Incidental Mutation 'R7701:Mcm5'
| ID |
594004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm5
|
| Ensembl Gene |
ENSMUSG00000005410 |
| Gene Name |
minichromosome maintenance complex component 5 |
| Synonyms |
mCD46, Mcmd5, Cdc46 |
| MMRRC Submission |
045762-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7701 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
75836197-75855067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75850551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 596
(H596N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164309]
[ENSMUST00000212426]
[ENSMUST00000212811]
|
| AlphaFold |
P49718 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164309
AA Change: H596N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000126135
Gene: ENSMUSG00000005410
AA Change: H596N
| Domain | Start | End | E-Value | Type |
|---|
|
MCM
|
133 |
649 |
N/A |
SMART |
|
Blast:MCM
|
693 |
734 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212426
AA Change: H596N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212811
AA Change: H596N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
T |
C |
2: 170,443,225 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
A |
2: 68,561,548 (GRCm39) |
V292M |
possibly damaging |
Het |
| Actn1 |
A |
T |
12: 80,221,328 (GRCm39) |
V575E |
possibly damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,003 (GRCm39) |
S129P |
probably benign |
Het |
| Aup1 |
T |
C |
6: 83,032,908 (GRCm39) |
V214A |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,135,874 (GRCm39) |
E329G |
probably damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,030 (GRCm39) |
|
probably null |
Het |
| Ccdc3 |
A |
G |
2: 5,142,868 (GRCm39) |
T42A |
possibly damaging |
Het |
| Cd276 |
T |
C |
9: 58,442,810 (GRCm39) |
N215S |
probably benign |
Het |
| Col24a1 |
T |
A |
3: 145,020,772 (GRCm39) |
M381K |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,072,656 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
C |
9: 105,960,087 (GRCm39) |
F19V |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,865,139 (GRCm39) |
A1446E |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,140,670 (GRCm39) |
R496K |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,253,513 (GRCm39) |
T2308A |
possibly damaging |
Het |
| Duxf1 |
A |
G |
10: 58,058,885 (GRCm39) |
V623A |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,585,080 (GRCm39) |
D828N |
probably damaging |
Het |
| Eif2a |
A |
T |
3: 58,459,991 (GRCm39) |
H462L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,928,942 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
G |
7: 51,643,101 (GRCm39) |
Y263* |
probably null |
Het |
| Gm5111 |
A |
G |
6: 48,567,027 (GRCm39) |
I81V |
unknown |
Het |
| Iqcm |
A |
G |
8: 76,281,539 (GRCm39) |
I7M |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,129 (GRCm39) |
|
probably null |
Het |
| Lnx2 |
A |
T |
5: 146,961,333 (GRCm39) |
V533E |
probably damaging |
Het |
| Mapk8ip3 |
G |
T |
17: 25,120,378 (GRCm39) |
P904T |
possibly damaging |
Het |
| Miip |
A |
T |
4: 147,947,371 (GRCm39) |
V237E |
probably null |
Het |
| Mob3a |
G |
A |
10: 80,525,768 (GRCm39) |
A181V |
probably damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,026,104 (GRCm39) |
R99W |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,564,042 (GRCm39) |
T486A |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,854,030 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or5b102 |
A |
G |
19: 13,041,445 (GRCm39) |
I223M |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,597 (GRCm39) |
Y305C |
probably benign |
Het |
| Pcdha8 |
A |
T |
18: 37,126,864 (GRCm39) |
N449Y |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,562 (GRCm39) |
D161V |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,361,576 (GRCm39) |
D134G |
probably benign |
Het |
| Phpt1 |
A |
G |
2: 25,464,799 (GRCm39) |
V18A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,333,293 (GRCm39) |
K177E |
possibly damaging |
Het |
| Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
| Rab14 |
A |
G |
2: 35,073,427 (GRCm39) |
F150L |
|
Het |
| Rgs14 |
A |
G |
13: 55,527,138 (GRCm39) |
D169G |
probably damaging |
Het |
| Rreb1 |
C |
T |
13: 38,114,092 (GRCm39) |
L484F |
possibly damaging |
Het |
| Rsph14 |
A |
T |
10: 74,793,608 (GRCm39) |
Y264* |
probably null |
Het |
| Scly |
T |
C |
1: 91,236,030 (GRCm39) |
I152T |
|
Het |
| Ska1 |
A |
T |
18: 74,335,714 (GRCm39) |
H85Q |
probably damaging |
Het |
| Slc35b3 |
T |
C |
13: 39,128,611 (GRCm39) |
M159V |
probably benign |
Het |
| Smok2b |
A |
G |
17: 13,453,767 (GRCm39) |
|
probably benign |
Het |
| Spock1 |
G |
A |
13: 57,735,472 (GRCm39) |
Q103* |
probably null |
Het |
| Topbp1 |
T |
C |
9: 103,210,184 (GRCm39) |
V914A |
probably damaging |
Het |
| Tspan3 |
A |
T |
9: 56,054,803 (GRCm39) |
Y41* |
probably null |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,560,028 (GRCm39) |
I29458L |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,052,757 (GRCm39) |
E346* |
probably null |
Het |
| Zfp341 |
T |
A |
2: 154,476,000 (GRCm39) |
|
probably null |
Het |
| Zfp54 |
A |
G |
17: 21,654,357 (GRCm39) |
T284A |
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 |
|
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 |
|
|
R9194:Mcm5
|
UTSW |
8 |
75,836,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TCATCTTTGAGAGCCGATAGAGG -3'
(R):5'- CTCTCAAAGAGGGAAGCCAG -3'
Sequencing Primer
(F):5'- CCGATAGAGGCCTGGGAAC -3'
(R):5'- AATAAAGTAGTGAGACCTACCCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation