Incidental Mutation 'R5035:Mcm3'
| ID |
389480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm3
|
| Ensembl Gene |
ENSMUSG00000041859 |
| Gene Name |
minichromosome maintenance complex component 3 |
| Synonyms |
p1.m, Mcmd, P1 |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
20873192-20890536 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 20873642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053266]
|
| AlphaFold |
P25206 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053266
|
| SMART Domains |
Protein: ENSMUSP00000059192
Gene: ENSMUSG00000041859
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
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 |
|
|
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 |
|
|
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'- AAGACTCCCCATGTTTAGGACTG -3'
(R):5'- TTTTAAGGCGGCCCTCTTAG -3'
Sequencing Primer
(F):5'- CCATGTTTAGGACTGGGGCTTG -3'
(R):5'- CCCTCTTAGAAGTGTTCCAGGAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation