Incidental Mutation 'IGL00577:Os9'
| ID |
6084 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Os9
|
| Ensembl Gene |
ENSMUSG00000040462 |
| Gene Name |
amplified in osteosarcoma |
| Synonyms |
4632413K17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00577
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126931519-126957000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126933845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 524
(R524K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039259]
[ENSMUST00000080975]
[ENSMUST00000164259]
[ENSMUST00000217941]
[ENSMUST00000218798]
|
| AlphaFold |
Q8K2C7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039259
|
| SMART Domains |
Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
376 |
N/A |
INTRINSIC |
|
Pfam:Ras
|
402 |
562 |
3.6e-16 |
PFAM |
|
low complexity region
|
575 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
609 |
N/A |
INTRINSIC |
|
PH
|
671 |
906 |
4.35e-14 |
SMART |
|
ArfGap
|
925 |
1045 |
8.8e-62 |
SMART |
|
low complexity region
|
1052 |
1071 |
N/A |
INTRINSIC |
|
ANK
|
1084 |
1113 |
1.15e0 |
SMART |
|
ANK
|
1117 |
1145 |
3.69e2 |
SMART |
|
low complexity region
|
1148 |
1175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080975
AA Change: R524K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: R524K
| 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
AA Change: R524K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: R524K
| 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: ENSMUST00000217941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218798
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
T |
A |
14: 44,239,458 (GRCm39) |
Y90F |
probably benign |
Het |
| Arhgef6 |
T |
A |
X: 56,290,992 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,374,772 (GRCm39) |
E115G |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,801,186 (GRCm39) |
V55E |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,375 (GRCm39) |
R376* |
probably null |
Het |
| Dop1a |
A |
T |
9: 86,402,999 (GRCm39) |
I1398F |
probably damaging |
Het |
| Eif2s1 |
T |
G |
12: 78,913,420 (GRCm39) |
N40K |
possibly damaging |
Het |
| Epb41 |
T |
A |
4: 131,702,042 (GRCm39) |
H531L |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,696,049 (GRCm39) |
W523R |
probably damaging |
Het |
| Gpatch8 |
T |
C |
11: 102,369,704 (GRCm39) |
D1278G |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,372,246 (GRCm39) |
A795T |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,903,884 (GRCm39) |
|
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,822 (GRCm39) |
|
probably benign |
Het |
| Prnp |
A |
G |
2: 131,779,031 (GRCm39) |
R228G |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Prss1 |
T |
C |
6: 41,439,645 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,245,888 (GRCm39) |
D678G |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,486,624 (GRCm39) |
V430L |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,565 (GRCm39) |
S395P |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,177,599 (GRCm39) |
I55T |
probably damaging |
Het |
| Tmc3 |
A |
C |
7: 83,252,682 (GRCm39) |
E361A |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,272,312 (GRCm39) |
S922T |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,437 (GRCm39) |
Y125* |
probably null |
Het |
|
| Other mutations in Os9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5850:Os9
|
UTSW |
10 |
126,934,348 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation