Incidental Mutation 'R6883:Mcm9'
| ID |
536904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
044978-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53492110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 352
(W352R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219838]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075540
AA Change: W404R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: W404R
| 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 |
probably damaging
Transcript: ENSMUST00000218549
AA Change: W352R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219838
AA Change: W404R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219841
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
92% (45/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
G |
9: 118,985,728 (GRCm39) |
S66P |
possibly damaging |
Het |
| Adh7 |
A |
T |
3: 137,929,825 (GRCm39) |
E167V |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,859,992 (GRCm39) |
S705P |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,063,739 (GRCm39) |
V329A |
probably benign |
Het |
| Btla |
C |
T |
16: 45,063,092 (GRCm39) |
H152Y |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,465,883 (GRCm38) |
E1009G |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,507 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
G |
T |
4: 115,159,221 (GRCm39) |
V164F |
probably damaging |
Het |
| Duox1 |
G |
T |
2: 122,155,065 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,260 (GRCm39) |
H1261L |
possibly damaging |
Het |
| Fmo6 |
A |
G |
1: 162,757,461 (GRCm39) |
I104T |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,576,172 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
C |
18: 21,262,769 (GRCm39) |
T682A |
probably benign |
Het |
| Gm49358 |
A |
G |
10: 86,651,762 (GRCm39) |
E188G |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,681,162 (GRCm39) |
I278T |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,409,756 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
A |
C |
1: 87,627,412 (GRCm39) |
K308T |
probably damaging |
Het |
| Irf6 |
A |
T |
1: 192,849,774 (GRCm39) |
Y232F |
probably damaging |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,248 (GRCm39) |
Q60R |
probably benign |
Het |
| Klri2 |
T |
C |
6: 129,709,985 (GRCm39) |
D205G |
probably benign |
Het |
| Nat8 |
A |
G |
6: 85,807,650 (GRCm39) |
V161A |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,556 (GRCm39) |
M742K |
probably benign |
Het |
| Or10ag58 |
C |
A |
2: 87,265,623 (GRCm39) |
T264K |
probably damaging |
Het |
| Or13j1 |
T |
C |
4: 43,705,723 (GRCm39) |
T282A |
possibly damaging |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,144,242 (GRCm39) |
D111V |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,198 (GRCm39) |
D373V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,560,396 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,983,453 (GRCm39) |
M52V |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,774,729 (GRCm39) |
E118G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,307 (GRCm39) |
S99G |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Sim2 |
G |
T |
16: 93,926,395 (GRCm39) |
A540S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,767,403 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,769,719 (GRCm39) |
V90A |
probably benign |
Het |
| Spns2 |
T |
C |
11: 72,347,196 (GRCm39) |
|
probably null |
Het |
| Syne1 |
G |
T |
10: 5,181,704 (GRCm39) |
C4210* |
probably null |
Het |
| Tek |
T |
C |
4: 94,725,426 (GRCm39) |
I564T |
possibly damaging |
Het |
| Tmem94 |
T |
G |
11: 115,687,287 (GRCm39) |
C1135W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,937,493 (GRCm39) |
D3827E |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,992 (GRCm39) |
D235G |
possibly damaging |
Het |
| Tuba4a |
A |
G |
1: 75,194,066 (GRCm39) |
S5P |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,777,173 (GRCm39) |
V518D |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,685,563 (GRCm39) |
Q2229L |
probably benign |
Het |
| Unkl |
C |
T |
17: 25,449,307 (GRCm39) |
A78V |
probably damaging |
Het |
| Uroc1 |
C |
T |
6: 90,315,574 (GRCm39) |
Q152* |
probably null |
Het |
| Vmn2r51 |
G |
T |
7: 9,834,025 (GRCm39) |
Q338K |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,498,513 (GRCm39) |
|
probably benign |
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 |
|
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'- TTAGGCCCTTCATCACCAAC -3'
(R):5'- CCCAGTAAAGGGCATTGTGTG -3'
Sequencing Primer
(F):5'- CCTGCAAAGGGGTCACTCTTATAG -3'
(R):5'- GTTGCTTTTTGAATGAACAGATGTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation