Incidental Mutation 'R5513:Mcm4'
| ID |
440196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm4
|
| Ensembl Gene |
ENSMUSG00000022673 |
| Gene Name |
minichromosome maintenance complex component 4 |
| Synonyms |
mCdc21, Mcmd4, 19G, Cdc21 |
| MMRRC Submission |
043073-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
15441761-15455264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15448378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 393
(Y393F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023353]
|
| AlphaFold |
P49717 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023353
AA Change: Y393F
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: Y393F
| 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 |
0.1312 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (59/61) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,539,623 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
A |
6: 34,293,581 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,015,060 (GRCm39) |
N434Y |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,982,983 (GRCm39) |
I648T |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,619,259 (GRCm39) |
E1510G |
probably benign |
Het |
| Ano2 |
A |
C |
6: 126,016,285 (GRCm39) |
K939N |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,249,273 (GRCm39) |
Y8C |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,410,136 (GRCm39) |
I2609F |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,208,601 (GRCm39) |
S964T |
probably benign |
Het |
| Cd22 |
C |
T |
7: 30,566,450 (GRCm39) |
R823Q |
probably damaging |
Het |
| Cd74 |
T |
C |
18: 60,944,377 (GRCm39) |
C196R |
probably damaging |
Het |
| Cfap73 |
A |
T |
5: 120,769,777 (GRCm39) |
I82N |
probably damaging |
Het |
| Cidec |
A |
T |
6: 113,405,140 (GRCm39) |
Y177N |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,164,559 (GRCm39) |
|
probably null |
Het |
| Cts7 |
T |
C |
13: 61,503,398 (GRCm39) |
K189E |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,691,850 (GRCm39) |
Y358N |
probably damaging |
Het |
| Dab2ip |
A |
T |
2: 35,600,266 (GRCm39) |
H294L |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,167,402 (GRCm39) |
D502G |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,971,890 (GRCm39) |
M2768K |
probably damaging |
Het |
| Etl4 |
C |
A |
2: 20,748,638 (GRCm39) |
S405R |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,781,252 (GRCm39) |
L19F |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,542 (GRCm39) |
N3758K |
possibly damaging |
Het |
| Fsip2 |
C |
G |
2: 82,781,256 (GRCm39) |
Q217E |
probably benign |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Hivep2 |
A |
T |
10: 14,008,417 (GRCm39) |
K1672* |
probably null |
Het |
| Igkv2-137 |
G |
A |
6: 67,532,998 (GRCm39) |
G54S |
possibly damaging |
Het |
| Ints8 |
A |
G |
4: 11,248,303 (GRCm39) |
V105A |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,633,850 (GRCm39) |
K774R |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,309,479 (GRCm39) |
L324P |
probably damaging |
Het |
| Or4d6 |
A |
G |
19: 12,086,745 (GRCm39) |
L55P |
probably damaging |
Het |
| Or52n3 |
A |
T |
7: 104,530,706 (GRCm39) |
H264L |
probably damaging |
Het |
| Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,102 (GRCm39) |
V158A |
probably benign |
Het |
| Pld4 |
A |
G |
12: 112,728,988 (GRCm39) |
E19G |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,173 (GRCm39) |
E63G |
probably damaging |
Het |
| Ppig |
A |
G |
2: 69,580,703 (GRCm39) |
T746A |
probably benign |
Het |
| Prdm2 |
GCTCCTCCTCCTCCTCCTCCTCCTC |
GCTCCTCCTCCTCCTCCTCCTC |
4: 142,862,463 (GRCm39) |
|
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,763,316 (GRCm39) |
L284P |
probably benign |
Het |
| Relch |
G |
A |
1: 105,678,698 (GRCm39) |
V1130I |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,222,668 (GRCm39) |
V239A |
probably damaging |
Het |
| Sae1 |
T |
C |
7: 16,100,781 (GRCm39) |
E197G |
probably benign |
Het |
| Sdhaf2 |
C |
T |
19: 10,494,394 (GRCm39) |
R105H |
probably damaging |
Het |
| Senp3 |
T |
C |
11: 69,567,965 (GRCm39) |
D425G |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,357,376 (GRCm39) |
F143S |
probably benign |
Het |
| Tom1 |
T |
A |
8: 75,783,848 (GRCm39) |
N52K |
probably damaging |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,617 (GRCm39) |
T94S |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,676,147 (GRCm39) |
I390T |
probably damaging |
Het |
| Zfp709 |
A |
T |
8: 72,643,900 (GRCm39) |
H443L |
probably damaging |
Het |
| Zfp960 |
C |
T |
17: 17,307,996 (GRCm39) |
P237S |
possibly damaging |
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 |
|
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 |
|
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'- ATCTGGCTTCCTGGAAAGTTC -3'
(R):5'- AGCTCATACAACACAGATGGTTAC -3'
Sequencing Primer
(F):5'- AGTTCCTTAAGCAATTTCACACG -3'
(R):5'- GGGTCTGTTCTTAAAAACCTGTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation