Incidental Mutation 'R3936:Mcm2'
| ID |
307169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm2
|
| Ensembl Gene |
ENSMUSG00000002870 |
| Gene Name |
minichromosome maintenance complex component 2 |
| Synonyms |
BM28, CDCL1, Mcmd2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
88860456-88875762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88869990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 60
(R60C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058011]
[ENSMUST00000205165]
|
| AlphaFold |
P97310 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058011
AA Change: R204C
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000061923
Gene: ENSMUSG00000002870
AA Change: R204C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:MCM2_N
|
50 |
182 |
3.5e-20 |
PFAM |
|
MCM
|
290 |
803 |
N/A |
SMART |
|
Blast:MCM
|
816 |
891 |
3e-38 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204393
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205165
AA Change: R60C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145295
Gene: ENSMUSG00000002870
AA Change: R60C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
32 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1633 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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 involved in 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. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for non functional alleles at this locus die prematurely. There is an increased tumor incidence and abnormalities in a variety of systems in mice as they become moribund. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
probably benign |
Het |
|
| Other mutations in Mcm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Mcm2
|
APN |
6 |
88,870,383 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01082:Mcm2
|
APN |
6 |
88,864,859 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01451:Mcm2
|
APN |
6 |
88,868,948 (GRCm39) |
splice site |
probably benign |
|
|
IGL01534:Mcm2
|
APN |
6 |
88,864,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01670:Mcm2
|
APN |
6 |
88,864,614 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01724:Mcm2
|
APN |
6 |
88,863,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01936:Mcm2
|
APN |
6 |
88,868,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Mcm2
|
APN |
6 |
88,865,218 (GRCm39) |
nonsense |
probably null |
|
|
dander
|
UTSW |
6 |
88,864,786 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
spores
|
UTSW |
6 |
88,874,432 (GRCm39) |
missense |
probably benign |
|
|
R0254:Mcm2
|
UTSW |
6 |
88,860,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1673:Mcm2
|
UTSW |
6 |
88,869,060 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1740:Mcm2
|
UTSW |
6 |
88,861,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Mcm2
|
UTSW |
6 |
88,866,770 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1917:Mcm2
|
UTSW |
6 |
88,868,785 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2250:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2307:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2308:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2309:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2379:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3431:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3432:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3878:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3911:Mcm2
|
UTSW |
6 |
88,865,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3934:Mcm2
|
UTSW |
6 |
88,869,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4640:Mcm2
|
UTSW |
6 |
88,864,786 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4749:Mcm2
|
UTSW |
6 |
88,868,973 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5267:Mcm2
|
UTSW |
6 |
88,874,432 (GRCm39) |
missense |
probably benign |
|
|
R5701:Mcm2
|
UTSW |
6 |
88,870,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Mcm2
|
UTSW |
6 |
88,861,053 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6118:Mcm2
|
UTSW |
6 |
88,864,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Mcm2
|
UTSW |
6 |
88,866,891 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6207:Mcm2
|
UTSW |
6 |
88,862,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6550:Mcm2
|
UTSW |
6 |
88,863,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7184:Mcm2
|
UTSW |
6 |
88,868,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Mcm2
|
UTSW |
6 |
88,864,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Mcm2
|
UTSW |
6 |
88,869,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8215:Mcm2
|
UTSW |
6 |
88,874,293 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9121:Mcm2
|
UTSW |
6 |
88,861,019 (GRCm39) |
missense |
probably benign |
|
|
R9745:Mcm2
|
UTSW |
6 |
88,868,729 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTGAGTTCAGTGCGGCAC -3'
(R):5'- TTGCTACCCAAGACAGCAGC -3'
Sequencing Primer
(F):5'- GCCAGCAGGATACAGAAGCC -3'
(R):5'- CCAAGACAGCAGCGAGGAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation