Incidental Mutation 'R8494:Mcm9'
| ID |
658190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
067936-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53501856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 243
(T243M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219838]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075540
AA Change: T243M
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: T243M
| 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 |
probably benign
Transcript: ENSMUST00000219838
AA Change: T243M
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,327,821 (GRCm39) |
M1420L |
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,038,708 (GRCm39) |
H934L |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,240,221 (GRCm39) |
C661R |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,376,455 (GRCm39) |
D629G |
probably benign |
Het |
| Anapc16 |
A |
T |
10: 59,832,340 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
C |
1: 72,697,953 (GRCm39) |
I758V |
probably benign |
Het |
| Apc2 |
G |
T |
10: 80,150,313 (GRCm39) |
R1760L |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,115 (GRCm39) |
T83A |
probably benign |
Het |
| Canx |
T |
A |
11: 50,202,609 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
A |
16: 52,025,003 (GRCm39) |
I966K |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,144,788 (GRCm39) |
Q1444L |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,759,312 (GRCm39) |
P1781S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,345,977 (GRCm39) |
N2439T |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,673,271 (GRCm39) |
Y981N |
probably benign |
Het |
| Esrp2 |
C |
T |
8: 106,861,350 (GRCm39) |
V150M |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,982,252 (GRCm39) |
F235V |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,519,164 (GRCm39) |
Y125* |
probably null |
Het |
| Gm1110 |
T |
A |
9: 26,792,154 (GRCm39) |
D622V |
probably benign |
Het |
| Gpcpd1 |
A |
G |
2: 132,386,355 (GRCm39) |
V341A |
probably damaging |
Het |
| Gpx3 |
G |
A |
11: 54,793,846 (GRCm39) |
V19I |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,347,810 (GRCm39) |
I160M |
probably damaging |
Het |
| Igkv3-4 |
G |
T |
6: 70,649,147 (GRCm39) |
V49F |
probably damaging |
Het |
| Kcng1 |
A |
G |
2: 168,105,018 (GRCm39) |
V276A |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,145 (GRCm39) |
V364D |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,902,341 (GRCm39) |
I182V |
probably benign |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Micall1 |
T |
C |
15: 79,005,080 (GRCm39) |
L184P |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,133,593 (GRCm39) |
C217S |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,377,546 (GRCm39) |
D469G |
probably damaging |
Het |
| Mst1r |
T |
G |
9: 107,791,718 (GRCm39) |
W799G |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,362,291 (GRCm39) |
V950I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,871 (GRCm39) |
D1296G |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,880 (GRCm39) |
M298K |
probably null |
Het |
| Parg |
T |
A |
14: 31,930,978 (GRCm39) |
H199Q |
probably benign |
Het |
| Pcnx3 |
C |
A |
19: 5,725,404 (GRCm39) |
D1170Y |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,250,144 (GRCm39) |
V487E |
probably damaging |
Het |
| Selp |
T |
G |
1: 163,957,835 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
T |
C |
8: 106,981,982 (GRCm39) |
E626G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,265 (GRCm39) |
L188P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,241 (GRCm39) |
I543V |
possibly damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,779 (GRCm39) |
*245W |
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,383,506 (GRCm39) |
R1336G |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,422,594 (GRCm39) |
W185R |
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 |
|
|
R8137:Mcm9
|
UTSW |
10 |
53,499,076 (GRCm39) |
missense |
|
|
|
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 |
|
| Posted On |
2021-01-18 |
Incidental Mutation