Incidental Mutation 'R6650:Os9'
| ID |
527747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Os9
|
| Ensembl Gene |
ENSMUSG00000040462 |
| Gene Name |
amplified in osteosarcoma |
| Synonyms |
4632413K17Rik |
| MMRRC Submission |
044771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6650 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
126931519-126957000 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 126935953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080975]
[ENSMUST00000164259]
[ENSMUST00000218798]
|
| AlphaFold |
Q8K2C7 |
| Predicted Effect |
probably null
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 null
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
|
| Meta Mutation Damage Score |
0.9575 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
| Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
| Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
| Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
| Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
| Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
| Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
| Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
| Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
| Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
| Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
| Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
| Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
| Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
| Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
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 |
|
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 |
|
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'- CAACTGTCGAATCGGACAGG -3'
(R):5'- ACCGAGTAGATGAACCCGTCTC -3'
Sequencing Primer
(F):5'- GTGGTAGAGGCCAGCATC -3'
(R):5'- GTAGATGAACCCGTCTCCTGCTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation