Incidental Mutation 'R5665:Sbno2'
| ID |
444356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
043308-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5665 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80056992-80105571 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80058453 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1099
(L1099P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151590
(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: L1099P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: L1099P
| 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 |
noncoding transcript
Transcript: ENSMUST00000217876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218630
AA Change: L1098P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219260
AA Change: L1099P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,245,294 (GRCm38) |
E492* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,616,543 (GRCm38) |
K206M |
probably benign |
Het |
| Agbl1 |
T |
A |
7: 76,589,503 (GRCm38) |
F584I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 21,055,047 (GRCm38) |
I929V |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 70,002,565 (GRCm38) |
R1566K |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,000,900 (GRCm38) |
I1279V |
possibly damaging |
Het |
| Arl14 |
A |
C |
3: 69,223,038 (GRCm38) |
T173P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,312,453 (GRCm38) |
S44P |
probably damaging |
Het |
| Btbd7 |
C |
A |
12: 102,785,197 (GRCm38) |
A1103S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,937,931 (GRCm38) |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,369,802 (GRCm38) |
F719L |
probably benign |
Het |
| Casp7 |
G |
A |
19: 56,440,982 (GRCm38) |
D267N |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,814,290 (GRCm38) |
K348N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,703,110 (GRCm38) |
F13L |
probably benign |
Het |
| Clcn6 |
T |
A |
4: 148,014,561 (GRCm38) |
M442L |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,827,880 (GRCm38) |
E229G |
probably benign |
Het |
| Cyb5r3 |
A |
G |
15: 83,154,554 (GRCm38) |
F278S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 35,891,086 (GRCm38) |
Q1002* |
probably null |
Het |
| Dppa4 |
T |
C |
16: 48,291,015 (GRCm38) |
L121P |
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,917,092 (GRCm38) |
E383G |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 138,126,589 (GRCm38) |
T489A |
probably benign |
Het |
| Elovl1 |
G |
T |
4: 118,431,635 (GRCm38) |
V174L |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,551,402 (GRCm38) |
K392E |
possibly damaging |
Het |
| Fancd2os |
C |
A |
6: 113,598,024 (GRCm38) |
W7L |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 101,110,784 (GRCm38) |
T23A |
possibly damaging |
Het |
| Gabrp |
C |
G |
11: 33,554,308 (GRCm38) |
A336P |
possibly damaging |
Het |
| Gcm2 |
T |
A |
13: 41,109,911 (GRCm38) |
Y15F |
possibly damaging |
Het |
| Gpr132 |
G |
A |
12: 112,852,796 (GRCm38) |
R137C |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,465,435 (GRCm38) |
E3091G |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,356,102 (GRCm38) |
M184L |
probably benign |
Het |
| Izumo1r |
T |
C |
9: 14,900,849 (GRCm38) |
E117G |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,901,909 (GRCm38) |
Q590* |
probably null |
Het |
| Lama1 |
G |
T |
17: 67,770,987 (GRCm38) |
C1139F |
probably damaging |
Het |
| Med29 |
C |
T |
7: 28,386,814 (GRCm38) |
A190T |
probably benign |
Het |
| Mgea5 |
A |
C |
19: 45,776,997 (GRCm38) |
S124A |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,750,782 (GRCm38) |
V220A |
probably benign |
Het |
| Mxra8 |
G |
T |
4: 155,842,921 (GRCm38) |
V388L |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,144,181 (GRCm38) |
|
probably null |
Het |
| Myrip |
A |
G |
9: 120,461,433 (GRCm38) |
Y706C |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,506,485 (GRCm38) |
V313A |
probably benign |
Het |
| Olfm2 |
T |
G |
9: 20,668,544 (GRCm38) |
|
probably null |
Het |
| Olfr1113 |
T |
A |
2: 87,213,728 (GRCm38) |
S279T |
probably benign |
Het |
| Olfr248 |
T |
C |
1: 174,391,375 (GRCm38) |
F102S |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,626,788 (GRCm38) |
P1398L |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,114,811 (GRCm38) |
E225G |
possibly damaging |
Het |
| Pigs |
C |
A |
11: 78,328,769 (GRCm38) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,588,531 (GRCm38) |
T159S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,813,586 (GRCm38) |
T87A |
possibly damaging |
Het |
| Plxna4 |
T |
C |
6: 32,215,722 (GRCm38) |
Y768C |
probably damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,159,081 (GRCm38) |
|
probably null |
Het |
| Pygb |
T |
C |
2: 150,820,888 (GRCm38) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,510,934 (GRCm38) |
I118T |
possibly damaging |
Het |
| Scaper |
T |
C |
9: 55,807,632 (GRCm38) |
K791E |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,771,545 (GRCm38) |
T194A |
probably damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,321,403 (GRCm38) |
S617P |
possibly damaging |
Het |
| Slk |
G |
A |
19: 47,636,457 (GRCm38) |
R1039H |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,792,139 (GRCm38) |
E227V |
probably benign |
Het |
| Sostdc1 |
C |
A |
12: 36,314,408 (GRCm38) |
P39T |
probably benign |
Het |
| Spred1 |
C |
T |
2: 117,153,005 (GRCm38) |
R16* |
probably null |
Het |
| Srpk2 |
A |
G |
5: 23,518,477 (GRCm38) |
I547T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,759,314 (GRCm38) |
Y54H |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,266,147 (GRCm38) |
L272H |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,108,217 (GRCm38) |
|
probably null |
Het |
| Uso1 |
A |
T |
5: 92,198,337 (GRCm38) |
E793V |
possibly damaging |
Het |
| Usp15 |
A |
T |
10: 123,130,987 (GRCm38) |
L476* |
probably null |
Het |
| Vmn1r189 |
T |
C |
13: 22,102,166 (GRCm38) |
Y167C |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,786,979 (GRCm38) |
T272A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,668,690 (GRCm38) |
H1994Q |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,265,192 (GRCm38) |
S537P |
probably damaging |
Het |
| Zbtb12 |
T |
C |
17: 34,895,883 (GRCm38) |
S215P |
possibly damaging |
Het |
| Zfp346 |
T |
C |
13: 55,113,102 (GRCm38) |
M81T |
probably benign |
Het |
| Zfp800 |
T |
C |
6: 28,244,513 (GRCm38) |
D151G |
probably null |
Het |
|
| Other mutations in Sbno2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Sbno2
|
APN |
10 |
80,064,506 (GRCm38) |
splice site |
probably benign |
|
|
IGL01773:Sbno2
|
APN |
10 |
80,057,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01869:Sbno2
|
APN |
10 |
80,060,392 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01911:Sbno2
|
APN |
10 |
80,069,624 (GRCm38) |
nonsense |
probably null |
|
|
IGL02071:Sbno2
|
APN |
10 |
80,060,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02094:Sbno2
|
APN |
10 |
80,057,645 (GRCm38) |
missense |
probably benign |
|
|
IGL02220:Sbno2
|
APN |
10 |
80,072,368 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02366:Sbno2
|
APN |
10 |
80,064,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02608:Sbno2
|
APN |
10 |
80,067,402 (GRCm38) |
splice site |
probably null |
|
|
IGL03007:Sbno2
|
APN |
10 |
80,058,550 (GRCm38) |
splice site |
probably benign |
|
|
IGL03083:Sbno2
|
APN |
10 |
80,057,534 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03393:Sbno2
|
APN |
10 |
80,066,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Narcissus
|
UTSW |
10 |
80,062,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
psychopomp
|
UTSW |
10 |
80,060,016 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Unsafe
|
UTSW |
10 |
80,060,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0034:Sbno2
|
UTSW |
10 |
80,058,340 (GRCm38) |
splice site |
probably benign |
|
|
R0126:Sbno2
|
UTSW |
10 |
80,068,853 (GRCm38) |
splice site |
probably null |
|
|
R0652:Sbno2
|
UTSW |
10 |
80,067,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0964:Sbno2
|
UTSW |
10 |
80,084,259 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1571:Sbno2
|
UTSW |
10 |
80,060,392 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1601:Sbno2
|
UTSW |
10 |
80,060,492 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1634:Sbno2
|
UTSW |
10 |
80,060,634 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1733:Sbno2
|
UTSW |
10 |
80,058,508 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1762:Sbno2
|
UTSW |
10 |
80,066,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1832:Sbno2
|
UTSW |
10 |
80,060,605 (GRCm38) |
nonsense |
probably null |
|
|
R1859:Sbno2
|
UTSW |
10 |
80,058,639 (GRCm38) |
nonsense |
probably null |
|
|
R2086:Sbno2
|
UTSW |
10 |
80,057,856 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2136:Sbno2
|
UTSW |
10 |
80,062,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2360:Sbno2
|
UTSW |
10 |
80,058,021 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4426:Sbno2
|
UTSW |
10 |
80,072,358 (GRCm38) |
missense |
probably null |
0.02 |
|
R4504:Sbno2
|
UTSW |
10 |
80,060,492 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4692:Sbno2
|
UTSW |
10 |
80,086,327 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5044:Sbno2
|
UTSW |
10 |
80,062,188 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5166:Sbno2
|
UTSW |
10 |
80,066,928 (GRCm38) |
nonsense |
probably null |
|
|
R5576:Sbno2
|
UTSW |
10 |
80,067,337 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5709:Sbno2
|
UTSW |
10 |
80,086,337 (GRCm38) |
start codon destroyed |
probably null |
0.89 |
|
R5828:Sbno2
|
UTSW |
10 |
80,066,590 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6192:Sbno2
|
UTSW |
10 |
80,060,016 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6971:Sbno2
|
UTSW |
10 |
80,060,034 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7012:Sbno2
|
UTSW |
10 |
80,069,518 (GRCm38) |
intron |
probably benign |
|
|
R7082:Sbno2
|
UTSW |
10 |
80,060,090 (GRCm38) |
splice site |
probably null |
|
|
R7133:Sbno2
|
UTSW |
10 |
80,086,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7438:Sbno2
|
UTSW |
10 |
80,069,575 (GRCm38) |
missense |
unknown |
|
|
R7481:Sbno2
|
UTSW |
10 |
80,057,499 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7746:Sbno2
|
UTSW |
10 |
80,058,874 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7964:Sbno2
|
UTSW |
10 |
80,068,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8055:Sbno2
|
UTSW |
10 |
80,069,431 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8221:Sbno2
|
UTSW |
10 |
80,070,011 (GRCm38) |
missense |
probably benign |
|
|
R8329:Sbno2
|
UTSW |
10 |
80,064,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8725:Sbno2
|
UTSW |
10 |
80,075,256 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8727:Sbno2
|
UTSW |
10 |
80,075,256 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8840:Sbno2
|
UTSW |
10 |
80,057,526 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8932:Sbno2
|
UTSW |
10 |
80,062,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8954:Sbno2
|
UTSW |
10 |
80,057,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9003:Sbno2
|
UTSW |
10 |
80,060,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9034:Sbno2
|
UTSW |
10 |
80,062,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Sbno2
|
UTSW |
10 |
80,057,459 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACTGCAGTGCTCCAAG -3'
(R):5'- AAGGTCCCTATGATGGCTTCTAC -3'
Sequencing Primer
(F):5'- ACTGCAGTGCTCCAAGGACAG -3'
(R):5'- TACAAGGTGAGTTGTCCCAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation