Incidental Mutation 'IGL01061:Mcm3'
ID |
50165 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mcm3
|
Ensembl Gene |
ENSMUSG00000041859 |
Gene Name |
minichromosome maintenance complex component 3 |
Synonyms |
p1.m, Mcmd, P1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01061
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
20873192-20890536 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20884720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 261
(I261N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053266]
|
AlphaFold |
P25206 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053266
AA Change: I261N
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000059192 Gene: ENSMUSG00000041859 AA Change: I261N
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
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,619,686 (GRCm39) |
C186* |
probably null |
Het |
Ankmy1 |
A |
T |
1: 92,798,696 (GRCm39) |
|
probably benign |
Het |
B3gnt2 |
T |
A |
11: 22,786,042 (GRCm39) |
E382V |
probably damaging |
Het |
Carmil3 |
T |
G |
14: 55,736,087 (GRCm39) |
S610A |
possibly damaging |
Het |
Cfap70 |
T |
C |
14: 20,497,693 (GRCm39) |
|
probably benign |
Het |
Chek1 |
G |
A |
9: 36,625,815 (GRCm39) |
R277C |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,320,680 (GRCm39) |
I92L |
probably benign |
Het |
Ddx56 |
C |
T |
11: 6,214,671 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
T |
12: 104,672,586 (GRCm39) |
M887K |
probably null |
Het |
Dnajc18 |
A |
G |
18: 35,813,995 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,596,653 (GRCm39) |
V401A |
probably damaging |
Het |
Dock4 |
A |
C |
12: 40,752,968 (GRCm39) |
N434T |
probably benign |
Het |
Dync2i1 |
C |
A |
12: 116,193,324 (GRCm39) |
A543S |
probably benign |
Het |
Ehbp1l1 |
A |
T |
19: 5,767,916 (GRCm39) |
M1129K |
probably benign |
Het |
Fam83a |
A |
T |
15: 57,849,771 (GRCm39) |
Y105F |
possibly damaging |
Het |
Fnbp1 |
C |
A |
2: 30,973,054 (GRCm39) |
D70Y |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,325,698 (GRCm39) |
F414L |
possibly damaging |
Het |
Kndc1 |
A |
T |
7: 139,502,610 (GRCm39) |
E965D |
probably benign |
Het |
Lrrc66 |
T |
C |
5: 73,772,842 (GRCm39) |
K209E |
probably benign |
Het |
Mier3 |
T |
A |
13: 111,850,970 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
C |
7: 141,234,720 (GRCm39) |
E669G |
probably damaging |
Het |
Myh1 |
T |
A |
11: 67,108,688 (GRCm39) |
M1368K |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,378,368 (GRCm39) |
I1653T |
probably damaging |
Het |
Nuak1 |
C |
A |
10: 84,210,998 (GRCm39) |
L363F |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,795 (GRCm39) |
I173T |
possibly damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,589 (GRCm39) |
I270T |
possibly damaging |
Het |
Or9i1 |
T |
C |
19: 13,840,069 (GRCm39) |
V304A |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,365,338 (GRCm39) |
H1153R |
probably damaging |
Het |
Poglut3 |
A |
G |
9: 53,299,887 (GRCm39) |
|
probably benign |
Het |
Ppp6r2 |
A |
T |
15: 89,170,218 (GRCm39) |
|
probably benign |
Het |
Prelid3b |
T |
C |
2: 174,307,614 (GRCm39) |
|
probably null |
Het |
Prrt3 |
T |
C |
6: 113,474,731 (GRCm39) |
K164E |
possibly damaging |
Het |
Rab22a |
T |
A |
2: 173,530,003 (GRCm39) |
D60E |
probably damaging |
Het |
Rab32 |
A |
G |
10: 10,433,618 (GRCm39) |
L72P |
probably damaging |
Het |
Samm50 |
A |
G |
15: 84,086,455 (GRCm39) |
T225A |
probably benign |
Het |
Snx27 |
T |
A |
3: 94,436,287 (GRCm39) |
|
probably benign |
Het |
Taf7 |
G |
A |
18: 37,776,486 (GRCm39) |
T27M |
probably damaging |
Het |
Tgm5 |
A |
T |
2: 120,901,977 (GRCm39) |
C231S |
probably benign |
Het |
Tll1 |
A |
G |
8: 64,491,488 (GRCm39) |
|
probably null |
Het |
Tmem150a |
A |
G |
6: 72,334,101 (GRCm39) |
D61G |
probably damaging |
Het |
Ttll8 |
G |
A |
15: 88,801,453 (GRCm39) |
R412C |
possibly damaging |
Het |
Ubr3 |
T |
A |
2: 69,813,569 (GRCm39) |
D1293E |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,606,566 (GRCm39) |
N1669D |
probably benign |
Het |
Vmn2r28 |
A |
G |
7: 5,491,183 (GRCm39) |
W355R |
probably damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfhx2 |
T |
A |
14: 55,311,339 (GRCm39) |
N452Y |
possibly damaging |
Het |
Zfp180 |
T |
G |
7: 23,804,170 (GRCm39) |
D196E |
possibly 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 |
|
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 |
|
R4713:Mcm3
|
UTSW |
1 |
20,873,801 (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 |
|
|
Posted On |
2013-06-21 |