Incidental Mutation 'R1726:Mcm9'
ID |
198149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcm9
|
Ensembl Gene |
ENSMUSG00000058298 |
Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
Synonyms |
9030408O17Rik, Mcmdc1 |
MMRRC Submission |
039758-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 53413977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 368
(P368S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219547]
[ENSMUST00000220007]
|
AlphaFold |
Q2KHI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075540
AA Change: P1106S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000074978 Gene: ENSMUSG00000058298 AA Change: P1106S
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 |
possibly damaging
Transcript: ENSMUST00000219547
AA Change: P368S
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220007
AA Change: P368S
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.2202 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
Validation Efficiency |
97% (63/65) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
C |
12: 118,838,536 (GRCm39) |
|
probably null |
Het |
Abcb5 |
A |
T |
12: 118,871,267 (GRCm39) |
S711T |
possibly damaging |
Het |
Acoxl |
G |
A |
2: 127,722,366 (GRCm39) |
G216R |
probably damaging |
Het |
Arhgef18 |
A |
T |
8: 3,504,228 (GRCm39) |
N949I |
possibly damaging |
Het |
Bltp3a |
C |
A |
17: 28,105,225 (GRCm39) |
|
probably null |
Het |
Brip1 |
A |
T |
11: 85,955,740 (GRCm39) |
S924R |
probably benign |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Ccdc141 |
A |
G |
2: 76,938,700 (GRCm39) |
|
probably benign |
Het |
Ccdc80 |
A |
T |
16: 44,916,368 (GRCm39) |
T375S |
probably benign |
Het |
Ccl11 |
A |
G |
11: 81,952,546 (GRCm39) |
K40E |
possibly damaging |
Het |
Chrnb2 |
A |
T |
3: 89,668,509 (GRCm39) |
C269S |
probably damaging |
Het |
Dgat2 |
A |
G |
7: 98,831,623 (GRCm39) |
S33P |
possibly damaging |
Het |
Dip2c |
A |
G |
13: 9,625,464 (GRCm39) |
D608G |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,388,715 (GRCm39) |
D889E |
probably damaging |
Het |
Dvl2 |
A |
T |
11: 69,900,287 (GRCm39) |
T694S |
probably benign |
Het |
Elapor1 |
A |
G |
3: 108,375,184 (GRCm39) |
I561T |
possibly damaging |
Het |
Fbf1 |
A |
G |
11: 116,036,280 (GRCm39) |
V1100A |
probably benign |
Het |
Galt |
G |
A |
4: 41,756,001 (GRCm39) |
W22* |
probably null |
Het |
Garem1 |
C |
A |
18: 21,281,319 (GRCm39) |
V346L |
probably damaging |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Gm10762 |
A |
T |
2: 128,809,135 (GRCm39) |
|
probably benign |
Het |
Gm21900 |
A |
G |
Y: 10,616,358 (GRCm39) |
|
probably null |
Het |
Gm2663 |
T |
C |
6: 40,974,960 (GRCm39) |
Y37C |
probably damaging |
Het |
Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
Gm5134 |
C |
A |
10: 75,828,361 (GRCm39) |
P314T |
possibly damaging |
Het |
Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
H2-T24 |
T |
A |
17: 36,326,513 (GRCm39) |
M129L |
probably benign |
Het |
Ikzf2 |
C |
A |
1: 69,587,847 (GRCm39) |
R214L |
probably damaging |
Het |
Insyn2a |
T |
C |
7: 134,500,867 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
T |
A |
17: 27,330,664 (GRCm39) |
L1691Q |
probably damaging |
Het |
Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
Lrp10 |
T |
C |
14: 54,707,113 (GRCm39) |
L650P |
probably damaging |
Het |
Mob3b |
A |
G |
4: 34,954,028 (GRCm39) |
M214T |
probably benign |
Het |
Mrpl1 |
T |
C |
5: 96,371,686 (GRCm39) |
V71A |
probably benign |
Het |
Mrpl57 |
A |
G |
14: 58,064,092 (GRCm39) |
E40G |
probably damaging |
Het |
Mtmr9 |
A |
G |
14: 63,774,547 (GRCm39) |
V162A |
possibly damaging |
Het |
Nalcn |
A |
T |
14: 123,545,816 (GRCm39) |
V1065E |
probably damaging |
Het |
Nemp2 |
A |
G |
1: 52,676,554 (GRCm39) |
D42G |
probably damaging |
Het |
Npepps |
A |
G |
11: 97,115,495 (GRCm39) |
L623P |
probably damaging |
Het |
Olig3 |
A |
G |
10: 19,232,482 (GRCm39) |
S36G |
probably benign |
Het |
Or10j5 |
A |
G |
1: 172,784,658 (GRCm39) |
T99A |
probably benign |
Het |
Or11g26 |
T |
A |
14: 50,753,636 (GRCm39) |
|
probably null |
Het |
Or5e1 |
T |
C |
7: 108,354,215 (GRCm39) |
S51P |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,582,647 (GRCm39) |
Y584* |
probably null |
Het |
Pcyox1l |
T |
C |
18: 61,830,849 (GRCm39) |
Y341C |
probably benign |
Het |
Pdxdc1 |
A |
C |
16: 13,656,164 (GRCm39) |
|
probably null |
Het |
Pias4 |
A |
C |
10: 80,991,689 (GRCm39) |
V313G |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,783,150 (GRCm39) |
T81M |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,349,322 (GRCm39) |
I40M |
probably damaging |
Het |
Reep6 |
T |
C |
10: 80,170,954 (GRCm39) |
S277P |
probably benign |
Het |
Shank3 |
A |
G |
15: 89,442,189 (GRCm39) |
E1694G |
probably damaging |
Het |
Shq1 |
T |
C |
6: 100,613,996 (GRCm39) |
Y274C |
probably benign |
Het |
Slc12a6 |
T |
A |
2: 112,177,771 (GRCm39) |
I630N |
probably damaging |
Het |
Slc14a1 |
T |
A |
18: 78,159,681 (GRCm39) |
N15Y |
probably benign |
Het |
Slc17a4 |
A |
T |
13: 24,089,574 (GRCm39) |
Y114* |
probably null |
Het |
Slc26a1 |
C |
T |
5: 108,821,541 (GRCm39) |
G116D |
probably damaging |
Het |
Smg8 |
G |
T |
11: 86,971,439 (GRCm39) |
Y777* |
probably null |
Het |
Tlr11 |
A |
T |
14: 50,598,998 (GRCm39) |
H328L |
probably benign |
Het |
Ube2c |
G |
T |
2: 164,613,237 (GRCm39) |
A52S |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,523,864 (GRCm39) |
S806G |
probably damaging |
Het |
Zfp874b |
A |
T |
13: 67,622,839 (GRCm39) |
I153K |
probably damaging |
Het |
Zkscan2 |
T |
A |
7: 123,089,046 (GRCm39) |
E408D |
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 |
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 |
|
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'- TGCTTTTATTACCGCAGGAAACCCC -3'
(R):5'- AGCCTGAACCTGAAGGTATGGAGAC -3'
Sequencing Primer
(F):5'- TTCTCACAGGCTAGATGCGAATG -3'
(R):5'- CCTGAAGGTATGGAGACTCCAAC -3'
|
Posted On |
2014-05-23 |