Incidental Mutation 'IGL01823:Mcm4'
| ID |
154599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
15441761-15455264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15443995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 756
(D756G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023353]
|
| AlphaFold |
P49717 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023353
AA Change: D756G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: D756G
| 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
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
| Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,485,865 (GRCm39) |
N104D |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
| Foxa3 |
T |
C |
7: 18,748,443 (GRCm39) |
T228A |
probably benign |
Het |
| Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
| Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
| Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,249 (GRCm39) |
C95R |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,159,358 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,175 (GRCm39) |
K158R |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,535,343 (GRCm39) |
N414S |
probably damaging |
Het |
| Wnt8a |
A |
T |
18: 34,677,846 (GRCm39) |
T85S |
possibly damaging |
Het |
|
| Other mutations in Mcm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
PIT4687001:Mcm4
|
UTSW |
16 |
15,454,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation