Incidental Mutation 'R5759:Mcm3'
ID |
445168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcm3
|
Ensembl Gene |
ENSMUSG00000041859 |
Gene Name |
minichromosome maintenance complex component 3 |
Synonyms |
p1.m, Mcmd, P1 |
MMRRC Submission |
043361-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5759 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
20873192-20890536 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CT to CTT
at 20878972 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 null
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: ENSMUST00000190421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191061
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 95.1%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,774,419 (GRCm39) |
S1203P |
probably benign |
Het |
Adamts1 |
A |
G |
16: 85,594,936 (GRCm39) |
V341A |
possibly damaging |
Het |
Arf2 |
G |
A |
11: 103,874,459 (GRCm39) |
G144S |
probably benign |
Het |
Atr |
A |
G |
9: 95,756,455 (GRCm39) |
N862D |
probably benign |
Het |
Cep295nl |
T |
C |
11: 118,224,472 (GRCm39) |
H124R |
possibly damaging |
Het |
Chd6 |
C |
T |
2: 160,825,682 (GRCm39) |
V1141I |
possibly damaging |
Het |
Chst5 |
C |
A |
8: 112,616,842 (GRCm39) |
K259N |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,413,383 (GRCm39) |
D1144V |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,282,792 (GRCm39) |
Y2795C |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,316,280 (GRCm39) |
N3131S |
probably damaging |
Het |
Dnah7c |
G |
A |
1: 46,654,527 (GRCm39) |
G1436R |
probably damaging |
Het |
Emp2 |
T |
A |
16: 10,102,374 (GRCm39) |
Y146F |
probably damaging |
Het |
Exoc6 |
C |
T |
19: 37,562,189 (GRCm39) |
Q148* |
probably null |
Het |
Fam13b |
T |
C |
18: 34,630,488 (GRCm39) |
D90G |
probably damaging |
Het |
Fam186b |
T |
G |
15: 99,177,598 (GRCm39) |
Y576S |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,857,775 (GRCm39) |
V2023A |
probably benign |
Het |
Grm5 |
A |
C |
7: 87,675,808 (GRCm39) |
M441L |
probably damaging |
Het |
Hhatl |
A |
G |
9: 121,617,343 (GRCm39) |
Y297H |
probably damaging |
Het |
Ifi30 |
A |
G |
8: 71,219,188 (GRCm39) |
|
probably benign |
Het |
Ing2 |
G |
T |
8: 48,122,040 (GRCm39) |
N169K |
possibly damaging |
Het |
Kat6a |
T |
G |
8: 23,428,028 (GRCm39) |
S1128A |
probably benign |
Het |
Madd |
T |
C |
2: 90,992,420 (GRCm39) |
E1041G |
possibly damaging |
Het |
Mfsd5 |
G |
A |
15: 102,189,513 (GRCm39) |
G295D |
possibly damaging |
Het |
Minar1 |
A |
T |
9: 89,483,125 (GRCm39) |
N757K |
probably benign |
Het |
Mmp20 |
T |
A |
9: 7,628,378 (GRCm39) |
|
probably null |
Het |
Mybphl |
T |
C |
3: 108,282,070 (GRCm39) |
V100A |
probably benign |
Het |
Ndfip2 |
T |
A |
14: 105,539,750 (GRCm39) |
|
probably null |
Het |
Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
Or7e175 |
T |
A |
9: 20,049,228 (GRCm39) |
V272E |
probably benign |
Het |
Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
Phf19 |
T |
G |
2: 34,787,135 (GRCm39) |
D443A |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,234,394 (GRCm39) |
V84A |
probably damaging |
Het |
Septin9 |
A |
G |
11: 117,243,094 (GRCm39) |
I94V |
probably benign |
Het |
Slc35a1 |
C |
A |
4: 34,675,032 (GRCm39) |
V132L |
probably benign |
Het |
Sntg1 |
G |
A |
1: 8,484,494 (GRCm39) |
S442L |
probably benign |
Het |
Tcf25 |
A |
G |
8: 124,108,196 (GRCm39) |
T84A |
probably benign |
Het |
Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,075,041 (GRCm39) |
E76G |
probably damaging |
Het |
Tnk2 |
C |
T |
16: 32,499,482 (GRCm39) |
P932S |
probably benign |
Het |
Trib1 |
G |
A |
15: 59,526,350 (GRCm39) |
V307I |
probably benign |
Het |
Trib3 |
A |
T |
2: 152,185,215 (GRCm39) |
D11E |
probably benign |
Het |
Trim34b |
T |
C |
7: 103,980,640 (GRCm39) |
S243P |
possibly damaging |
Het |
Vmn2r50 |
A |
G |
7: 9,781,905 (GRCm39) |
I280T |
probably damaging |
Het |
Zfp1010 |
A |
T |
2: 176,956,765 (GRCm39) |
C244* |
probably null |
Het |
Zfp445 |
G |
T |
9: 122,682,211 (GRCm39) |
Q577K |
probably benign |
Het |
Zfp599 |
T |
C |
9: 22,160,957 (GRCm39) |
K403E |
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 |
|
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 |
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'- TGGCGGACATTCTTATTACATCTG -3'
(R):5'- GAAATGCTTTGTGTGTCCCCTC -3'
Sequencing Primer
(F):5'- CGGACATTCTTATTACATCTGAGGTC -3'
(R):5'- GAGGTAAAGCATGGCCCC -3'
|
Posted On |
2016-11-21 |