Incidental Mutation 'IGL00978:Os9'
| ID |
28426 |
| 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 # |
IGL00978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126931519-126957000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126956378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 66
(Y66N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080975]
[ENSMUST00000164259]
[ENSMUST00000218798]
|
| AlphaFold |
Q8K2C7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080975
AA Change: Y67N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: Y67N
| 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 damaging
Transcript: ENSMUST00000164259
AA Change: Y67N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: Y67N
| 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 damaging
Transcript: ENSMUST00000218798
AA Change: Y66N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
| Cep97 |
C |
T |
16: 55,745,323 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
| Gmeb2 |
A |
T |
2: 180,900,836 (GRCm39) |
V187E |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
| Klhl32 |
T |
A |
4: 24,682,245 (GRCm39) |
D146V |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,774 (GRCm39) |
I355V |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,188 (GRCm39) |
S73R |
possibly damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
| Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
| Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
| Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
| Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,204,855 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zfp692 |
A |
G |
11: 58,200,824 (GRCm39) |
H235R |
possibly 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 |
|
|
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 |
2013-04-17 |
Incidental Mutation