Incidental Mutation 'R6192:Sbno2'
| ID |
502659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
044332-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79895850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 977
(L977Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000218630]
[ENSMUST00000219260]
[ENSMUST00000217972]
[ENSMUST00000183037]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042771
AA Change: L977Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: L977Q
| 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 damaging
Transcript: ENSMUST00000218630
AA Change: L977Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219260
AA Change: L977Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
| 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 |
|
| Meta Mutation Damage Score |
0.8935 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,774,002 (GRCm39) |
E1137G |
probably damaging |
Het |
| Adcy9 |
T |
C |
16: 4,105,818 (GRCm39) |
I1099V |
probably benign |
Het |
| Angptl4 |
A |
T |
17: 33,996,015 (GRCm39) |
N320K |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,767,268 (GRCm39) |
M10I |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,042,318 (GRCm39) |
T2768I |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,361,135 (GRCm39) |
S395P |
probably benign |
Het |
| Cenpe |
C |
T |
3: 134,954,291 (GRCm39) |
T1716I |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,820,625 (GRCm39) |
Y287H |
probably benign |
Het |
| Col4a4 |
G |
T |
1: 82,462,151 (GRCm39) |
P1075T |
probably damaging |
Het |
| Cryab |
T |
A |
9: 50,665,813 (GRCm39) |
M68K |
probably damaging |
Het |
| Cybrd1 |
T |
A |
2: 70,967,858 (GRCm39) |
L143Q |
probably null |
Het |
| Dcaf7 |
T |
C |
11: 105,942,584 (GRCm39) |
V177A |
probably damaging |
Het |
| Dclk2 |
T |
C |
3: 86,722,457 (GRCm39) |
Y392C |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,586,036 (GRCm39) |
T770A |
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,095,456 (GRCm39) |
D501E |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,865,504 (GRCm39) |
Y26* |
probably null |
Het |
| Dnajc2 |
A |
G |
5: 21,973,646 (GRCm39) |
V196A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,362 (GRCm39) |
K827E |
probably damaging |
Het |
| Fam8a1 |
C |
T |
13: 46,823,099 (GRCm39) |
P13L |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,837,582 (GRCm39) |
S139G |
possibly damaging |
Het |
| Ggnbp1 |
G |
A |
17: 27,248,847 (GRCm39) |
V139I |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,264,330 (GRCm39) |
Y230N |
probably damaging |
Het |
| Gldc |
A |
G |
19: 30,111,172 (GRCm39) |
S535P |
probably damaging |
Het |
| Gm45871 |
A |
G |
18: 90,610,357 (GRCm39) |
T532A |
probably benign |
Het |
| Gm5431 |
T |
A |
11: 48,785,220 (GRCm39) |
D107V |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,857,510 (GRCm39) |
T4031M |
probably damaging |
Het |
| Iffo2 |
G |
A |
4: 139,333,769 (GRCm39) |
A282T |
probably damaging |
Het |
| Ifi44 |
T |
G |
3: 151,451,276 (GRCm39) |
|
probably null |
Het |
| Igkv4-53 |
C |
T |
6: 69,625,915 (GRCm39) |
R62H |
possibly damaging |
Het |
| Lrp11 |
A |
C |
10: 7,474,454 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
G |
2: 91,338,833 (GRCm39) |
T1755A |
probably benign |
Het |
| Mcm3ap |
A |
T |
10: 76,336,934 (GRCm39) |
K1316M |
probably damaging |
Het |
| Mctp1 |
T |
G |
13: 76,971,082 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
A |
T |
15: 73,662,630 (GRCm39) |
I396N |
probably damaging |
Het |
| Mrps5 |
T |
A |
2: 127,443,305 (GRCm39) |
H294Q |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,569,985 (GRCm39) |
S845T |
unknown |
Het |
| Mycbpap |
A |
T |
11: 94,398,557 (GRCm39) |
V474E |
probably damaging |
Het |
| Mzt2 |
G |
C |
16: 15,666,551 (GRCm39) |
S122W |
probably benign |
Het |
| Neb |
T |
C |
2: 52,146,802 (GRCm39) |
I2821V |
probably benign |
Het |
| Ngef |
A |
T |
1: 87,415,622 (GRCm39) |
D347E |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,781,646 (GRCm39) |
V281A |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,888,864 (GRCm39) |
Y7597N |
unknown |
Het |
| Or4k47 |
T |
C |
2: 111,451,520 (GRCm39) |
R300G |
possibly damaging |
Het |
| Patj |
G |
T |
4: 98,344,394 (GRCm39) |
G569W |
probably damaging |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,973,583 (GRCm39) |
T361S |
unknown |
Het |
| Pik3r6 |
A |
G |
11: 68,434,455 (GRCm39) |
E552G |
probably damaging |
Het |
| Pitx2 |
A |
G |
3: 129,009,521 (GRCm39) |
T147A |
probably benign |
Het |
| Pkmyt1 |
G |
A |
17: 23,953,167 (GRCm39) |
G241D |
probably damaging |
Het |
| Pola2 |
A |
T |
19: 6,003,802 (GRCm39) |
V191D |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,291,367 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
T |
C |
2: 71,811,661 (GRCm39) |
S11P |
probably benign |
Het |
| Rnf10 |
G |
A |
5: 115,395,136 (GRCm39) |
R151C |
probably damaging |
Het |
| Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Sec14l3 |
G |
A |
11: 4,025,566 (GRCm39) |
|
probably null |
Het |
| Serping1 |
A |
T |
2: 84,600,612 (GRCm39) |
N243K |
possibly damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,334,779 (GRCm39) |
I231F |
probably damaging |
Het |
| Spag8 |
A |
G |
4: 43,652,458 (GRCm39) |
F294S |
probably damaging |
Het |
| Speer4f1 |
G |
A |
5: 17,684,493 (GRCm39) |
A174T |
probably damaging |
Het |
| Spred3 |
T |
C |
7: 28,862,402 (GRCm39) |
D147G |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,527,241 (GRCm39) |
D1166G |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,104,536 (GRCm39) |
T1229K |
possibly damaging |
Het |
| Tanc1 |
T |
A |
2: 59,669,305 (GRCm39) |
|
probably null |
Het |
| Tmem232 |
T |
C |
17: 65,737,800 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tubd1 |
A |
T |
11: 86,448,619 (GRCm39) |
M311L |
probably benign |
Het |
| Tulp3 |
G |
A |
6: 128,332,703 (GRCm39) |
|
probably null |
Het |
| Usp42 |
T |
C |
5: 143,702,942 (GRCm39) |
T560A |
possibly damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,934 (GRCm39) |
Y112F |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,322,699 (GRCm39) |
C7S |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,774,682 (GRCm39) |
M652T |
probably benign |
Het |
| Wsb1 |
G |
A |
11: 79,139,336 (GRCm39) |
P120L |
possibly damaging |
Het |
| Zfp142 |
T |
C |
1: 74,609,667 (GRCm39) |
E1376G |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
|
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'- CATAACAGACACAGTGGGCC -3'
(R):5'- TTCCCTCGCAGACATGAAG -3'
Sequencing Primer
(F):5'- ACACAGTGGGCCTCAGATG -3'
(R):5'- CCTGCTGTCTGTGGGCATC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation