Incidental Mutation 'R8549:Mcm6'
| ID |
659763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm6
|
| Ensembl Gene |
ENSMUSG00000026355 |
| Gene Name |
minichromosome maintenance complex component 6 |
| Synonyms |
D1Wsu22e, Mcmd6 |
| MMRRC Submission |
068514-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8549 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
128259327-128287401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128273685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 382
(E382K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027601]
[ENSMUST00000190495]
|
| AlphaFold |
P97311 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027601
AA Change: E382K
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355
AA Change: E382K
| Domain | Start | End | E-Value | Type |
|---|
|
MCM
|
119 |
657 |
1.43e-270 |
SMART |
|
PDB:2LE8|A
|
710 |
821 |
1e-47 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190495
AA Change: E382K
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355
AA Change: E382K
| Domain | Start | End | E-Value | Type |
|---|
|
MCM
|
119 |
657 |
1.43e-270 |
SMART |
|
PDB:2LE8|A
|
710 |
783 |
3e-29 |
PDB |
|
| Meta Mutation Damage Score |
0.2658 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (45/45) |
| 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 essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the 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. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells. [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 |
|---|
| 4930562C15Rik |
T |
C |
16: 4,681,061 (GRCm39) |
|
probably null |
Het |
| Aadacl4 |
G |
A |
4: 144,349,726 (GRCm39) |
V328I |
probably benign |
Het |
| Adcy7 |
A |
T |
8: 89,052,818 (GRCm39) |
H968L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,988,847 (GRCm39) |
G3377E |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,818,012 (GRCm39) |
T56A |
possibly damaging |
Het |
| Anpep |
A |
G |
7: 79,490,644 (GRCm39) |
S291P |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,106,365 (GRCm39) |
P1493S |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| C1rb |
T |
C |
6: 124,551,498 (GRCm39) |
Y203H |
probably benign |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,560,027 (GRCm39) |
E898G |
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,928,794 (GRCm39) |
D881G |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 44,041,886 (GRCm39) |
D364E |
possibly damaging |
Het |
| Defb33 |
G |
A |
8: 21,387,594 (GRCm39) |
G44R |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,890,521 (GRCm39) |
E4201V |
probably damaging |
Het |
| Ehhadh |
A |
T |
16: 21,585,168 (GRCm39) |
S238T |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,076,288 (GRCm39) |
R612Q |
possibly damaging |
Het |
| Eps8l1 |
G |
T |
7: 4,473,853 (GRCm39) |
R220L |
probably damaging |
Het |
| Frmd8 |
A |
G |
19: 5,919,565 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Gad2 |
T |
A |
2: 22,525,059 (GRCm39) |
|
probably null |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gm5460 |
T |
C |
14: 33,758,892 (GRCm39) |
F184L |
possibly damaging |
Het |
| Grip2 |
C |
A |
6: 91,750,769 (GRCm39) |
|
probably null |
Het |
| Hrh4 |
T |
C |
18: 13,155,115 (GRCm39) |
F218S |
possibly damaging |
Het |
| Ippk |
T |
C |
13: 49,615,177 (GRCm39) |
V520A |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,815,236 (GRCm39) |
Y189N |
probably benign |
Het |
| Kif9 |
T |
G |
9: 110,343,487 (GRCm39) |
|
probably null |
Het |
| L1td1 |
T |
C |
4: 98,626,280 (GRCm39) |
F825S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,607,448 (GRCm39) |
T674A |
probably benign |
Het |
| Nbeal1 |
G |
A |
1: 60,274,721 (GRCm39) |
|
probably null |
Het |
| Nip7 |
C |
A |
8: 107,784,605 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
A |
G |
11: 6,168,675 (GRCm39) |
F902S |
probably damaging |
Het |
| Or4k48 |
C |
T |
2: 111,479,512 (GRCm39) |
|
probably benign |
Het |
| Pcdha6 |
T |
G |
18: 37,101,594 (GRCm39) |
I262M |
possibly damaging |
Het |
| Pcdhga1 |
T |
A |
18: 37,966,386 (GRCm39) |
*56R |
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,206,853 (GRCm39) |
Y959C |
probably benign |
Het |
| Rnase9 |
T |
A |
14: 51,276,448 (GRCm39) |
I177L |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,434,624 (GRCm39) |
N437S |
probably benign |
Het |
| Rufy3 |
T |
A |
5: 88,795,073 (GRCm39) |
|
probably null |
Het |
| Snx29 |
T |
C |
16: 11,532,920 (GRCm39) |
|
probably null |
Het |
| Szt2 |
C |
A |
4: 118,229,878 (GRCm39) |
R2751L |
unknown |
Het |
| Tagap |
A |
G |
17: 8,152,797 (GRCm39) |
T661A |
probably benign |
Het |
| Tcp10b |
T |
A |
17: 13,281,915 (GRCm39) |
I95K |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,201,577 (GRCm39) |
F637L |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,985,399 (GRCm39) |
V290E |
probably benign |
Het |
| Zfp41 |
C |
T |
15: 75,490,540 (GRCm39) |
T164M |
probably benign |
Het |
| Zfp707 |
T |
A |
15: 75,846,547 (GRCm39) |
I126N |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,346 (GRCm39) |
E151G |
probably damaging |
Het |
|
| Other mutations in Mcm6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Mcm6
|
APN |
1 |
128,272,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01420:Mcm6
|
APN |
1 |
128,273,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01746:Mcm6
|
APN |
1 |
128,281,261 (GRCm39) |
nonsense |
probably null |
|
|
IGL02256:Mcm6
|
APN |
1 |
128,263,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02624:Mcm6
|
APN |
1 |
128,277,185 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02732:Mcm6
|
APN |
1 |
128,287,227 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02750:Mcm6
|
APN |
1 |
128,271,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02926:Mcm6
|
APN |
1 |
128,267,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Mcm6
|
APN |
1 |
128,272,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03238:Mcm6
|
APN |
1 |
128,283,257 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03397:Mcm6
|
APN |
1 |
128,272,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Mcm6
|
UTSW |
1 |
128,261,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0501:Mcm6
|
UTSW |
1 |
128,283,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0885:Mcm6
|
UTSW |
1 |
128,276,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1013:Mcm6
|
UTSW |
1 |
128,276,778 (GRCm39) |
missense |
probably benign |
|
|
R1319:Mcm6
|
UTSW |
1 |
128,276,789 (GRCm39) |
missense |
probably benign |
|
|
R1396:Mcm6
|
UTSW |
1 |
128,279,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Mcm6
|
UTSW |
1 |
128,277,155 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1891:Mcm6
|
UTSW |
1 |
128,263,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Mcm6
|
UTSW |
1 |
128,273,726 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3411:Mcm6
|
UTSW |
1 |
128,279,322 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4564:Mcm6
|
UTSW |
1 |
128,271,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Mcm6
|
UTSW |
1 |
128,279,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4627:Mcm6
|
UTSW |
1 |
128,279,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4628:Mcm6
|
UTSW |
1 |
128,279,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4916:Mcm6
|
UTSW |
1 |
128,276,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Mcm6
|
UTSW |
1 |
128,287,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Mcm6
|
UTSW |
1 |
128,263,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5016:Mcm6
|
UTSW |
1 |
128,271,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5204:Mcm6
|
UTSW |
1 |
128,261,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5229:Mcm6
|
UTSW |
1 |
128,261,321 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5607:Mcm6
|
UTSW |
1 |
128,283,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5811:Mcm6
|
UTSW |
1 |
128,263,465 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5816:Mcm6
|
UTSW |
1 |
128,276,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7204:Mcm6
|
UTSW |
1 |
128,265,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Mcm6
|
UTSW |
1 |
128,287,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Mcm6
|
UTSW |
1 |
128,265,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Mcm6
|
UTSW |
1 |
128,273,685 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8547:Mcm6
|
UTSW |
1 |
128,273,685 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8785:Mcm6
|
UTSW |
1 |
128,262,535 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8878:Mcm6
|
UTSW |
1 |
128,283,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9043:Mcm6
|
UTSW |
1 |
128,271,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Mcm6
|
UTSW |
1 |
128,279,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mcm6
|
UTSW |
1 |
128,272,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTGACTGCACCCTTG -3'
(R):5'- TATGTGTCATACCAAGAGGGAAGAC -3'
Sequencing Primer
(F):5'- ACTGACTGCACCCTTGGTAGC -3'
(R):5'- CAGAGGACAGCTTTGTAGAGTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation