Incidental Mutation 'R7697:Mcm9'
| ID |
593722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7697 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 53491990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 392
(F392V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219838]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075540
AA Change: F444V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: F444V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
111 |
N/A |
INTRINSIC |
|
MCM
|
268 |
761 |
9.44e-116 |
SMART |
|
AAA
|
500 |
649 |
2.43e-6 |
SMART |
|
coiled coil region
|
789 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
1004 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1045 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1199 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1219 |
1232 |
N/A |
INTRINSIC |
|
low complexity region
|
1246 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219838
AA Change: F444V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219841
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
T |
C |
14: 54,500,216 (GRCm39) |
V87A |
probably damaging |
Het |
| Acadsb |
A |
G |
7: 131,031,698 (GRCm39) |
E178G |
probably damaging |
Het |
| Acoxl |
A |
G |
2: 127,820,702 (GRCm39) |
T365A |
probably benign |
Het |
| Adcy8 |
T |
G |
15: 64,618,850 (GRCm39) |
I768L |
probably benign |
Het |
| Bloc1s4 |
A |
G |
5: 36,905,959 (GRCm39) |
S11P |
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,095,496 (GRCm39) |
I122V |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,847,601 (GRCm39) |
D673G |
probably benign |
Het |
| Cbx8 |
C |
A |
11: 118,931,637 (GRCm39) |
E14* |
probably null |
Het |
| Cep295 |
T |
A |
9: 15,266,006 (GRCm39) |
M49L |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,669,765 (GRCm39) |
N273D |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,185,127 (GRCm39) |
V663E |
probably damaging |
Het |
| Cntn3 |
C |
T |
6: 102,185,128 (GRCm39) |
V663M |
probably damaging |
Het |
| Cspg5 |
G |
C |
9: 110,085,294 (GRCm39) |
R488S |
probably damaging |
Het |
| Csrnp2 |
A |
T |
15: 100,385,953 (GRCm39) |
M95K |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,566,657 (GRCm39) |
V136E |
|
Het |
| Drg2 |
T |
A |
11: 60,353,003 (GRCm39) |
I212N |
probably damaging |
Het |
| Egfem1 |
T |
C |
3: 29,744,346 (GRCm39) |
|
probably null |
Het |
| Eif1ad18 |
T |
C |
12: 88,050,749 (GRCm39) |
Y95H |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,102,750 (GRCm39) |
D402V |
probably damaging |
Het |
| Fanci |
T |
A |
7: 79,056,040 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
T |
A |
10: 93,881,306 (GRCm39) |
V720D |
probably damaging |
Het |
| Fhod1 |
T |
A |
8: 106,074,563 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,456,516 (GRCm39) |
I2238N |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,488,892 (GRCm39) |
E79G |
probably damaging |
Het |
| Gabrr2 |
A |
T |
4: 33,071,358 (GRCm39) |
Y66F |
probably benign |
Het |
| Ggnbp1 |
T |
G |
17: 27,249,736 (GRCm39) |
I192S |
probably benign |
Het |
| Gm32742 |
C |
T |
9: 51,058,901 (GRCm39) |
V1039I |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,482,121 (GRCm39) |
L11P |
probably damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,263,208 (GRCm39) |
Y25C |
probably damaging |
Het |
| Ildr2 |
C |
A |
1: 166,122,300 (GRCm39) |
Q248K |
probably benign |
Het |
| Klrb1c |
T |
C |
6: 128,757,273 (GRCm39) |
H264R |
probably benign |
Het |
| Lrp11 |
C |
T |
10: 7,479,983 (GRCm39) |
A346V |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,711 (GRCm39) |
P1319L |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,148,078 (GRCm39) |
A965V |
probably damaging |
Het |
| Mrps7 |
A |
G |
11: 115,495,701 (GRCm39) |
T80A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,624,765 (GRCm39) |
Y2125* |
probably null |
Het |
| Myoc |
A |
G |
1: 162,475,049 (GRCm39) |
E200G |
probably damaging |
Het |
| Natd1 |
A |
G |
11: 60,797,808 (GRCm39) |
V39A |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,789,159 (GRCm39) |
T486I |
probably damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,645 (GRCm39) |
Y261C |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,157 (GRCm39) |
Q98R |
probably damaging |
Het |
| Or2c1 |
G |
A |
16: 3,657,430 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,162 (GRCm39) |
H193L |
probably benign |
Het |
| Pdss2 |
T |
A |
10: 43,221,544 (GRCm39) |
I152N |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,065,885 (GRCm39) |
E1395G |
unknown |
Het |
| Polr2b |
T |
C |
5: 77,468,059 (GRCm39) |
Y120H |
probably damaging |
Het |
| Pyroxd2 |
C |
T |
19: 42,735,805 (GRCm39) |
C99Y |
probably benign |
Het |
| Rela |
T |
C |
19: 5,691,630 (GRCm39) |
V268A |
probably damaging |
Het |
| Rgs3 |
C |
T |
4: 62,575,379 (GRCm39) |
P589S |
probably benign |
Het |
| Rtn1 |
A |
G |
12: 72,455,151 (GRCm39) |
S59P |
probably benign |
Het |
| Siae |
A |
G |
9: 37,544,950 (GRCm39) |
Y315C |
probably damaging |
Het |
| Susd3 |
C |
A |
13: 49,391,074 (GRCm39) |
W147L |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,702,047 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,728,030 (GRCm39) |
Y131C |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,677,104 (GRCm39) |
P2011L |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,316,990 (GRCm39) |
E1853G |
possibly damaging |
Het |
| Wls |
C |
A |
3: 159,616,955 (GRCm39) |
H331Q |
probably benign |
Het |
| Xkr6 |
C |
A |
14: 63,844,628 (GRCm39) |
P217Q |
probably damaging |
Het |
|
| Other mutations in Mcm9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:Mcm9
|
APN |
10 |
53,499,069 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00904:Mcm9
|
APN |
10 |
53,499,017 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00943:Mcm9
|
APN |
10 |
53,424,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01019:Mcm9
|
APN |
10 |
53,506,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Mcm9
|
APN |
10 |
53,417,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02481:Mcm9
|
APN |
10 |
53,502,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Mcm9
|
APN |
10 |
53,501,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03300:Mcm9
|
APN |
10 |
53,487,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Mcm9
|
UTSW |
10 |
53,413,997 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0117:Mcm9
|
UTSW |
10 |
53,413,832 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0137:Mcm9
|
UTSW |
10 |
53,439,526 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0420:Mcm9
|
UTSW |
10 |
53,424,623 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0499:Mcm9
|
UTSW |
10 |
53,414,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0543:Mcm9
|
UTSW |
10 |
53,417,694 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0947:Mcm9
|
UTSW |
10 |
53,413,597 (GRCm39) |
small deletion |
probably benign |
|
|
R0975:Mcm9
|
UTSW |
10 |
53,414,742 (GRCm39) |
nonsense |
probably null |
|
|
R1573:Mcm9
|
UTSW |
10 |
53,424,752 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1726:Mcm9
|
UTSW |
10 |
53,413,977 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1839:Mcm9
|
UTSW |
10 |
53,417,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2050:Mcm9
|
UTSW |
10 |
53,488,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2113:Mcm9
|
UTSW |
10 |
53,491,943 (GRCm39) |
splice site |
probably null |
|
|
R2172:Mcm9
|
UTSW |
10 |
53,424,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Mcm9
|
UTSW |
10 |
53,413,503 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3755:Mcm9
|
UTSW |
10 |
53,502,048 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3787:Mcm9
|
UTSW |
10 |
53,492,076 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3789:Mcm9
|
UTSW |
10 |
53,492,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Mcm9
|
UTSW |
10 |
53,439,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Mcm9
|
UTSW |
10 |
53,423,668 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4358:Mcm9
|
UTSW |
10 |
53,413,749 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4660:Mcm9
|
UTSW |
10 |
53,424,623 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4662:Mcm9
|
UTSW |
10 |
53,424,623 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5082:Mcm9
|
UTSW |
10 |
53,414,156 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5130:Mcm9
|
UTSW |
10 |
53,506,495 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5193:Mcm9
|
UTSW |
10 |
53,492,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5238:Mcm9
|
UTSW |
10 |
53,506,093 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5317:Mcm9
|
UTSW |
10 |
53,414,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Mcm9
|
UTSW |
10 |
53,414,788 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5524:Mcm9
|
UTSW |
10 |
53,424,786 (GRCm39) |
nonsense |
probably null |
|
|
R5593:Mcm9
|
UTSW |
10 |
53,414,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5748:Mcm9
|
UTSW |
10 |
53,501,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Mcm9
|
UTSW |
10 |
53,492,073 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6299:Mcm9
|
UTSW |
10 |
53,413,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6344:Mcm9
|
UTSW |
10 |
53,414,033 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6502:Mcm9
|
UTSW |
10 |
53,488,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Mcm9
|
UTSW |
10 |
53,439,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Mcm9
|
UTSW |
10 |
53,492,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Mcm9
|
UTSW |
10 |
53,496,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6963:Mcm9
|
UTSW |
10 |
53,424,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Mcm9
|
UTSW |
10 |
53,496,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7114:Mcm9
|
UTSW |
10 |
53,414,669 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7200:Mcm9
|
UTSW |
10 |
53,492,019 (GRCm39) |
missense |
|
|
|
R7593:Mcm9
|
UTSW |
10 |
53,506,088 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7671:Mcm9
|
UTSW |
10 |
53,413,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7997:Mcm9
|
UTSW |
10 |
53,473,502 (GRCm39) |
start gained |
probably benign |
|
|
R8136:Mcm9
|
UTSW |
10 |
53,487,439 (GRCm39) |
makesense |
probably null |
|
|
R8137:Mcm9
|
UTSW |
10 |
53,499,076 (GRCm39) |
missense |
|
|
|
R8494:Mcm9
|
UTSW |
10 |
53,501,856 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8526:Mcm9
|
UTSW |
10 |
53,506,221 (GRCm39) |
unclassified |
probably benign |
|
|
R8558:Mcm9
|
UTSW |
10 |
53,492,068 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8703:Mcm9
|
UTSW |
10 |
53,506,073 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8836:Mcm9
|
UTSW |
10 |
53,502,130 (GRCm39) |
missense |
|
|
|
R8994:Mcm9
|
UTSW |
10 |
53,424,620 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9150:Mcm9
|
UTSW |
10 |
53,502,110 (GRCm39) |
missense |
|
|
|
R9564:Mcm9
|
UTSW |
10 |
53,506,104 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Mcm9
|
UTSW |
10 |
53,505,884 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Mcm9
|
UTSW |
10 |
53,413,603 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAATGCCAGAAACAGACTTG -3'
(R):5'- TGCCATCTCACTGTGCATG -3'
Sequencing Primer
(F):5'- TGCCAGAAACAGACTTGAAGATACTG -3'
(R):5'- GTGCATGATCTTCCTGCTGGAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation