Incidental Mutation 'R9194:Mcm5'
| ID |
697859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm5
|
| Ensembl Gene |
ENSMUSG00000005410 |
| Gene Name |
minichromosome maintenance complex component 5 |
| Synonyms |
mCD46, Mcmd5, Cdc46 |
| MMRRC Submission |
068953-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
75836197-75855067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75836962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 110
(V110G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164309]
[ENSMUST00000212426]
[ENSMUST00000212811]
|
| AlphaFold |
P49718 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164309
AA Change: V110G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: V110G
| Domain | Start | End | E-Value | Type |
|---|
|
MCM
|
133 |
649 |
N/A |
SMART |
|
Blast:MCM
|
693 |
734 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212426
AA Change: V110G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212811
AA Change: V110G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.5272 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (44/47) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the oligameric minichromosome maintenance protein complex. During DNA replication, the complex loads onto chromatin in early G1 and is converted into an active replicative helicase during S phase. It functions to limit DNA synthesis to once per cell cycle. During embryogenesis, the encoded protein is negatively regulated through expression of paired box protein Pax 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [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 |
|---|
| 1700017B05Rik |
A |
T |
9: 57,166,371 (GRCm39) |
M1K |
probably null |
Het |
| Adra1b |
A |
T |
11: 43,726,263 (GRCm39) |
V218D |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,606,255 (GRCm39) |
S1216G |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap44 |
G |
T |
16: 44,288,824 (GRCm39) |
D1525Y |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,439,650 (GRCm39) |
M2341K |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,319 (GRCm39) |
T249A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,850 (GRCm39) |
V336A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,419,153 (GRCm39) |
L648P |
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,200,173 (GRCm39) |
V864A |
probably benign |
Het |
| Enpp3 |
G |
A |
10: 24,675,092 (GRCm39) |
H362Y |
possibly damaging |
Het |
| Ess2 |
A |
T |
16: 17,728,028 (GRCm39) |
D79E |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,671,299 (GRCm39) |
Y712F |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,561,113 (GRCm39) |
Q1392* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,479,961 (GRCm39) |
H143R |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,720,881 (GRCm39) |
D315G |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,236,174 (GRCm39) |
K141R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,391,676 (GRCm39) |
P1250S |
probably benign |
Het |
| Med27 |
G |
A |
2: 29,361,312 (GRCm39) |
D163N |
probably damaging |
Het |
| Mms22l |
C |
A |
4: 24,600,185 (GRCm39) |
Y1129* |
probably null |
Het |
| Mov10l1 |
G |
A |
15: 88,931,023 (GRCm39) |
R1081H |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,380,834 (GRCm39) |
Q171* |
probably null |
Het |
| Mtpap |
C |
G |
18: 4,380,833 (GRCm39) |
N170K |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,836 (GRCm39) |
F271I |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,751,258 (GRCm39) |
A26T |
probably benign |
Het |
| Or7d11 |
C |
A |
9: 19,966,543 (GRCm39) |
C72F |
probably damaging |
Het |
| Piezo2 |
G |
C |
18: 63,250,815 (GRCm39) |
T428S |
probably benign |
Het |
| Prkch |
A |
G |
12: 73,768,616 (GRCm39) |
E462G |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,823,131 (GRCm39) |
Y576C |
probably damaging |
Het |
| Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
| Rpp40 |
C |
T |
13: 36,080,898 (GRCm39) |
D302N |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,615,969 (GRCm39) |
V631A |
probably damaging |
Het |
| Sstr2 |
A |
G |
11: 113,515,203 (GRCm39) |
T41A |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,843,371 (GRCm39) |
V861E |
possibly damaging |
Het |
| Tomm70a |
A |
G |
16: 56,973,070 (GRCm39) |
K603E |
possibly damaging |
Het |
| Tpd52l2 |
T |
A |
2: 181,141,683 (GRCm39) |
M22K |
possibly damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,860 (GRCm39) |
L110Q |
possibly damaging |
Het |
| Tram1l1 |
A |
G |
3: 124,115,137 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,778,325 (GRCm39) |
Y238H |
probably damaging |
Het |
| Vmn1r202 |
G |
T |
13: 22,686,316 (GRCm39) |
H34N |
possibly damaging |
Het |
| Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
| Xpnpep1 |
A |
T |
19: 53,000,289 (GRCm39) |
V187E |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,349 (GRCm39) |
I438V |
probably benign |
Het |
|
| Other mutations in Mcm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Mcm5
|
APN |
8 |
75,851,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00954:Mcm5
|
APN |
8 |
75,836,740 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02534:Mcm5
|
APN |
8 |
75,840,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Mcm5
|
APN |
8 |
75,845,929 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03176:Mcm5
|
APN |
8 |
75,836,481 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03240:Mcm5
|
APN |
8 |
75,842,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Mcm5
|
UTSW |
8 |
75,853,864 (GRCm39) |
missense |
probably benign |
|
|
R0133:Mcm5
|
UTSW |
8 |
75,847,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Mcm5
|
UTSW |
8 |
75,847,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Mcm5
|
UTSW |
8 |
75,852,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0733:Mcm5
|
UTSW |
8 |
75,853,876 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1217:Mcm5
|
UTSW |
8 |
75,852,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1601:Mcm5
|
UTSW |
8 |
75,845,982 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1834:Mcm5
|
UTSW |
8 |
75,845,901 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1958:Mcm5
|
UTSW |
8 |
75,848,257 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3410:Mcm5
|
UTSW |
8 |
75,848,272 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4133:Mcm5
|
UTSW |
8 |
75,842,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Mcm5
|
UTSW |
8 |
75,839,172 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5395:Mcm5
|
UTSW |
8 |
75,849,654 (GRCm39) |
missense |
probably benign |
|
|
R5710:Mcm5
|
UTSW |
8 |
75,847,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5714:Mcm5
|
UTSW |
8 |
75,847,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Mcm5
|
UTSW |
8 |
75,840,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6093:Mcm5
|
UTSW |
8 |
75,836,374 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6477:Mcm5
|
UTSW |
8 |
75,839,230 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6848:Mcm5
|
UTSW |
8 |
75,853,918 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7098:Mcm5
|
UTSW |
8 |
75,847,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Mcm5
|
UTSW |
8 |
75,848,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7278:Mcm5
|
UTSW |
8 |
75,851,487 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7552:Mcm5
|
UTSW |
8 |
75,848,220 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7701:Mcm5
|
UTSW |
8 |
75,850,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9072:Mcm5
|
UTSW |
8 |
75,852,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Mcm5
|
UTSW |
8 |
75,852,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Mcm5
|
UTSW |
8 |
75,851,418 (GRCm39) |
splice site |
probably benign |
|
|
R9489:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9491:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9492:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9557:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9605:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9607:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9608:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9609:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9654:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9655:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9656:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9657:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9659:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9662:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9663:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9709:Mcm5
|
UTSW |
8 |
75,842,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9730:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9731:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9732:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9773:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9774:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9785:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9786:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9788:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9789:Mcm5
|
UTSW |
8 |
75,844,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Mcm5
|
UTSW |
8 |
75,848,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGGTGAATACTGGATCG -3'
(R):5'- CATCTGGTGCTCCAAGCTAC -3'
Sequencing Primer
(F):5'- CTGGCCAGTTTTGACGAGGAAC -3'
(R):5'- AGCTACCTGTCTCAGACGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation