 |
C |
A |
17: 57,527,136 (GRCm39) |
W771L |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,844,357 (GRCm39) |
I926M |
|
Het |
| Cacna1b |
G |
A |
2: 24,506,874 (GRCm39) |
L1903F |
probably damaging |
Het |
| Car3 |
A |
T |
3: 14,928,632 (GRCm39) |
M1L |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,202,398 (GRCm39) |
I299T |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,066 (GRCm39) |
T502I |
unknown |
Het |
| Clec4a1 |
G |
A |
6: 122,904,998 (GRCm39) |
C99Y |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,681,241 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
T |
9: 86,417,985 (GRCm39) |
K1951N |
probably damaging |
Het |
| Dpf3 |
A |
C |
12: 83,378,701 (GRCm39) |
L122R |
probably damaging |
Het |
| Edem3 |
A |
T |
1: 151,683,973 (GRCm39) |
S687C |
probably damaging |
Het |
| Edem3 |
G |
A |
1: 151,683,974 (GRCm39) |
S687N |
possibly damaging |
Het |
| Fig4 |
A |
G |
10: 41,106,001 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
A |
G |
2: 52,998,443 (GRCm39) |
T603A |
unknown |
Het |
| Frmd6 |
T |
A |
12: 70,933,829 (GRCm39) |
L249Q |
probably damaging |
Het |
| Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gm6133 |
A |
T |
18: 78,393,008 (GRCm39) |
M1L |
probably benign |
Het |
| Gm9195 |
G |
A |
14: 72,720,116 (GRCm39) |
T105I |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,737,150 (GRCm39) |
T54I |
probably benign |
Het |
| Jade1 |
G |
A |
3: 41,559,125 (GRCm39) |
G402D |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,720,368 (GRCm39) |
D3873G |
unknown |
Het |
| Map6 |
A |
T |
7: 98,918,345 (GRCm39) |
T373S |
possibly damaging |
Het |
| Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
| Mtcl3 |
G |
T |
10: 29,072,519 (GRCm39) |
V604L |
probably damaging |
Het |
| Mtus1 |
T |
A |
8: 41,537,652 (GRCm39) |
K21N |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,414,908 (GRCm39) |
T2618I |
unknown |
Het |
| Nbas |
A |
G |
12: 13,406,960 (GRCm39) |
I852M |
probably damaging |
Het |
| Or14j1 |
T |
A |
17: 38,146,289 (GRCm39) |
M133K |
probably damaging |
Het |
| Or4a70 |
C |
T |
2: 89,324,636 (GRCm39) |
V7I |
probably benign |
Het |
| Or5b121 |
A |
T |
19: 13,507,817 (GRCm39) |
Q304L |
probably damaging |
Het |
| Or5d39 |
A |
G |
2: 87,980,105 (GRCm39) |
I86T |
probably benign |
Het |
| Pank4 |
A |
G |
4: 155,054,495 (GRCm39) |
N156S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,990 (GRCm39) |
E682G |
probably benign |
Het |
| Pde10a |
C |
A |
17: 9,168,262 (GRCm39) |
D312E |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,376,307 (GRCm39) |
T990A |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,609 (GRCm39) |
T156A |
probably damaging |
Het |
| Rhbdd2 |
T |
A |
5: 135,665,031 (GRCm39) |
S121T |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,508,438 (GRCm39) |
R3418S |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,508,439 (GRCm39) |
R3418M |
possibly damaging |
Het |
| Sec24d |
T |
C |
3: 123,144,412 (GRCm39) |
C630R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
A |
T |
15: 9,113,905 (GRCm39) |
V371E |
probably damaging |
Het |
| Strbp |
A |
T |
2: 37,490,766 (GRCm39) |
S496R |
probably benign |
Het |
| Stxbp4 |
G |
A |
11: 90,485,639 (GRCm39) |
T236I |
possibly damaging |
Het |
| Terf2 |
C |
T |
8: 107,799,353 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
T |
2: 21,216,599 (GRCm39) |
T118S |
probably benign |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,546 (GRCm39) |
V295E |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,045,672 (GRCm39) |
T630A |
probably benign |
Het |
| Usp9y |
G |
T |
Y: 1,432,180 (GRCm39) |
A435E |
probably benign |
Het |
| Vil1 |
A |
C |
1: 74,459,058 (GRCm39) |
R187S |
probably damaging |
Het |
| Vmn2r31 |
A |
T |
7: 7,387,579 (GRCm39) |
V664E |
possibly damaging |
Het |
| Wdr17 |
T |
C |
8: 55,114,371 (GRCm39) |
I693M |
probably benign |
Het |
| Wdr82 |
C |
T |
9: 106,053,865 (GRCm39) |
T72I |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,994,905 (GRCm39) |
S160P |
probably benign |
Het |
| Zfat |
G |
A |
15: 68,050,715 (GRCm39) |
Q769* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp937 |
T |
A |
2: 150,081,266 (GRCm39) |
I432K |
probably benign |
Het |
| Zglp1 |
C |
T |
9: 20,973,903 (GRCm39) |
S261N |
probably benign |
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 |
|
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 |
|
|
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'- CAGGCACCTCAGTAGTCATG -3'
(R):5'- TGAGGTGCTGGACTTGACCTAC -3'
Sequencing Primer
(F):5'- ACCTCAGTAGTCATGGGAGC -3'
(R):5'- GTGCTGGACTTGACCTACAGTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation