Incidental Mutation 'R6314:Orc3'
| ID |
509926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orc3
|
| Ensembl Gene |
ENSMUSG00000040044 |
| Gene Name |
origin recognition complex, subunit 3 |
| Synonyms |
Orc3l |
| MMRRC Submission |
044471-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
34570796-34614944 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34579797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 494
(G494C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048706]
[ENSMUST00000108142]
|
| AlphaFold |
Q9JK30 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048706
AA Change: G494C
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044
AA Change: G494C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ORC3_N
|
25 |
350 |
3e-130 |
PFAM |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108142
AA Change: G494C
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044
AA Change: G494C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ORC3_N
|
24 |
350 |
7.7e-136 |
PFAM |
|
low complexity region
|
652 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156987
|
| Meta Mutation Damage Score |
0.2129 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
98% (54/55) |
| 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 a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the neural cells exhibit reduced neuronal precursor proliferation and reduced radial glial cell. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
A |
C |
5: 146,441,702 (GRCm39) |
E283A |
possibly damaging |
Het |
| Aadacl2 |
A |
T |
3: 59,924,824 (GRCm39) |
R130S |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,177,365 (GRCm39) |
C581* |
probably null |
Het |
| Adss2 |
T |
A |
1: 177,595,334 (GRCm39) |
Y402F |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,836,155 (GRCm39) |
Q13H |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Armc8 |
A |
G |
9: 99,417,937 (GRCm39) |
S74P |
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,724,013 (GRCm39) |
|
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,679,347 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,204,051 (GRCm39) |
H33Q |
probably damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,895,521 (GRCm39) |
Y58F |
probably benign |
Het |
| Efemp1 |
C |
T |
11: 28,864,603 (GRCm39) |
T219I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,729,366 (GRCm39) |
N436D |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,007,208 (GRCm39) |
V261A |
probably damaging |
Het |
| Erap1 |
A |
T |
13: 74,822,894 (GRCm39) |
K802N |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,332,520 (GRCm39) |
N168S |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,186 (GRCm39) |
|
probably null |
Het |
| Fv1 |
A |
T |
4: 147,954,156 (GRCm39) |
|
probably null |
Het |
| Gdpd4 |
T |
A |
7: 97,623,160 (GRCm39) |
M257K |
probably damaging |
Het |
| Gorab |
T |
C |
1: 163,224,658 (GRCm39) |
S48G |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,775,164 (GRCm39) |
H361L |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,128,223 (GRCm39) |
Y300H |
possibly damaging |
Het |
| Hk3 |
T |
C |
13: 55,161,393 (GRCm39) |
R156G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,578,136 (GRCm39) |
M118L |
probably benign |
Het |
| Lmnb2 |
G |
A |
10: 80,745,804 (GRCm39) |
R92C |
probably damaging |
Het |
| Lsr |
A |
G |
7: 30,658,024 (GRCm39) |
L380P |
probably damaging |
Het |
| Mettl16 |
A |
T |
11: 74,686,832 (GRCm39) |
R204* |
probably null |
Het |
| Or5h18 |
A |
T |
16: 58,847,820 (GRCm39) |
I150K |
probably benign |
Het |
| Or7a37 |
A |
G |
10: 78,806,179 (GRCm39) |
H232R |
probably benign |
Het |
| Or7e173 |
C |
A |
9: 19,938,958 (GRCm39) |
S92I |
probably damaging |
Het |
| Pcare |
T |
G |
17: 72,059,452 (GRCm39) |
Q75P |
probably benign |
Het |
| Pip5k1a |
G |
T |
3: 94,975,432 (GRCm39) |
T346K |
probably damaging |
Het |
| Pitx1 |
A |
T |
13: 55,974,166 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,743,754 (GRCm39) |
V473A |
possibly damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,571,572 (GRCm39) |
L168F |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,121,157 (GRCm39) |
D289G |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,357,482 (GRCm39) |
E195* |
probably null |
Het |
| S100a7l2 |
A |
T |
3: 90,995,683 (GRCm39) |
V73E |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,800,894 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
A |
G |
3: 94,844,576 (GRCm39) |
N78D |
probably damaging |
Het |
| Serpina1d |
T |
A |
12: 103,730,959 (GRCm39) |
T340S |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
T |
C |
16: 17,237,183 (GRCm39) |
M98T |
probably benign |
Het |
| Son |
G |
T |
16: 91,457,298 (GRCm39) |
|
probably benign |
Het |
| Spef1l |
A |
C |
7: 139,556,402 (GRCm39) |
L195R |
possibly damaging |
Het |
| Tgfbi |
A |
T |
13: 56,773,976 (GRCm39) |
T252S |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,554,996 (GRCm39) |
N296S |
possibly damaging |
Het |
| Tmem225 |
C |
G |
9: 40,062,016 (GRCm39) |
T210S |
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,888,592 (GRCm39) |
V778D |
possibly damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,794 (GRCm39) |
R370G |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,625 (GRCm39) |
H442R |
probably benign |
Het |
| Vmn1r20 |
A |
T |
6: 57,409,042 (GRCm39) |
M123L |
probably benign |
Het |
| Zfp622 |
T |
C |
15: 25,987,067 (GRCm39) |
V273A |
probably benign |
Het |
| Zhx1 |
C |
T |
15: 57,917,398 (GRCm39) |
V283I |
probably benign |
Het |
|
| Other mutations in Orc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01636:Orc3
|
APN |
4 |
34,595,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03293:Orc3
|
APN |
4 |
34,595,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02991:Orc3
|
UTSW |
4 |
34,593,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0157:Orc3
|
UTSW |
4 |
34,607,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0708:Orc3
|
UTSW |
4 |
34,597,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Orc3
|
UTSW |
4 |
34,599,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1481:Orc3
|
UTSW |
4 |
34,607,228 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1755:Orc3
|
UTSW |
4 |
34,575,114 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1886:Orc3
|
UTSW |
4 |
34,584,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Orc3
|
UTSW |
4 |
34,611,049 (GRCm39) |
splice site |
probably null |
|
|
R2054:Orc3
|
UTSW |
4 |
34,584,846 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2307:Orc3
|
UTSW |
4 |
34,586,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Orc3
|
UTSW |
4 |
34,571,790 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3002:Orc3
|
UTSW |
4 |
34,571,790 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3153:Orc3
|
UTSW |
4 |
34,575,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4044:Orc3
|
UTSW |
4 |
34,587,055 (GRCm39) |
nonsense |
probably null |
|
|
R4814:Orc3
|
UTSW |
4 |
34,572,450 (GRCm39) |
splice site |
probably benign |
|
|
R4825:Orc3
|
UTSW |
4 |
34,571,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4939:Orc3
|
UTSW |
4 |
34,593,126 (GRCm39) |
nonsense |
probably null |
|
|
R6867:Orc3
|
UTSW |
4 |
34,605,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Orc3
|
UTSW |
4 |
34,572,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7417:Orc3
|
UTSW |
4 |
34,595,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Orc3
|
UTSW |
4 |
34,587,032 (GRCm39) |
nonsense |
probably null |
|
|
R7656:Orc3
|
UTSW |
4 |
34,587,032 (GRCm39) |
nonsense |
probably null |
|
|
R7707:Orc3
|
UTSW |
4 |
34,598,691 (GRCm39) |
nonsense |
probably null |
|
|
R7856:Orc3
|
UTSW |
4 |
34,585,647 (GRCm39) |
missense |
probably benign |
|
|
R7967:Orc3
|
UTSW |
4 |
34,598,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8058:Orc3
|
UTSW |
4 |
34,595,223 (GRCm39) |
nonsense |
probably null |
|
|
R8443:Orc3
|
UTSW |
4 |
34,593,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8670:Orc3
|
UTSW |
4 |
34,572,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Orc3
|
UTSW |
4 |
34,599,778 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8827:Orc3
|
UTSW |
4 |
34,605,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9303:Orc3
|
UTSW |
4 |
34,607,181 (GRCm39) |
nonsense |
probably null |
|
|
R9305:Orc3
|
UTSW |
4 |
34,607,181 (GRCm39) |
nonsense |
probably null |
|
|
R9684:Orc3
|
UTSW |
4 |
34,607,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGCCTTTGCCTGTTTGC -3'
(R):5'- CTTAATTTCTTGTTGGCACCTAGGG -3'
Sequencing Primer
(F):5'- GCACTTGTTAAGATGTTACCTTCAG -3'
(R):5'- TCAGGTTATAAAGTGCCGCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation