Incidental Mutation 'IGL01997:Os9'
| ID |
182096 |
| 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 # |
IGL01997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126931519-126957000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126955312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 147
(H147L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080975]
[ENSMUST00000164259]
[ENSMUST00000218798]
|
| AlphaFold |
Q8K2C7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080975
AA Change: H147L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
AA Change: H147L
| 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: H147L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
AA Change: H147L
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
| Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,193,206 (GRCm39) |
E246G |
probably damaging |
Het |
| Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
| Gnat3 |
G |
T |
5: 18,204,721 (GRCm39) |
E125* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
| Krt72 |
A |
G |
15: 101,693,315 (GRCm39) |
S200P |
probably damaging |
Het |
| Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,466 (GRCm39) |
P202L |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
| Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
| Nsun2 |
C |
T |
13: 69,771,365 (GRCm39) |
P290L |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
| Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
| Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
| Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
| S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,782,288 (GRCm39) |
K736R |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,292 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
probably benign |
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 |
|
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 |
2014-05-07 |
Incidental Mutation