Incidental Mutation 'R9265:Mcm3'
ID |
702457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcm3
|
Ensembl Gene |
ENSMUSG00000041859 |
Gene Name |
minichromosome maintenance complex component 3 |
Synonyms |
p1.m, Mcmd, P1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9265 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
20873192-20890536 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 20879905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 531
(D531Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053266]
|
AlphaFold |
P25206 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053266
AA Change: D531Y
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000059192 Gene: ENSMUSG00000041859 AA Change: D531Y
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: 99.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3a2 |
T |
C |
11: 61,153,094 (GRCm39) |
K211E |
probably damaging |
Het |
Apba2 |
G |
T |
7: 64,393,020 (GRCm39) |
A514S |
probably damaging |
Het |
Aspm |
C |
T |
1: 139,389,182 (GRCm39) |
T615I |
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,766,359 (GRCm39) |
F1232Y |
probably benign |
Het |
B4galt3 |
A |
G |
1: 171,101,617 (GRCm39) |
D197G |
probably damaging |
Het |
Calcrl |
T |
G |
2: 84,200,400 (GRCm39) |
N127H |
possibly damaging |
Het |
Camkv |
T |
G |
9: 107,825,262 (GRCm39) |
I421S |
possibly damaging |
Het |
Cdc123 |
T |
C |
2: 5,808,765 (GRCm39) |
D237G |
possibly damaging |
Het |
Cilp |
A |
G |
9: 65,187,333 (GRCm39) |
T1143A |
probably benign |
Het |
Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
Cpn1 |
T |
C |
19: 43,958,599 (GRCm39) |
I201V |
probably damaging |
Het |
Cr1l |
T |
C |
1: 194,806,027 (GRCm39) |
D152G |
probably benign |
Het |
Csf2rb |
A |
T |
15: 78,232,746 (GRCm39) |
E684D |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,294,163 (GRCm39) |
N1164I |
|
Het |
Ddx42 |
A |
G |
11: 106,132,435 (GRCm39) |
N486S |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,060,040 (GRCm39) |
I2848T |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,674,505 (GRCm39) |
D424G |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,732,081 (GRCm39) |
H4275R |
probably benign |
Het |
Epha6 |
G |
A |
16: 59,476,117 (GRCm39) |
T1083M |
probably damaging |
Het |
Fzd1 |
A |
G |
5: 4,807,216 (GRCm39) |
I122T |
probably damaging |
Het |
Gm28042 |
T |
C |
2: 119,871,705 (GRCm39) |
F914S |
probably damaging |
Het |
Gpatch11 |
A |
G |
17: 79,146,547 (GRCm39) |
D64G |
probably benign |
Het |
Hinfp |
A |
G |
9: 44,209,083 (GRCm39) |
V345A |
possibly damaging |
Het |
Hoxd8 |
C |
T |
2: 74,536,115 (GRCm39) |
S75L |
probably benign |
Het |
Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
Krt42 |
C |
T |
11: 100,157,808 (GRCm39) |
E219K |
probably damaging |
Het |
Msantd1 |
C |
T |
5: 35,080,861 (GRCm39) |
R264* |
probably null |
Het |
Nadk2 |
A |
G |
15: 9,071,774 (GRCm39) |
T65A |
probably damaging |
Het |
Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,089,456 (GRCm39) |
D5172G |
probably null |
Het |
Nlrp9a |
G |
T |
7: 26,258,038 (GRCm39) |
R552I |
possibly damaging |
Het |
Nr3c2 |
A |
G |
8: 77,636,236 (GRCm39) |
T446A |
probably benign |
Het |
Or4x11 |
T |
C |
2: 89,867,842 (GRCm39) |
I193T |
probably benign |
Het |
Or51g2 |
C |
T |
7: 102,623,112 (GRCm39) |
W29* |
probably null |
Het |
Or52s6 |
C |
A |
7: 103,092,165 (GRCm39) |
R55L |
possibly damaging |
Het |
Or7g21 |
T |
A |
9: 19,032,984 (GRCm39) |
C241* |
probably null |
Het |
Pcdhb10 |
A |
G |
18: 37,546,553 (GRCm39) |
Q543R |
possibly damaging |
Het |
Pcdhga6 |
A |
G |
18: 37,841,102 (GRCm39) |
H274R |
possibly damaging |
Het |
Pknox1 |
A |
G |
17: 31,809,672 (GRCm39) |
D92G |
probably damaging |
Het |
Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
Rlf |
G |
C |
4: 121,007,487 (GRCm39) |
P608A |
possibly damaging |
Het |
Sardh |
A |
T |
2: 27,105,065 (GRCm39) |
I686N |
probably damaging |
Het |
Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,168 (GRCm39) |
Y113C |
probably damaging |
Het |
Syndig1 |
T |
C |
2: 149,845,160 (GRCm39) |
F228L |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,937,795 (GRCm39) |
C375* |
probably null |
Het |
Zscan4c |
T |
A |
7: 10,740,824 (GRCm39) |
S114R |
probably benign |
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 |
R8441:Mcm3
|
UTSW |
1 |
20,884,690 (GRCm39) |
missense |
probably benign |
0.06 |
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'- CTGAGCCTGAACTGAGTCAAG -3'
(R):5'- GTGAGGTCCATGTGTCTCTTCC -3'
Sequencing Primer
(F):5'- GCAACTAGCTAGGTCAAGTGC -3'
(R):5'- GTGTCTCTTCCTTCCTCCTGGG -3'
|
Posted On |
2022-03-25 |