Incidental Mutation 'PIT4687001:Mcm4'
ID |
556206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcm4
|
Ensembl Gene |
ENSMUSG00000022673 |
Gene Name |
minichromosome maintenance complex component 4 |
Synonyms |
mCdc21, Mcmd4, 19G, Cdc21 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
PIT4687001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
15441761-15455264 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15454577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 47
(L47P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023352]
[ENSMUST00000023353]
|
AlphaFold |
P49717 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023352
|
SMART Domains |
Protein: ENSMUSP00000023352 Gene: ENSMUSG00000022672
Domain | Start | End | E-Value | Type |
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
low complexity region
|
1253 |
1263 |
N/A |
INTRINSIC |
low complexity region
|
1508 |
1522 |
N/A |
INTRINSIC |
NUC194
|
1810 |
2206 |
2.37e-246 |
SMART |
SCOP:d1gw5a_
|
2210 |
2493 |
5e-3 |
SMART |
low complexity region
|
2669 |
2681 |
N/A |
INTRINSIC |
low complexity region
|
2841 |
2855 |
N/A |
INTRINSIC |
Pfam:FAT
|
3024 |
3470 |
8.2e-75 |
PFAM |
PI3Kc
|
3749 |
4068 |
3.67e-86 |
SMART |
FATC
|
4096 |
4128 |
1.57e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023353
AA Change: L47P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000023353 Gene: ENSMUSG00000022673 AA Change: L47P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
MCM
|
266 |
769 |
N/A |
SMART |
AAA
|
501 |
653 |
7.04e-3 |
SMART |
Blast:MCM
|
781 |
849 |
3e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229606
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230437
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
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 essential for 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. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] PHENOTYPE: Disruption of this allele cause chromosomal instability as assessed by micronucleus levels in erythrocytes. Mice homozygous for a spontaneous allele exhibit early onset T cell acute lymphoblastic leukemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
Other mutations in Mcm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01823:Mcm4
|
APN |
16 |
15,443,995 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01982:Mcm4
|
APN |
16 |
15,448,284 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02382:Mcm4
|
APN |
16 |
15,442,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Mcm4
|
UTSW |
16 |
15,447,503 (GRCm39) |
missense |
probably benign |
0.41 |
R0540:Mcm4
|
UTSW |
16 |
15,449,979 (GRCm39) |
critical splice donor site |
probably null |
|
R0607:Mcm4
|
UTSW |
16 |
15,449,979 (GRCm39) |
critical splice donor site |
probably null |
|
R2064:Mcm4
|
UTSW |
16 |
15,452,333 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4240:Mcm4
|
UTSW |
16 |
15,445,570 (GRCm39) |
nonsense |
probably null |
|
R4604:Mcm4
|
UTSW |
16 |
15,447,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Mcm4
|
UTSW |
16 |
15,452,374 (GRCm39) |
nonsense |
probably null |
|
R5070:Mcm4
|
UTSW |
16 |
15,443,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5125:Mcm4
|
UTSW |
16 |
15,453,167 (GRCm39) |
missense |
probably benign |
0.21 |
R5178:Mcm4
|
UTSW |
16 |
15,453,167 (GRCm39) |
missense |
probably benign |
0.21 |
R5245:Mcm4
|
UTSW |
16 |
15,448,289 (GRCm39) |
missense |
probably benign |
0.02 |
R5513:Mcm4
|
UTSW |
16 |
15,448,378 (GRCm39) |
missense |
probably benign |
0.26 |
R5696:Mcm4
|
UTSW |
16 |
15,443,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R6453:Mcm4
|
UTSW |
16 |
15,448,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Mcm4
|
UTSW |
16 |
15,447,226 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6909:Mcm4
|
UTSW |
16 |
15,446,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6937:Mcm4
|
UTSW |
16 |
15,454,199 (GRCm39) |
missense |
probably benign |
|
R7402:Mcm4
|
UTSW |
16 |
15,455,042 (GRCm39) |
start codon destroyed |
probably null |
|
R7483:Mcm4
|
UTSW |
16 |
15,448,306 (GRCm39) |
missense |
probably benign |
0.05 |
R8275:Mcm4
|
UTSW |
16 |
15,452,435 (GRCm39) |
missense |
probably damaging |
0.98 |
R8487:Mcm4
|
UTSW |
16 |
15,450,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Mcm4
|
UTSW |
16 |
15,453,138 (GRCm39) |
missense |
probably damaging |
0.99 |
R8742:Mcm4
|
UTSW |
16 |
15,443,430 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8929:Mcm4
|
UTSW |
16 |
15,448,289 (GRCm39) |
missense |
probably benign |
0.02 |
R9138:Mcm4
|
UTSW |
16 |
15,447,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R9440:Mcm4
|
UTSW |
16 |
15,453,175 (GRCm39) |
nonsense |
probably null |
|
Z1177:Mcm4
|
UTSW |
16 |
15,450,080 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1177:Mcm4
|
UTSW |
16 |
15,447,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCCTCAGGTGTTTCAGTGAAG -3'
(R):5'- GTCAGTTCAGTTGACCCACC -3'
Sequencing Primer
(F):5'- GGTGTTTCAGTGAAGAATCTATCAG -3'
(R):5'- CTTGAGCGTTGATCGTCT -3'
|
Posted On |
2019-06-07 |