Incidental Mutation 'R2398:Orc1'
| ID |
248589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orc1
|
| Ensembl Gene |
ENSMUSG00000028587 |
| Gene Name |
origin recognition complex, subunit 1 |
| Synonyms |
MmORC1, Orc1l |
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108436651-108472030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108459166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 445
(T445I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102744]
|
| AlphaFold |
Q9Z1N2 |
| PDB Structure |
Structure of free mouse ORC1 BAH domain [X-RAY DIFFRACTION]
Structure of mouse ORC1 BAH domain bound to H4K20me2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102744
AA Change: T445I
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587
AA Change: T445I
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
44 |
170 |
1.88e-31 |
SMART |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
AAA
|
505 |
656 |
1e-7 |
SMART |
|
Cdc6_C
|
757 |
837 |
5.45e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129931
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,339,123 (GRCm39) |
A392T |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,821,695 (GRCm39) |
T123I |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,228 (GRCm39) |
I90F |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Mocs1 |
T |
C |
17: 49,759,862 (GRCm39) |
I381T |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,129 (GRCm39) |
I443V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zic2 |
G |
T |
14: 122,716,329 (GRCm39) |
E422* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Orc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Orc1
|
APN |
4 |
108,452,522 (GRCm39) |
splice site |
probably benign |
|
|
IGL00709:Orc1
|
APN |
4 |
108,447,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01124:Orc1
|
APN |
4 |
108,445,984 (GRCm39) |
splice site |
probably benign |
|
|
IGL01514:Orc1
|
APN |
4 |
108,459,249 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01677:Orc1
|
APN |
4 |
108,461,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01782:Orc1
|
APN |
4 |
108,463,465 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01886:Orc1
|
APN |
4 |
108,461,154 (GRCm39) |
splice site |
probably null |
|
|
IGL01912:Orc1
|
APN |
4 |
108,447,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Orc1
|
APN |
4 |
108,445,926 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02155:Orc1
|
APN |
4 |
108,447,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02311:Orc1
|
APN |
4 |
108,457,171 (GRCm39) |
missense |
probably benign |
|
|
IGL02616:Orc1
|
APN |
4 |
108,452,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0012:Orc1
|
UTSW |
4 |
108,452,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0195:Orc1
|
UTSW |
4 |
108,471,505 (GRCm39) |
nonsense |
probably null |
|
|
R0239:Orc1
|
UTSW |
4 |
108,452,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0239:Orc1
|
UTSW |
4 |
108,452,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0611:Orc1
|
UTSW |
4 |
108,459,229 (GRCm39) |
missense |
probably benign |
|
|
R1351:Orc1
|
UTSW |
4 |
108,452,564 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1966:Orc1
|
UTSW |
4 |
108,469,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Orc1
|
UTSW |
4 |
108,447,897 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3110:Orc1
|
UTSW |
4 |
108,461,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3112:Orc1
|
UTSW |
4 |
108,461,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3712:Orc1
|
UTSW |
4 |
108,461,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Orc1
|
UTSW |
4 |
108,471,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Orc1
|
UTSW |
4 |
108,462,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Orc1
|
UTSW |
4 |
108,463,471 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4320:Orc1
|
UTSW |
4 |
108,445,973 (GRCm39) |
missense |
probably benign |
|
|
R4321:Orc1
|
UTSW |
4 |
108,445,973 (GRCm39) |
missense |
probably benign |
|
|
R4322:Orc1
|
UTSW |
4 |
108,445,973 (GRCm39) |
missense |
probably benign |
|
|
R4348:Orc1
|
UTSW |
4 |
108,450,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4562:Orc1
|
UTSW |
4 |
108,459,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4772:Orc1
|
UTSW |
4 |
108,436,765 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4914:Orc1
|
UTSW |
4 |
108,461,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Orc1
|
UTSW |
4 |
108,471,670 (GRCm39) |
makesense |
probably null |
|
|
R5219:Orc1
|
UTSW |
4 |
108,447,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5428:Orc1
|
UTSW |
4 |
108,457,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Orc1
|
UTSW |
4 |
108,450,636 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5693:Orc1
|
UTSW |
4 |
108,470,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5936:Orc1
|
UTSW |
4 |
108,459,180 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5960:Orc1
|
UTSW |
4 |
108,463,495 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6294:Orc1
|
UTSW |
4 |
108,447,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6504:Orc1
|
UTSW |
4 |
108,447,914 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6533:Orc1
|
UTSW |
4 |
108,454,644 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6775:Orc1
|
UTSW |
4 |
108,460,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7123:Orc1
|
UTSW |
4 |
108,445,884 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
|
R7156:Orc1
|
UTSW |
4 |
108,452,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7327:Orc1
|
UTSW |
4 |
108,445,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7552:Orc1
|
UTSW |
4 |
108,445,951 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7842:Orc1
|
UTSW |
4 |
108,462,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7899:Orc1
|
UTSW |
4 |
108,460,568 (GRCm39) |
splice site |
probably null |
|
|
R8033:Orc1
|
UTSW |
4 |
108,462,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Orc1
|
UTSW |
4 |
108,469,357 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9762:Orc1
|
UTSW |
4 |
108,447,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGGGATCATGTTTGGACTG -3'
(R):5'- ACTCTTTCCTCATGAGAAAGCTTTC -3'
Sequencing Primer
(F):5'- ACTGTGAACATGTTTGATGTGAGC -3'
(R):5'- GTGACATAATAGTGCTGGCTCAACC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation