Incidental Mutation 'R5718:Mcm7'
| ID |
451271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm7
|
| Ensembl Gene |
ENSMUSG00000029730 |
| Gene Name |
minichromosome maintenance complex component 7 |
| Synonyms |
mCDC47, Mcmd7 |
| MMRRC Submission |
043338-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5718 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138162845-138170675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138163081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 357
(R357H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000505]
[ENSMUST00000019638]
[ENSMUST00000110951]
[ENSMUST00000148879]
[ENSMUST00000155902]
[ENSMUST00000132639]
[ENSMUST00000153867]
[ENSMUST00000147920]
[ENSMUST00000139983]
[ENSMUST00000148094]
|
| AlphaFold |
Q61881 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000505
AA Change: R687H
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730
AA Change: R687H
| 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 |
possibly damaging
Transcript: ENSMUST00000148879
AA Change: R357H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730
AA Change: R357H
| 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: ENSMUST00000154867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139223
|
| 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: 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: 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: 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: ENSMUST00000148094
|
| SMART Domains |
Protein: ENSMUSP00000121344
Gene: ENSMUSG00000029730
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
1 |
25 |
4e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
T |
C |
8: 27,603,514 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
G |
T |
1: 179,596,904 (GRCm39) |
H81N |
possibly damaging |
Het |
| Alyref2 |
T |
C |
1: 171,331,678 (GRCm39) |
S152P |
possibly damaging |
Het |
| Arhgef7 |
C |
T |
8: 11,835,774 (GRCm39) |
T20I |
probably damaging |
Het |
| Armc3 |
T |
G |
2: 19,308,610 (GRCm39) |
Y759* |
probably null |
Het |
| Atg5 |
A |
G |
10: 44,238,983 (GRCm39) |
S255G |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,665 (GRCm39) |
I1026V |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,107,009 (GRCm39) |
K770N |
probably damaging |
Het |
| Bptf |
G |
T |
11: 107,002,260 (GRCm39) |
A284E |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,300,674 (GRCm39) |
S815P |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,389 (GRCm39) |
H67R |
probably benign |
Het |
| Cic |
A |
G |
7: 24,972,203 (GRCm39) |
I645V |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,207,246 (GRCm39) |
Q48L |
probably benign |
Het |
| Crhr2 |
G |
A |
6: 55,069,085 (GRCm39) |
Q397* |
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 57,925,508 (GRCm39) |
V48I |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,404,955 (GRCm39) |
R2529H |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,787,826 (GRCm39) |
H3293L |
possibly damaging |
Het |
| Dock6 |
G |
T |
9: 21,735,789 (GRCm39) |
D986E |
probably benign |
Het |
| Efcab6 |
T |
A |
15: 83,788,439 (GRCm39) |
N952Y |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,029,618 (GRCm39) |
C1327Y |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,520,636 (GRCm39) |
E241G |
probably benign |
Het |
| Fsd1 |
T |
G |
17: 56,297,542 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,552 (GRCm39) |
S339P |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,088,172 (GRCm39) |
K829* |
probably null |
Het |
| Gli3 |
G |
A |
13: 15,652,750 (GRCm39) |
|
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,566,351 (GRCm39) |
C2217* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,485,417 (GRCm39) |
I4395N |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,273,909 (GRCm39) |
M861T |
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,412,621 (GRCm39) |
S1545P |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 72,136,998 (GRCm39) |
L725M |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,375,931 (GRCm39) |
C90* |
probably null |
Het |
| Mcoln2 |
T |
C |
3: 145,887,581 (GRCm39) |
S333P |
probably damaging |
Het |
| Mrpl22 |
A |
T |
11: 58,068,109 (GRCm39) |
I136L |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,386,702 (GRCm39) |
|
probably null |
Het |
| Ncdn |
G |
A |
4: 126,643,743 (GRCm39) |
Q360* |
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,771,403 (GRCm39) |
K338E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,927,634 (GRCm39) |
T6105A |
probably damaging |
Het |
| Or2aj6 |
G |
A |
16: 19,443,139 (GRCm39) |
S237F |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,338 (GRCm39) |
L226H |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,613,968 (GRCm39) |
F638I |
possibly damaging |
Het |
| Pfn3 |
T |
C |
13: 55,562,853 (GRCm39) |
I43V |
probably benign |
Het |
| Pigm |
C |
A |
1: 172,205,012 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
A |
15: 44,408,813 (GRCm39) |
S2433R |
probably damaging |
Het |
| Pomt1 |
C |
A |
2: 32,138,704 (GRCm39) |
A440D |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,288,613 (GRCm39) |
D691G |
probably benign |
Het |
| Qrich1 |
T |
A |
9: 108,406,022 (GRCm39) |
S72T |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,295,326 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
C |
15: 102,149,502 (GRCm39) |
S156A |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,783,954 (GRCm39) |
K133R |
probably benign |
Het |
| Rcor1 |
A |
G |
12: 111,068,069 (GRCm39) |
D158G |
probably benign |
Het |
| Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,217,987 (GRCm39) |
H450L |
probably damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,764,941 (GRCm39) |
I263V |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,960,957 (GRCm39) |
V242E |
probably benign |
Het |
| Slc5a5 |
T |
A |
8: 71,340,399 (GRCm39) |
T484S |
probably benign |
Het |
| Tdrd3 |
T |
C |
14: 87,743,876 (GRCm39) |
V608A |
probably benign |
Het |
| Thnsl1 |
C |
A |
2: 21,216,811 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,032,649 (GRCm39) |
H586Q |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,169,103 (GRCm39) |
A676T |
possibly damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xbp1 |
T |
A |
11: 5,471,903 (GRCm39) |
F10I |
probably benign |
Het |
| Zbtb1 |
G |
A |
12: 76,433,698 (GRCm39) |
M561I |
probably benign |
Het |
| Zfp708 |
T |
C |
13: 67,218,522 (GRCm39) |
K446E |
probably benign |
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 |
|
|
R0022:Mcm7
|
UTSW |
5 |
138,162,981 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
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'- GGCAATCAAAACACTTTATTGGCAG -3'
(R):5'- CACTGGGCTTATTGACCTGG -3'
Sequencing Primer
(F):5'- AGTGCAGCATGGGAGAATG -3'
(R):5'- GGCTTATTGACCTGGCTTGCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation