Incidental Mutation 'R4240:Mcm4'
| ID |
320189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm4
|
| Ensembl Gene |
ENSMUSG00000022673 |
| Gene Name |
minichromosome maintenance complex component 4 |
| Synonyms |
mCdc21, Mcmd4, 19G, Cdc21 |
| MMRRC Submission |
041057-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4240 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
15441761-15455264 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 15445570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 692
(Y692*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023353]
|
| AlphaFold |
P49717 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023353
AA Change: Y692*
|
| SMART Domains |
Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: Y692*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
93% (50/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930488N24Rik |
A |
T |
17: 14,326,049 (GRCm39) |
|
noncoding transcript |
Het |
| Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,893,949 (GRCm39) |
E487K |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,225,221 (GRCm39) |
T491A |
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,524,707 (GRCm39) |
V696M |
possibly damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,980 (GRCm39) |
G59D |
probably damaging |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Eno1b |
T |
A |
18: 48,180,907 (GRCm39) |
S362T |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
| Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 106,001,513 (GRCm39) |
T378A |
possibly damaging |
Het |
| Irf2bpl |
C |
A |
12: 86,929,691 (GRCm39) |
Q327H |
possibly damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,742,452 (GRCm39) |
|
probably benign |
Het |
| Kplce |
T |
C |
3: 92,775,898 (GRCm39) |
I262V |
possibly damaging |
Het |
| Lad1 |
T |
A |
1: 135,755,033 (GRCm39) |
V103D |
possibly damaging |
Het |
| Med15 |
C |
T |
16: 17,473,358 (GRCm39) |
R497H |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,014,163 (GRCm39) |
V177A |
possibly damaging |
Het |
| Mr1 |
T |
C |
1: 155,012,413 (GRCm39) |
E167G |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,951,053 (GRCm39) |
|
probably null |
Het |
| Myom2 |
A |
G |
8: 15,182,895 (GRCm39) |
D1444G |
probably benign |
Het |
| Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,115,243 (GRCm39) |
H479Q |
noncoding transcript |
Het |
| Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
| Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
| Pate10 |
T |
A |
9: 35,653,449 (GRCm39) |
Y84* |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,671 (GRCm39) |
I202V |
probably benign |
Het |
| Rsf1 |
C |
CGGCGGCGGT |
7: 97,229,142 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,895,983 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,950 (GRCm39) |
K290E |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,496,250 (GRCm39) |
Y84C |
probably damaging |
Het |
| Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,369 (GRCm39) |
V746D |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,202,790 (GRCm39) |
V1120A |
possibly damaging |
Het |
| Zbtb38 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTCTTC |
9: 96,568,155 (GRCm39) |
|
probably benign |
Het |
| Zfp791 |
T |
C |
8: 85,836,295 (GRCm39) |
H523R |
probably null |
Het |
| Zfp870 |
A |
G |
17: 33,104,710 (GRCm39) |
I53T |
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 |
|
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 |
|
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'- GTGGGAATCTAAATATCACCCATCT -3'
(R):5'- AGTGTCTCAACTAAGAAGATGGTAT -3'
Sequencing Primer
(F):5'- GCATAGAGGATAGCTATCTTCCCAG -3'
(R):5'- AGAAGATGGTATTTTTCTCTTGTCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation