Incidental Mutation 'R3619:Orc6'
| ID |
268563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orc6
|
| Ensembl Gene |
ENSMUSG00000031697 |
| Gene Name |
origin recognition complex, subunit 6 |
| Synonyms |
6720420I10Rik, Orc6l |
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
86026261-86034907 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 86026623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034131]
[ENSMUST00000034132]
[ENSMUST00000170141]
[ENSMUST00000210146]
[ENSMUST00000211597]
[ENSMUST00000211396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034131
|
| SMART Domains |
Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps35
|
15 |
753 |
6.8e-303 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000034132
|
| SMART Domains |
Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ORC6
|
6 |
108 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170141
|
| SMART Domains |
Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3M03|C
|
18 |
111 |
2e-51 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211154
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211597
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211479
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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 subunit 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. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc82 |
T |
A |
9: 13,251,931 (GRCm39) |
D74E |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,234 (GRCm39) |
S118G |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,934,047 (GRCm39) |
L178P |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,438 (GRCm39) |
N257D |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,562,758 (GRCm39) |
A508S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Micu1 |
T |
C |
10: 59,604,080 (GRCm39) |
|
probably null |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
|
| Other mutations in Orc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01893:Orc6
|
APN |
8 |
86,034,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02531:Orc6
|
APN |
8 |
86,029,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02713:Orc6
|
APN |
8 |
86,034,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02997:Orc6
|
APN |
8 |
86,032,837 (GRCm39) |
unclassified |
probably benign |
|
|
R0685:Orc6
|
UTSW |
8 |
86,027,783 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1667:Orc6
|
UTSW |
8 |
86,031,914 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3810:Orc6
|
UTSW |
8 |
86,026,613 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4707:Orc6
|
UTSW |
8 |
86,029,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Orc6
|
UTSW |
8 |
86,029,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Orc6
|
UTSW |
8 |
86,029,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7062:Orc6
|
UTSW |
8 |
86,029,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Orc6
|
UTSW |
8 |
86,029,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7803:Orc6
|
UTSW |
8 |
86,030,037 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7880:Orc6
|
UTSW |
8 |
86,031,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9512:Orc6
|
UTSW |
8 |
86,029,522 (GRCm39) |
missense |
|
|
|
R9521:Orc6
|
UTSW |
8 |
86,026,615 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9620:Orc6
|
UTSW |
8 |
86,026,430 (GRCm39) |
start gained |
probably benign |
|
|
Y5406:Orc6
|
UTSW |
8 |
86,034,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGATTGGTGTGTGGAAC -3'
(R):5'- CCAACAGAGCTAGAGTGCTTC -3'
Sequencing Primer
(F):5'- TGTGGAACGGTCTCAACCTCTG -3'
(R):5'- GTGCTTCAAGGACGACTATATACG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation