Incidental Mutation 'R9034:Sbno2'
| ID |
687234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
068863-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9034 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79898591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 624
(R624W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219260]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042771
AA Change: R624W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: R624W
| 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 damaging
Transcript: ENSMUST00000217972
AA Change: R608W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218630
AA Change: R624W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219260
AA Change: R624W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
| Acvr2a |
T |
C |
2: 48,763,381 (GRCm39) |
Y142H |
probably damaging |
Het |
| Agfg1 |
C |
T |
1: 82,853,913 (GRCm39) |
Q188* |
probably null |
Het |
| Akap11 |
C |
A |
14: 78,748,299 (GRCm39) |
V1363F |
|
Het |
| Aldh3a1 |
A |
G |
11: 61,104,475 (GRCm39) |
T121A |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,387,180 (GRCm39) |
D1491E |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,952,268 (GRCm39) |
T617A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,359 (GRCm39) |
M362V |
|
Het |
| Cant1 |
T |
A |
11: 118,302,128 (GRCm39) |
H63L |
probably benign |
Het |
| Cdkn2aip |
C |
A |
8: 48,164,243 (GRCm39) |
C490F |
probably damaging |
Het |
| Cenpn |
T |
A |
8: 117,661,478 (GRCm39) |
D192E |
probably benign |
Het |
| Clint1 |
C |
A |
11: 45,799,782 (GRCm39) |
L514M |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,799,783 (GRCm39) |
L514Q |
possibly damaging |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,089 (GRCm39) |
F419S |
probably damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,122,417 (GRCm39) |
A328E |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 63,992,447 (GRCm39) |
S299P |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,435,961 (GRCm39) |
C256R |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,141 (GRCm39) |
T75A |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,532,952 (GRCm39) |
M69V |
probably benign |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,142,065 (GRCm39) |
E785K |
probably damaging |
Het |
| H2-M2 |
A |
T |
17: 37,792,176 (GRCm39) |
S325T |
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,795,885 (GRCm39) |
S261P |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,347,351 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,083,273 (GRCm39) |
V4A |
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,862,996 (GRCm39) |
|
probably benign |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,161 (GRCm39) |
N153K |
probably benign |
Het |
| Mfsd14b |
G |
T |
13: 65,223,500 (GRCm39) |
A178E |
probably damaging |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
T |
14: 55,185,596 (GRCm39) |
I1531N |
possibly damaging |
Het |
| Myo7a |
G |
T |
7: 97,728,465 (GRCm39) |
A836D |
probably benign |
Het |
| Ncam1 |
A |
T |
9: 49,481,198 (GRCm39) |
S19T |
probably benign |
Het |
| Nes |
T |
A |
3: 87,885,735 (GRCm39) |
D1331E |
probably damaging |
Het |
| Nsd2 |
G |
A |
5: 34,037,478 (GRCm39) |
R700Q |
possibly damaging |
Het |
| Nxt1 |
A |
T |
2: 148,517,331 (GRCm39) |
Y24F |
possibly damaging |
Het |
| Or14c39 |
G |
A |
7: 86,343,969 (GRCm39) |
V102I |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,293,835 (GRCm39) |
H248L |
probably damaging |
Het |
| Or5g24-ps1 |
A |
T |
2: 85,464,144 (GRCm39) |
T124S |
probably benign |
Het |
| Or6f2 |
G |
A |
7: 139,756,884 (GRCm39) |
V284I |
probably benign |
Het |
| Or8b40 |
G |
A |
9: 38,027,550 (GRCm39) |
V158M |
possibly damaging |
Het |
| Or8g50 |
G |
A |
9: 39,648,886 (GRCm39) |
M258I |
probably benign |
Het |
| Or9g20 |
G |
T |
2: 85,630,302 (GRCm39) |
A104E |
possibly damaging |
Het |
| Pex5l |
T |
A |
3: 33,006,683 (GRCm39) |
Q562L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,197 (GRCm39) |
Y1139C |
probably damaging |
Het |
| Prelp |
T |
C |
1: 133,842,329 (GRCm39) |
N272S |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,841,416 (GRCm39) |
K188R |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,927,642 (GRCm39) |
C1374S |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,361 (GRCm39) |
T103S |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,107,571 (GRCm39) |
E194G |
probably benign |
Het |
| Slc36a3 |
A |
T |
11: 55,016,515 (GRCm39) |
I360N |
probably damaging |
Het |
| Sphk1 |
T |
C |
11: 116,426,449 (GRCm39) |
V135A |
probably damaging |
Het |
| Tnfsf10 |
G |
A |
3: 27,389,379 (GRCm39) |
D147N |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,671,177 (GRCm39) |
C22Y |
probably damaging |
Het |
| Trmt9b |
C |
T |
8: 36,978,954 (GRCm39) |
R186* |
probably null |
Het |
| Trp73 |
T |
C |
4: 154,152,088 (GRCm39) |
T187A |
probably benign |
Het |
| Tspan33 |
C |
T |
6: 29,717,611 (GRCm39) |
Q276* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,542,871 (GRCm39) |
G33372R |
probably damaging |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,680 (GRCm39) |
T193S |
probably benign |
Het |
| Vps54 |
T |
C |
11: 21,213,273 (GRCm39) |
F19L |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,296,179 (GRCm39) |
T856A |
probably damaging |
Het |
| Zscan4b |
A |
T |
7: 10,634,840 (GRCm39) |
Y468N |
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 |
|
|
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 |
|
X0026:Sbno2
|
UTSW |
10 |
79,893,293 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGTCTGCTGCCTTGAGTC -3'
(R):5'- TCCTGGAGGGAATACAAGACAC -3'
Sequencing Primer
(F):5'- TGGATGATGGAGGCTCACC -3'
(R):5'- GGAGGGAATACAAGACACATCCAAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation