Incidental Mutation 'R4713:Mcm3'
| ID |
353340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm3
|
| Ensembl Gene |
ENSMUSG00000041859 |
| Gene Name |
minichromosome maintenance complex component 3 |
| Synonyms |
p1.m, Mcmd, P1 |
| MMRRC Submission |
041601-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4713 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
20873192-20890536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20873801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 773
(T773I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053266]
|
| AlphaFold |
P25206 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053266
AA Change: T773I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: T773I
| Domain | Start | End | E-Value | Type |
|---|
|
MCM
|
109 |
654 |
N/A |
SMART |
|
AAA
|
337 |
490 |
1.92e-4 |
SMART |
|
coiled coil region
|
655 |
693 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191061
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null or hypomorph alleles exhibit prenatal lethality. Fetal mice homozygous for a hypomorphic allele display anemia and replicative stress during fetal erythropoiesis. Mice heterozygous for null or hypomorph alleles display increased incidence of lymphomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,586,613 (GRCm39) |
T360K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,449 (GRCm39) |
K356E |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,723,113 (GRCm39) |
V123E |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 85,276,143 (GRCm39) |
F532V |
probably damaging |
Het |
| Cct8 |
C |
A |
16: 87,284,576 (GRCm39) |
E204* |
probably null |
Het |
| Cd163 |
T |
A |
6: 124,294,577 (GRCm39) |
|
probably null |
Het |
| Cep152 |
C |
A |
2: 125,429,868 (GRCm39) |
A685S |
possibly damaging |
Het |
| Chdh |
A |
G |
14: 29,758,798 (GRCm39) |
D581G |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 47,058,391 (GRCm39) |
Y77* |
probably null |
Het |
| Col5a3 |
T |
C |
9: 20,704,870 (GRCm39) |
E762G |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,247 (GRCm39) |
T115A |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,555,781 (GRCm39) |
A412E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,367,514 (GRCm39) |
N1789S |
probably damaging |
Het |
| Dzank1 |
C |
T |
2: 144,333,724 (GRCm39) |
E370K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 104,837,184 (GRCm39) |
|
probably null |
Het |
| Gimap8 |
A |
T |
6: 48,635,920 (GRCm39) |
M562L |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,507,553 (GRCm39) |
|
probably benign |
Het |
| Gsr |
T |
G |
8: 34,170,347 (GRCm39) |
|
probably null |
Het |
| Gstcd |
A |
G |
3: 132,688,860 (GRCm39) |
V630A |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,128,043 (GRCm39) |
I116T |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,989,000 (GRCm39) |
E1817G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,265,449 (GRCm39) |
T135P |
probably damaging |
Het |
| Ism2 |
A |
G |
12: 87,331,801 (GRCm39) |
|
silent |
Het |
| Itga11 |
A |
G |
9: 62,673,070 (GRCm39) |
D784G |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,298,456 (GRCm39) |
E10G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,899,618 (GRCm39) |
K440* |
probably null |
Het |
| Lonp2 |
T |
C |
8: 87,439,943 (GRCm39) |
S648P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,267,175 (GRCm39) |
S1622P |
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,318,310 (GRCm39) |
A2047D |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,297,198 (GRCm39) |
V2612A |
probably benign |
Het |
| Mnx1 |
C |
A |
5: 29,683,129 (GRCm39) |
G49W |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,402,816 (GRCm39) |
Y673* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,756 (GRCm39) |
H1172R |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,466,080 (GRCm39) |
K363R |
probably null |
Het |
| Ncoa4 |
T |
A |
14: 31,898,598 (GRCm39) |
C473S |
probably benign |
Het |
| Nefh |
T |
C |
11: 4,889,656 (GRCm39) |
T988A |
unknown |
Het |
| Nwd2 |
T |
A |
5: 63,961,803 (GRCm39) |
D462E |
probably benign |
Het |
| Or2av9 |
T |
C |
11: 58,380,913 (GRCm39) |
T223A |
probably benign |
Het |
| Pira13 |
G |
T |
7: 3,825,680 (GRCm39) |
Y396* |
probably null |
Het |
| Plec |
T |
C |
15: 76,065,267 (GRCm39) |
E1466G |
unknown |
Het |
| Prl3d2 |
G |
T |
13: 27,306,379 (GRCm39) |
M35I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,357,461 (GRCm39) |
I202F |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,116,428 (GRCm39) |
D78E |
probably benign |
Het |
| Rsph3b |
T |
C |
17: 7,172,528 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,438,717 (GRCm39) |
M1717I |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,382,363 (GRCm39) |
H728L |
possibly damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,507,079 (GRCm39) |
A345S |
possibly damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,247,097 (GRCm39) |
V261A |
possibly damaging |
Het |
| Slc49a3 |
T |
C |
5: 108,589,945 (GRCm39) |
T486A |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,519,513 (GRCm39) |
D66G |
probably damaging |
Het |
| Sult2a8 |
A |
T |
7: 14,159,402 (GRCm39) |
N72K |
probably benign |
Het |
| Tbx10 |
T |
C |
19: 4,046,921 (GRCm39) |
L108P |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,427,691 (GRCm39) |
S48P |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,696,596 (GRCm39) |
L95P |
probably damaging |
Het |
| Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,866,799 (GRCm39) |
D543E |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,043,751 (GRCm39) |
R49S |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,261,189 (GRCm39) |
S110C |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,597 (GRCm39) |
N89I |
probably damaging |
Het |
|
| Other mutations in Mcm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Mcm3
|
APN |
1 |
20,875,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01061:Mcm3
|
APN |
1 |
20,884,720 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01488:Mcm3
|
APN |
1 |
20,883,280 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01609:Mcm3
|
APN |
1 |
20,884,904 (GRCm39) |
splice site |
probably benign |
|
|
IGL02483:Mcm3
|
APN |
1 |
20,873,796 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02869:Mcm3
|
APN |
1 |
20,879,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0197:Mcm3
|
UTSW |
1 |
20,880,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Mcm3
|
UTSW |
1 |
20,875,556 (GRCm39) |
missense |
probably benign |
|
|
R0467:Mcm3
|
UTSW |
1 |
20,875,071 (GRCm39) |
missense |
probably benign |
|
|
R0669:Mcm3
|
UTSW |
1 |
20,875,153 (GRCm39) |
splice site |
probably null |
|
|
R1251:Mcm3
|
UTSW |
1 |
20,882,896 (GRCm39) |
nonsense |
probably null |
|
|
R1599:Mcm3
|
UTSW |
1 |
20,890,422 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1764:Mcm3
|
UTSW |
1 |
20,876,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2015:Mcm3
|
UTSW |
1 |
20,873,804 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2140:Mcm3
|
UTSW |
1 |
20,883,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3033:Mcm3
|
UTSW |
1 |
20,878,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Mcm3
|
UTSW |
1 |
20,882,217 (GRCm39) |
nonsense |
probably null |
|
|
R4513:Mcm3
|
UTSW |
1 |
20,880,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4563:Mcm3
|
UTSW |
1 |
20,879,869 (GRCm39) |
missense |
probably benign |
|
|
R4801:Mcm3
|
UTSW |
1 |
20,880,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4802:Mcm3
|
UTSW |
1 |
20,880,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4896:Mcm3
|
UTSW |
1 |
20,890,480 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5035:Mcm3
|
UTSW |
1 |
20,873,642 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5461:Mcm3
|
UTSW |
1 |
20,884,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5486:Mcm3
|
UTSW |
1 |
20,885,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Mcm3
|
UTSW |
1 |
20,873,768 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5759:Mcm3
|
UTSW |
1 |
20,878,972 (GRCm39) |
frame shift |
probably null |
|
|
R5760:Mcm3
|
UTSW |
1 |
20,878,972 (GRCm39) |
frame shift |
probably null |
|
|
R6505:Mcm3
|
UTSW |
1 |
20,873,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Mcm3
|
UTSW |
1 |
20,880,320 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6834:Mcm3
|
UTSW |
1 |
20,880,320 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7179:Mcm3
|
UTSW |
1 |
20,885,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7514:Mcm3
|
UTSW |
1 |
20,876,120 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7673:Mcm3
|
UTSW |
1 |
20,882,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Mcm3
|
UTSW |
1 |
20,876,997 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7718:Mcm3
|
UTSW |
1 |
20,887,498 (GRCm39) |
nonsense |
probably null |
|
|
R8411:Mcm3
|
UTSW |
1 |
20,886,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8412:Mcm3
|
UTSW |
1 |
20,886,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8441:Mcm3
|
UTSW |
1 |
20,884,690 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9265:Mcm3
|
UTSW |
1 |
20,879,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9325:Mcm3
|
UTSW |
1 |
20,875,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0062:Mcm3
|
UTSW |
1 |
20,890,361 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1176:Mcm3
|
UTSW |
1 |
20,890,405 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGATCGTCTCACCATCAG -3'
(R):5'- AGGCTTGTCTTAGCTGCAGG -3'
Sequencing Primer
(F):5'- GATCGTCTCACCATCAGCTTCC -3'
(R):5'- CTGCCATTTTGTTGGTTTAAGACAAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation