Incidental Mutation 'R5751:Orc5'
| ID |
462720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orc5
|
| Ensembl Gene |
ENSMUSG00000029012 |
| Gene Name |
origin recognition complex, subunit 5 |
| Synonyms |
mouse origin recognition complex 5, Orc5l, MmORC5 |
| MMRRC Submission |
043201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R5751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
22691478-22755358 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 22704969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030872]
|
| AlphaFold |
Q9WUV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030872
|
| SMART Domains |
Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_16
|
7 |
155 |
2.4e-15 |
PFAM |
|
Pfam:AAA_22
|
28 |
160 |
2.9e-9 |
PFAM |
|
Pfam:ORC5_C
|
177 |
431 |
5.1e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135906
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
| Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
| Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
| Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
| Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
| Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
| Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Orc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Orc5
|
APN |
5 |
22,728,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00488:Orc5
|
APN |
5 |
22,721,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01915:Orc5
|
APN |
5 |
22,727,381 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02385:Orc5
|
APN |
5 |
22,731,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Orc5
|
APN |
5 |
22,734,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03128:Orc5
|
APN |
5 |
22,721,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0372:Orc5
|
UTSW |
5 |
22,738,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0446:Orc5
|
UTSW |
5 |
22,751,455 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2060:Orc5
|
UTSW |
5 |
22,721,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2144:Orc5
|
UTSW |
5 |
22,752,925 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2375:Orc5
|
UTSW |
5 |
22,751,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Orc5
|
UTSW |
5 |
22,742,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4620:Orc5
|
UTSW |
5 |
22,734,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4626:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4627:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4629:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4664:Orc5
|
UTSW |
5 |
22,751,520 (GRCm39) |
missense |
probably benign |
|
|
R5758:Orc5
|
UTSW |
5 |
22,734,256 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7013:Orc5
|
UTSW |
5 |
22,738,787 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7326:Orc5
|
UTSW |
5 |
22,728,582 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7579:Orc5
|
UTSW |
5 |
22,755,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7794:Orc5
|
UTSW |
5 |
22,738,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9186:Orc5
|
UTSW |
5 |
22,752,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAACACACTAGCTGCGACTTG -3'
(R):5'- GGGTGTACAGAGTTTACAATACTTG -3'
Sequencing Primer
(F):5'- ACACTAGCTGCGACTTGTAACTTTAC -3'
(R):5'- CCCTAGTGACTCTACAGCT -3'
|
| Posted On |
2017-03-01 |
Incidental Mutation