Incidental Mutation 'R5850:Os9'
| ID |
454632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Os9
|
| Ensembl Gene |
ENSMUSG00000040462 |
| Gene Name |
amplified in osteosarcoma |
| Synonyms |
4632413K17Rik |
| MMRRC Submission |
043226-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5850 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
126931519-126957000 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
TTCCTCCTCCTCCTCCTCCTC to TTCCTCCTCCTCCTCCTC
at 126934348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080975]
[ENSMUST00000164259]
[ENSMUST00000218798]
|
| AlphaFold |
Q8K2C7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080975
|
| SMART Domains |
Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
108 |
181 |
2.3e-19 |
PFAM |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164259
|
| SMART Domains |
Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
108 |
181 |
8.6e-19 |
PFAM |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218798
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Abhd14a |
A |
C |
9: 106,317,548 (GRCm39) |
L225R |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,790 (GRCm39) |
S39P |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,451,116 (GRCm39) |
S2637P |
possibly damaging |
Het |
| Apold1 |
T |
C |
6: 134,961,058 (GRCm39) |
F171L |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,049 (GRCm39) |
M967T |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,543,785 (GRCm39) |
|
probably null |
Het |
| Bcl2l15 |
T |
A |
3: 103,743,432 (GRCm39) |
V111D |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,149 (GRCm39) |
M1201K |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,859,747 (GRCm39) |
N965Y |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,577 (GRCm39) |
Y98H |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,460,775 (GRCm39) |
R117* |
probably null |
Het |
| Dlgap1 |
G |
A |
17: 71,094,087 (GRCm39) |
V803M |
probably damaging |
Het |
| Drd3 |
A |
C |
16: 43,638,695 (GRCm39) |
M299L |
probably benign |
Het |
| Ergic2 |
C |
A |
6: 148,084,605 (GRCm39) |
M34I |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,004 (GRCm39) |
D92E |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,086,111 (GRCm39) |
|
probably benign |
Het |
| Ganab |
C |
T |
19: 8,889,071 (GRCm39) |
R591W |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,683,172 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,099 (GRCm39) |
E813G |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,247,675 (GRCm39) |
T1621A |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,554,124 (GRCm39) |
Q139* |
probably null |
Het |
| Oxa1l |
T |
G |
14: 54,605,121 (GRCm39) |
V11G |
possibly damaging |
Het |
| Padi1 |
A |
G |
4: 140,542,141 (GRCm39) |
Y594H |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,903,667 (GRCm39) |
F327I |
probably benign |
Het |
| Prf1 |
G |
T |
10: 61,135,972 (GRCm39) |
A83S |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,981,127 (GRCm39) |
E470G |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc19a2 |
A |
G |
1: 164,091,025 (GRCm39) |
I278V |
probably benign |
Het |
| Smco1 |
A |
T |
16: 32,092,674 (GRCm39) |
N115I |
probably damaging |
Het |
| Smyd3 |
G |
A |
1: 178,871,420 (GRCm39) |
L320F |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,098,900 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,144,749 (GRCm39) |
D1566G |
probably damaging |
Het |
| Tpm2 |
T |
C |
4: 43,523,296 (GRCm39) |
D20G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,281,045 (GRCm39) |
Y241C |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 122,960,417 (GRCm39) |
|
probably null |
Het |
| Wdr45b |
A |
G |
11: 121,221,923 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,745,414 (GRCm39) |
I468V |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Os9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Os9
|
APN |
10 |
126,933,845 (GRCm39) |
missense |
probably benign |
|
|
IGL00978:Os9
|
APN |
10 |
126,956,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01683:Os9
|
APN |
10 |
126,935,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Os9
|
APN |
10 |
126,935,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01997:Os9
|
APN |
10 |
126,955,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02035:Os9
|
APN |
10 |
126,932,160 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02039:Os9
|
APN |
10 |
126,932,160 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02134:Os9
|
APN |
10 |
126,956,861 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02851:Os9
|
APN |
10 |
126,935,262 (GRCm39) |
intron |
probably benign |
|
|
IGL03169:Os9
|
APN |
10 |
126,934,463 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0211:Os9
|
UTSW |
10 |
126,956,905 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0514:Os9
|
UTSW |
10 |
126,955,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Os9
|
UTSW |
10 |
126,956,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Os9
|
UTSW |
10 |
126,932,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Os9
|
UTSW |
10 |
126,934,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Os9
|
UTSW |
10 |
126,955,007 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4600:Os9
|
UTSW |
10 |
126,934,223 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4982:Os9
|
UTSW |
10 |
126,956,920 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6148:Os9
|
UTSW |
10 |
126,935,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6257:Os9
|
UTSW |
10 |
126,955,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6650:Os9
|
UTSW |
10 |
126,935,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6731:Os9
|
UTSW |
10 |
126,934,412 (GRCm39) |
missense |
probably benign |
|
|
R7090:Os9
|
UTSW |
10 |
126,935,547 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8909:Os9
|
UTSW |
10 |
126,956,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9149:Os9
|
UTSW |
10 |
126,933,918 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTAATAACTCTCCCGTCGGGTG -3'
(R):5'- CGGACTCCTTCAAACTGCATC -3'
Sequencing Primer
(F):5'- TGGATGATGTTCTCCAGC -3'
(R):5'- GGACTCCTTCAAACTGCATCTTCTAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation