Incidental Mutation 'R8137:Mcm9'
| ID |
632310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
067565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53499076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 216
(T216A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219838]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075540
AA Change: T289A
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: T289A
| 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: T289A
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.8%
- 20x: 96.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfn1 |
T |
G |
11: 89,344,003 (GRCm39) |
Q326H |
probably benign |
Het |
| Carf |
G |
A |
1: 60,187,124 (GRCm39) |
V576I |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,865,291 (GRCm39) |
D87N |
possibly damaging |
Het |
| Cgref1 |
T |
A |
5: 31,091,749 (GRCm39) |
D111V |
possibly damaging |
Het |
| Cnot4 |
G |
A |
6: 35,023,222 (GRCm39) |
P567S |
unknown |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,765 (GRCm39) |
D149E |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,511,783 (GRCm39) |
D877E |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,654,808 (GRCm39) |
I1032N |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,272,913 (GRCm39) |
Y2347C |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,041 (GRCm39) |
S63P |
possibly damaging |
Het |
| Dyrk2 |
C |
T |
10: 118,695,789 (GRCm39) |
E490K |
probably benign |
Het |
| Fcgbp |
A |
C |
7: 27,804,496 (GRCm39) |
Y1868S |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,768 (GRCm39) |
H355R |
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,055 (GRCm39) |
V145A |
possibly damaging |
Het |
| Gm14137 |
A |
T |
2: 119,005,837 (GRCm39) |
E132V |
probably benign |
Het |
| Gpn2 |
T |
C |
4: 133,315,873 (GRCm39) |
S211P |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,474,357 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Gspt1 |
A |
G |
16: 11,058,532 (GRCm39) |
V144A |
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,589,188 (GRCm39) |
I81T |
possibly damaging |
Het |
| Il27ra |
T |
A |
8: 84,767,720 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
C |
15: 90,852,645 (GRCm39) |
T862A |
probably benign |
Het |
| Klf2 |
T |
C |
8: 73,074,088 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,952 (GRCm39) |
Y1505C |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,972 (GRCm39) |
E3107G |
unknown |
Het |
| Ncor2 |
C |
T |
5: 125,114,957 (GRCm39) |
V169I |
|
Het |
| Oas3 |
T |
C |
5: 120,915,565 (GRCm39) |
Q42R |
probably benign |
Het |
| Or2l5 |
A |
G |
16: 19,333,846 (GRCm39) |
V180A |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,013 (GRCm39) |
*309W |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,193,647 (GRCm39) |
Y693C |
possibly damaging |
Het |
| Pde11a |
T |
C |
2: 76,041,383 (GRCm39) |
E429G |
possibly damaging |
Het |
| Pramel23 |
A |
G |
4: 143,425,835 (GRCm39) |
F36S |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,852,140 (GRCm39) |
H109R |
probably damaging |
Het |
| Rbsn |
A |
T |
6: 92,167,003 (GRCm39) |
V547D |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,001,933 (GRCm39) |
I1084T |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,796,378 (GRCm39) |
D1801G |
probably benign |
Het |
| Slco4c1 |
C |
T |
1: 96,748,970 (GRCm39) |
G649E |
probably damaging |
Het |
| Spmip10 |
A |
G |
18: 56,727,653 (GRCm39) |
D117G |
probably damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,787,431 (GRCm39) |
I914F |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Strc |
C |
T |
2: 121,197,219 (GRCm39) |
G1503R |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,225,171 (GRCm39) |
Y46F |
probably damaging |
Het |
| Tctn3 |
A |
T |
19: 40,593,785 (GRCm39) |
W462R |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,109,525 (GRCm39) |
D857G |
probably benign |
Het |
| Tor1aip2 |
C |
T |
1: 155,939,414 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
| Vezt |
T |
C |
10: 93,775,154 (GRCm39) |
N94D |
|
Het |
| Vmn2r105 |
T |
C |
17: 20,454,966 (GRCm39) |
N57D |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,212,011 (GRCm39) |
D353G |
|
Het |
| Ykt6 |
T |
C |
11: 5,909,368 (GRCm39) |
V59A |
probably damaging |
Het |
| Ypel3 |
T |
G |
7: 126,377,269 (GRCm39) |
V54G |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,268 (GRCm39) |
C329S |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,821,156 (GRCm39) |
L232H |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,081,110 (GRCm39) |
H423R |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,740,861 (GRCm39) |
Y468C |
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 |
|
R7697:Mcm9
|
UTSW |
10 |
53,491,990 (GRCm39) |
missense |
|
|
|
R7997:Mcm9
|
UTSW |
10 |
53,473,502 (GRCm39) |
start gained |
probably benign |
|
|
R8136:Mcm9
|
UTSW |
10 |
53,487,439 (GRCm39) |
makesense |
probably null |
|
|
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'- TAATCCCGACATCTGGCTGG -3'
(R):5'- TTAAGACATAAACATTCCTCCCCTG -3'
Sequencing Primer
(F):5'- TCTGGCTGGAGATGAAGACAAGTC -3'
(R):5'- AAACATTCCTCCCCTGAAATATTAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation