Incidental Mutation 'R0022:Mcm7'
| ID |
212518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm7
|
| Ensembl Gene |
ENSMUSG00000029730 |
| Gene Name |
minichromosome maintenance complex component 7 |
| Synonyms |
mCDC47, Mcmd7 |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
54 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138162845-138170675 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 138162981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 390
(*390W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019638]
[ENSMUST00000110951]
[ENSMUST00000148879]
[ENSMUST00000153867]
[ENSMUST00000147920]
[ENSMUST00000155902]
[ENSMUST00000139983]
[ENSMUST00000132639]
[ENSMUST00000148094]
|
| AlphaFold |
Q61881 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000505
AA Change: *720W
|
| SMART Domains |
Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730
AA Change: *720W
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
48 |
132 |
1e-41 |
BLAST |
|
MCM
|
145 |
642 |
N/A |
SMART |
|
AAA
|
373 |
526 |
2.9e-4 |
SMART |
|
Blast:MCM
|
658 |
719 |
1e-32 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019638
|
| SMART Domains |
Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
JAB_MPN
|
37 |
170 |
9.73e-35 |
SMART |
|
Pfam:MitMem_reg
|
191 |
304 |
1.1e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110951
|
| SMART Domains |
Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494
| Domain | Start | End | E-Value | Type |
|---|
|
JAB_MPN
|
10 |
143 |
9.73e-35 |
SMART |
|
Pfam:MitMem_reg
|
163 |
279 |
2.6e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125316
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148879
AA Change: *390W
|
| SMART Domains |
Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730
AA Change: *390W
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
48 |
132 |
6e-44 |
BLAST |
|
MCM
|
145 |
389 |
1.77e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153867
|
| SMART Domains |
Protein: ENSMUSP00000121566
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_N
|
1 |
58 |
9.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155902
|
| SMART Domains |
Protein: ENSMUSP00000120243
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_N
|
1 |
58 |
5.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139983
|
| SMART Domains |
Protein: ENSMUSP00000121446
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_N
|
1 |
58 |
5.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132639
|
| SMART Domains |
Protein: ENSMUSP00000121554
Gene: ENSMUSG00000019494
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MitMem_reg
|
17 |
112 |
3.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148094
|
| SMART Domains |
Protein: ENSMUSP00000121344
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
1 |
25 |
4e-7 |
BLAST |
|
| Meta Mutation Damage Score |
0.8853 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
100% (68/68) |
| 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 the 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, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,587,485 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
G |
A |
3: 121,782,586 (GRCm39) |
V91I |
possibly damaging |
Het |
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,072,268 (GRCm39) |
D325V |
probably damaging |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Col5a2 |
G |
A |
1: 45,422,843 (GRCm39) |
R1125* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,903,092 (GRCm39) |
V2049E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,382 (GRCm39) |
I4V |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,507,675 (GRCm39) |
T138A |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,420 (GRCm39) |
S14P |
probably benign |
Het |
| Elavl3 |
C |
A |
9: 21,948,167 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,188,408 (GRCm39) |
I297N |
possibly damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,632,082 (GRCm39) |
N332Y |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,612 (GRCm39) |
T256A |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,716 (GRCm39) |
Y74F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,734,059 (GRCm39) |
|
probably null |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1a |
T |
G |
11: 71,014,207 (GRCm39) |
T348P |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Or4f53 |
A |
G |
2: 111,087,994 (GRCm39) |
Y178C |
probably benign |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,371,691 (GRCm39) |
A2568V |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Plekhb2 |
G |
A |
1: 34,905,320 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,047,479 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,109,006 (GRCm39) |
Y497H |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,627 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Strc |
A |
G |
2: 121,198,874 (GRCm39) |
L1391P |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,725,509 (GRCm39) |
V592M |
probably damaging |
Het |
| Top1 |
A |
C |
2: 160,544,719 (GRCm39) |
K278N |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,585,700 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,910,705 (GRCm39) |
I699T |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,491,860 (GRCm39) |
E119G |
possibly damaging |
Het |
|
| Other mutations in Mcm7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01649:Mcm7
|
APN |
5 |
138,167,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Mcm7
|
APN |
5 |
138,165,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02611:Mcm7
|
APN |
5 |
138,165,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Mcm7
|
UTSW |
5 |
138,168,653 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT1430001:Mcm7
|
UTSW |
5 |
138,165,708 (GRCm39) |
unclassified |
probably benign |
|
|
R1306:Mcm7
|
UTSW |
5 |
138,165,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Mcm7
|
UTSW |
5 |
138,168,637 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2132:Mcm7
|
UTSW |
5 |
138,167,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3719:Mcm7
|
UTSW |
5 |
138,164,976 (GRCm39) |
nonsense |
probably null |
|
|
R3781:Mcm7
|
UTSW |
5 |
138,162,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3782:Mcm7
|
UTSW |
5 |
138,162,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4724:Mcm7
|
UTSW |
5 |
138,167,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4882:Mcm7
|
UTSW |
5 |
138,164,173 (GRCm39) |
splice site |
probably null |
|
|
R5012:Mcm7
|
UTSW |
5 |
138,167,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5517:Mcm7
|
UTSW |
5 |
138,163,133 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5718:Mcm7
|
UTSW |
5 |
138,163,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7604:Mcm7
|
UTSW |
5 |
138,167,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8806:Mcm7
|
UTSW |
5 |
138,163,347 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9139:Mcm7
|
UTSW |
5 |
138,167,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Mcm7
|
UTSW |
5 |
138,166,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9421:Mcm7
|
UTSW |
5 |
138,165,477 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9681:Mcm7
|
UTSW |
5 |
138,164,220 (GRCm39) |
nonsense |
probably null |
|
|
R9707:Mcm7
|
UTSW |
5 |
138,170,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATCTCAAGAAACAGTGGTCCC -3'
(R):5'- TGTCTTTTAGGACCCAGAGGCCAG -3'
Sequencing Primer
(F):5'- TCCCAGATTGACTAGCACATAGTAAG -3'
(R):5'- AGATGTGATATTTGCCACCATCC -3'
|
| Posted On |
2014-07-08 |
Incidental Mutation