Incidental Mutation 'R9003:Sbno2'
| ID |
685100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbno2
|
| Ensembl Gene |
ENSMUSG00000035673 |
| Gene Name |
strawberry notch 2 |
| Synonyms |
Stno |
| MMRRC Submission |
068833-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9003 (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 79896049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 939
(V939E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000183037]
[ENSMUST00000217972]
[ENSMUST00000218630]
[ENSMUST00000219260]
|
| AlphaFold |
Q7TNB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042771
AA Change: V939E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: V939E
| 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 damaging
Transcript: ENSMUST00000218630
AA Change: V939E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219260
AA Change: V939E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8735 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,850,013 (GRCm39) |
H917Y |
possibly damaging |
Het |
| Acot4 |
A |
G |
12: 84,089,969 (GRCm39) |
K222R |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,306,744 (GRCm39) |
S1290G |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,411,799 (GRCm39) |
I1311V |
unknown |
Het |
| Asf1b |
G |
T |
8: 84,682,530 (GRCm39) |
E25* |
probably null |
Het |
| Atp10a |
T |
A |
7: 58,457,203 (GRCm39) |
W901R |
probably damaging |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,905 (GRCm39) |
T1253A |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,132 (GRCm39) |
T639A |
possibly damaging |
Het |
| Cdca4 |
A |
G |
12: 112,785,659 (GRCm39) |
V23A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,312,943 (GRCm39) |
F290L |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,533,072 (GRCm39) |
W653* |
probably null |
Het |
| Coa8 |
A |
G |
12: 111,688,189 (GRCm39) |
*45W |
probably null |
Het |
| Cpb2 |
A |
T |
14: 75,479,868 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,836,001 (GRCm39) |
V1215A |
possibly damaging |
Het |
| Cxxc4 |
A |
T |
3: 133,945,431 (GRCm39) |
N4I |
unknown |
Het |
| Eps8l1 |
G |
T |
7: 4,464,016 (GRCm39) |
V47F |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,587,097 (GRCm39) |
I537T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,176,591 (GRCm39) |
Y2040C |
probably damaging |
Het |
| Gfm2 |
T |
G |
13: 97,282,889 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,254,240 (GRCm39) |
M187L |
probably benign |
Het |
| Kif5b |
A |
G |
18: 6,224,047 (GRCm39) |
V247A |
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,589,612 (GRCm39) |
V91A |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,356,894 (GRCm39) |
S17G |
probably benign |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mecom |
T |
C |
3: 30,034,639 (GRCm39) |
I346V |
probably benign |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,704,471 (GRCm39) |
T662M |
probably benign |
Het |
| Or10g3b |
T |
A |
14: 52,586,768 (GRCm39) |
H245L |
probably damaging |
Het |
| Or2y1b |
C |
T |
11: 49,209,155 (GRCm39) |
P261S |
possibly damaging |
Het |
| Or4c117 |
T |
A |
2: 88,956,024 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,411 (GRCm39) |
F31L |
probably benign |
Het |
| Or5ac19 |
A |
T |
16: 59,089,263 (GRCm39) |
F256I |
probably benign |
Het |
| Or8c18 |
C |
T |
9: 38,203,343 (GRCm39) |
T34I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 31,020,007 (GRCm39) |
T19I |
possibly damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,007,282 (GRCm39) |
Q472L |
probably benign |
Het |
| Plcg2 |
C |
T |
8: 118,342,002 (GRCm39) |
T1121I |
|
Het |
| Plin2 |
T |
C |
4: 86,580,324 (GRCm39) |
T146A |
probably benign |
Het |
| Pum1 |
T |
G |
4: 130,474,393 (GRCm39) |
S488A |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,539,002 (GRCm39) |
|
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Scarf1 |
A |
T |
11: 75,406,069 (GRCm39) |
T118S |
possibly damaging |
Het |
| Sdcbp2 |
G |
A |
2: 151,429,113 (GRCm39) |
V171M |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,361,571 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,673,787 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
A |
G |
10: 57,683,977 (GRCm39) |
Y245C |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,222,462 (GRCm39) |
I201V |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,324,204 (GRCm39) |
L25P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,859 (GRCm39) |
H210R |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,446 (GRCm39) |
Y457N |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Tpp1 |
T |
A |
7: 105,398,156 (GRCm39) |
I336F |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,424,896 (GRCm39) |
V1574I |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,400,029 (GRCm39) |
K1277E |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,905,181 (GRCm39) |
D219E |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,745,904 (GRCm39) |
A43E |
probably damaging |
Het |
| Zfp970 |
G |
A |
2: 177,167,010 (GRCm39) |
A195T |
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 |
|
|
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 |
|
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'- GGATGCGGTTCAGGAACTTG -3'
(R):5'- CTACAATCATGGGCCAGACG -3'
Sequencing Primer
(F):5'- AACTTGGTGATGGAGCAGTC -3'
(R):5'- TCATGGGCCAGACGGACAAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation