Incidental Mutation 'R8441:Mcm3'
| ID |
654188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm3
|
| Ensembl Gene |
ENSMUSG00000041859 |
| Gene Name |
minichromosome maintenance complex component 3 |
| Synonyms |
p1.m, Mcmd, P1 |
| MMRRC Submission |
067885-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8441 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
20873192-20890536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20884690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 271
(D271G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053266]
|
| AlphaFold |
P25206 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053266
AA Change: D271G
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
AA Change: D271G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,087,574 (GRCm39) |
Y1064H |
possibly damaging |
Het |
| Ahrr |
T |
C |
13: 74,362,182 (GRCm39) |
D567G |
probably benign |
Het |
| Aldh1b1 |
T |
A |
4: 45,802,465 (GRCm39) |
M1K |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,349,546 (GRCm39) |
S96T |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,041,237 (GRCm39) |
|
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cmpk2 |
G |
A |
12: 26,527,204 (GRCm39) |
A398T |
probably benign |
Het |
| Cpn2 |
A |
G |
16: 30,078,849 (GRCm39) |
L284P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,432,658 (GRCm39) |
D1221G |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,572,398 (GRCm39) |
K957R |
probably damaging |
Het |
| Eif1ad2 |
T |
G |
12: 87,786,384 (GRCm39) |
D98E |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,896,488 (GRCm38) |
V893E |
probably benign |
Het |
| Flrt3 |
C |
A |
2: 140,502,546 (GRCm39) |
V361L |
probably benign |
Het |
| Fnta |
G |
A |
8: 26,501,209 (GRCm39) |
R104* |
probably null |
Het |
| Ggt1 |
C |
T |
10: 75,415,185 (GRCm39) |
T233I |
possibly damaging |
Het |
| Gpr37l1 |
A |
T |
1: 135,094,875 (GRCm39) |
V123E |
probably damaging |
Het |
| Grpel1 |
A |
G |
5: 36,622,556 (GRCm39) |
R7G |
probably benign |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,199 (GRCm39) |
I54L |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,139,474 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,422,265 (GRCm39) |
V1256A |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,322,599 (GRCm39) |
V2604A |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,073,204 (GRCm39) |
D213V |
probably damaging |
Het |
| Npbwr1 |
G |
A |
1: 5,987,397 (GRCm39) |
A39V |
possibly damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,632,888 (GRCm39) |
D191G |
probably benign |
Het |
| Olfml1 |
T |
G |
7: 107,166,977 (GRCm39) |
V2G |
probably benign |
Het |
| Or4k38 |
A |
T |
2: 111,166,131 (GRCm39) |
Y97* |
probably null |
Het |
| Or5b105 |
T |
A |
19: 13,080,020 (GRCm39) |
Y216F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,538,200 (GRCm39) |
K1175E |
probably damaging |
Het |
| Pira13 |
C |
A |
7: 3,826,301 (GRCm39) |
E231* |
probably null |
Het |
| Plekhg2 |
C |
T |
7: 28,060,291 (GRCm39) |
V989I |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,253,037 (GRCm39) |
D229G |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,075,255 (GRCm39) |
|
probably benign |
Het |
| Rest |
G |
T |
5: 77,429,766 (GRCm39) |
Q728H |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,494,423 (GRCm39) |
I868N |
probably damaging |
Het |
| Spcs3 |
A |
G |
8: 54,981,375 (GRCm39) |
|
probably null |
Het |
| Speg |
A |
G |
1: 75,387,976 (GRCm39) |
S1445G |
possibly damaging |
Het |
| Spmap2 |
C |
A |
10: 79,412,510 (GRCm39) |
R327L |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,200 (GRCm39) |
F261S |
possibly damaging |
Het |
| Trav9d-4 |
A |
G |
14: 53,221,284 (GRCm39) |
S93G |
probably benign |
Het |
| Trbv5 |
T |
A |
6: 41,039,517 (GRCm39) |
C41S |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,626,171 (GRCm39) |
S1131P |
possibly damaging |
Het |
| Ttc28 |
C |
T |
5: 111,325,507 (GRCm39) |
R313* |
probably null |
Het |
| Ubap2l |
T |
C |
3: 89,920,007 (GRCm39) |
T853A |
unknown |
Het |
| Xirp2 |
T |
C |
2: 67,343,159 (GRCm39) |
V1800A |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,985 (GRCm39) |
L1333P |
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 |
|
|
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 |
|
|
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 |
|
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'- TTAGGTTCAACTGAGCAGCCC -3'
(R):5'- AACAGGCATTCCGTCCTCAC -3'
Sequencing Primer
(F):5'- GTTCAACTGAGCAGCCCAGAAG -3'
(R):5'- CTCACTGTGGCTGGTGGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation