Incidental Mutation 'IGL02382:Mcm4'
| ID |
291424 |
| 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 # |
IGL02382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
15441761-15455264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15442602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 843
(L843Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023353]
|
| AlphaFold |
P49717 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023353
AA Change: L843Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: L843Q
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
A |
G |
1: 173,287,315 (GRCm39) |
|
probably null |
Het |
| Aoc2 |
T |
C |
11: 101,217,498 (GRCm39) |
L527P |
probably damaging |
Het |
| Arhgef15 |
C |
A |
11: 68,844,856 (GRCm39) |
R247L |
probably damaging |
Het |
| Armcx2 |
T |
C |
X: 133,706,416 (GRCm39) |
T406A |
probably benign |
Het |
| Armcx5 |
T |
C |
X: 134,647,577 (GRCm39) |
F551S |
probably damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,884,947 (GRCm39) |
K184E |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,953,147 (GRCm39) |
I1534V |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,791,840 (GRCm39) |
I381K |
probably benign |
Het |
| Crb1 |
T |
A |
1: 139,165,352 (GRCm39) |
N924I |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,925,934 (GRCm39) |
V729A |
probably damaging |
Het |
| Dab2 |
T |
A |
15: 6,466,468 (GRCm39) |
V615D |
possibly damaging |
Het |
| Edrf1 |
T |
C |
7: 133,252,344 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Gm14406 |
C |
A |
2: 177,260,988 (GRCm39) |
|
probably benign |
Het |
| Kptn |
T |
A |
7: 15,857,945 (GRCm39) |
S258T |
probably benign |
Het |
| Mbnl1 |
G |
T |
3: 60,532,563 (GRCm39) |
E291* |
probably null |
Het |
| Mgrn1 |
A |
G |
16: 4,740,482 (GRCm39) |
N274D |
probably damaging |
Het |
| Or13a21 |
T |
A |
7: 139,999,516 (GRCm39) |
T57S |
possibly damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,364 (GRCm39) |
G2D |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,098,152 (GRCm39) |
V335E |
probably damaging |
Het |
| Ptgr2 |
T |
C |
12: 84,360,722 (GRCm39) |
S331P |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,589,622 (GRCm39) |
|
probably null |
Het |
| Setd5 |
A |
G |
6: 113,120,601 (GRCm39) |
T937A |
probably benign |
Het |
| Slc27a4 |
C |
T |
2: 29,699,855 (GRCm39) |
R265C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tenm3 |
A |
G |
8: 48,688,511 (GRCm39) |
Y2359H |
probably damaging |
Het |
| Tnip3 |
T |
C |
6: 65,591,779 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
C |
T |
10: 115,252,781 (GRCm39) |
Q1365* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation