Incidental Mutation 'R2370:Orc4'
| ID |
247486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orc4
|
| Ensembl Gene |
ENSMUSG00000026761 |
| Gene Name |
origin recognition complex, subunit 4 |
| Synonyms |
mMmORC4, Orc4, Orc4l, Orc4P |
| MMRRC Submission |
040350-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R2370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
48902824-48950277 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48933099 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028098]
[ENSMUST00000090976]
[ENSMUST00000123271]
[ENSMUST00000142851]
[ENSMUST00000149679]
|
| AlphaFold |
O88708 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028098
AA Change: V120A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028098
Gene: ENSMUSG00000026761
AA Change: V120A
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
57 |
199 |
2.75e-5 |
SMART |
|
Pfam:ORC4_C
|
225 |
413 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090976
AA Change: V120A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000088497
Gene: ENSMUSG00000026761
AA Change: V120A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_16
|
34 |
138 |
3.3e-14 |
PFAM |
|
Pfam:KAP_NTPase
|
38 |
123 |
2.9e-7 |
PFAM |
|
Pfam:Arch_ATPase
|
43 |
130 |
4.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142851
AA Change: V120A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119274
Gene: ENSMUSG00000026761
AA Change: V120A
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
57 |
199 |
2.75e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149679
|
| SMART Domains |
Protein: ENSMUSP00000121114
Gene: ENSMUSG00000026761
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jbka_
|
43 |
73 |
2e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154784
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
| 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. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,580,386 |
A115T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,256,185 |
T162A |
possibly damaging |
Het |
| Adamts9 |
T |
A |
6: 92,860,203 |
D578V |
probably damaging |
Het |
| Atp6v1a |
T |
C |
16: 44,107,040 |
T295A |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,762,947 |
S449P |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,263,117 |
T1072A |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,214,300 |
E78* |
probably null |
Het |
| Cul7 |
A |
G |
17: 46,661,641 |
Y1250C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,952,355 |
D1120G |
probably damaging |
Het |
| Gfod1 |
A |
G |
13: 43,201,145 |
M118T |
probably benign |
Het |
| Ints5 |
A |
G |
19: 8,896,779 |
T701A |
probably benign |
Het |
| Map4k2 |
G |
T |
19: 6,341,928 |
E91* |
probably null |
Het |
| Mast4 |
T |
A |
13: 102,774,187 |
E457D |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 94,733,148 |
D404G |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,464,533 |
F58L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,255,628 |
K1476E |
probably damaging |
Het |
| Myl7 |
T |
C |
11: 5,896,684 |
E175G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,777,770 |
E152G |
probably benign |
Het |
| Ncan |
G |
A |
8: 70,112,813 |
T187I |
probably benign |
Het |
| Nfatc3 |
A |
G |
8: 106,108,455 |
Y803C |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,190,846 |
Y659C |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,227,046 |
T74A |
probably benign |
Het |
| Ntrk2 |
A |
T |
13: 59,054,434 |
M619L |
probably benign |
Het |
| Olfr1143 |
A |
T |
2: 87,802,815 |
N142I |
probably benign |
Het |
| Polq |
T |
A |
16: 37,073,939 |
Y2037N |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,803,844 |
C160R |
probably damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,830,100 |
S721G |
possibly damaging |
Het |
| Skap2 |
C |
T |
6: 51,921,330 |
R140Q |
probably damaging |
Het |
| Srprb |
C |
T |
9: 103,197,556 |
R838H |
probably damaging |
Het |
|
| Other mutations in Orc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Orc4
|
APN |
2 |
48910269 |
missense |
probably benign |
|
|
IGL01523:Orc4
|
APN |
2 |
48917224 |
missense |
probably benign |
0.00 |
|
IGL02546:Orc4
|
APN |
2 |
48917284 |
missense |
probably null |
0.02 |
|
IGL02592:Orc4
|
APN |
2 |
48933078 |
critical splice donor site |
probably null |
|
|
R0277:Orc4
|
UTSW |
2 |
48937467 |
missense |
possibly damaging |
0.78 |
|
R0323:Orc4
|
UTSW |
2 |
48937467 |
missense |
possibly damaging |
0.78 |
|
R0554:Orc4
|
UTSW |
2 |
48905421 |
missense |
probably benign |
0.01 |
|
R0573:Orc4
|
UTSW |
2 |
48917273 |
missense |
probably benign |
0.05 |
|
R0788:Orc4
|
UTSW |
2 |
48937467 |
missense |
possibly damaging |
0.78 |
|
R0893:Orc4
|
UTSW |
2 |
48932610 |
unclassified |
probably benign |
|
|
R1112:Orc4
|
UTSW |
2 |
48933572 |
missense |
probably damaging |
0.97 |
|
R1466:Orc4
|
UTSW |
2 |
48909494 |
missense |
possibly damaging |
0.91 |
|
R1466:Orc4
|
UTSW |
2 |
48909494 |
missense |
possibly damaging |
0.91 |
|
R1584:Orc4
|
UTSW |
2 |
48909494 |
missense |
possibly damaging |
0.91 |
|
R1868:Orc4
|
UTSW |
2 |
48910293 |
missense |
probably benign |
0.07 |
|
R2342:Orc4
|
UTSW |
2 |
48927140 |
missense |
probably damaging |
0.99 |
|
R3085:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R3086:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R3122:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R3404:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R3551:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4199:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4515:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4518:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4519:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4521:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4523:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4529:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4532:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4533:Orc4
|
UTSW |
2 |
48937489 |
missense |
probably benign |
0.01 |
|
R4652:Orc4
|
UTSW |
2 |
48936750 |
unclassified |
probably benign |
|
|
R4845:Orc4
|
UTSW |
2 |
48909466 |
missense |
probably benign |
0.07 |
|
R5893:Orc4
|
UTSW |
2 |
48905547 |
nonsense |
probably null |
|
|
R6708:Orc4
|
UTSW |
2 |
48937493 |
missense |
probably benign |
0.00 |
|
R6972:Orc4
|
UTSW |
2 |
48927184 |
missense |
probably benign |
0.03 |
|
R7572:Orc4
|
UTSW |
2 |
48910236 |
missense |
probably benign |
0.01 |
|
R7938:Orc4
|
UTSW |
2 |
48910191 |
missense |
possibly damaging |
0.79 |
|
R9267:Orc4
|
UTSW |
2 |
48937522 |
nonsense |
probably null |
|
|
R9463:Orc4
|
UTSW |
2 |
48936771 |
critical splice donor site |
probably null |
|
|
R9472:Orc4
|
UTSW |
2 |
48905551 |
missense |
probably benign |
0.03 |
|
R9480:Orc4
|
UTSW |
2 |
48905551 |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACGCTACTTCATAAGTCTTG -3'
(R):5'- TCCAAGGAATGCTTCGATTACC -3'
Sequencing Primer
(F):5'- GCTTGATGACTAAATATGCCA -3'
(R):5'- CTGTGTCAAATACTTGCTTCTT -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation