Incidental Mutation 'R1573:Mcm9'
| ID |
170972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
039612-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1573 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53424752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 613
(T613A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219547]
[ENSMUST00000220007]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075540
AA Change: T613A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: T613A
| 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 benign
Transcript: ENSMUST00000219547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220260
|
| Meta Mutation Damage Score |
0.1789 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.1%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,004,445 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
G |
5: 34,758,740 (GRCm39) |
A18G |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,910,113 (GRCm39) |
K198E |
possibly damaging |
Het |
| Angptl1 |
T |
A |
1: 156,684,740 (GRCm39) |
L303Q |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,348,186 (GRCm39) |
I635L |
probably benign |
Het |
| Atp5mk |
T |
A |
19: 47,074,634 (GRCm39) |
Q9L |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 60,097,655 (GRCm39) |
T791K |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,469,325 (GRCm39) |
K664R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,685 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
C |
A |
15: 80,277,869 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,625 (GRCm39) |
F1077L |
probably damaging |
Het |
| Camkk1 |
C |
T |
11: 72,918,307 (GRCm39) |
R52C |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,403,958 (GRCm39) |
V60E |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbr2 |
A |
T |
11: 120,622,791 (GRCm39) |
L3Q |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,586,434 (GRCm39) |
D920E |
unknown |
Het |
| Cdc20b |
A |
G |
13: 113,192,478 (GRCm39) |
N57S |
probably benign |
Het |
| Cep83 |
G |
A |
10: 94,624,525 (GRCm39) |
E601K |
probably damaging |
Het |
| Cldn10 |
A |
T |
14: 119,111,080 (GRCm39) |
I176L |
probably benign |
Het |
| Cpeb2 |
T |
C |
5: 43,441,273 (GRCm39) |
|
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,265,344 (GRCm39) |
S25P |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,039,684 (GRCm39) |
Y319F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,240,312 (GRCm39) |
S1561F |
probably damaging |
Het |
| Dxo |
C |
T |
17: 35,057,270 (GRCm39) |
R221C |
probably damaging |
Het |
| Dynlt4 |
A |
T |
4: 116,985,191 (GRCm39) |
T5S |
probably benign |
Het |
| Epc2 |
A |
G |
2: 49,439,984 (GRCm39) |
T801A |
possibly damaging |
Het |
| Fndc3a |
C |
A |
14: 72,806,384 (GRCm39) |
C373F |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,283,932 (GRCm39) |
S918P |
probably benign |
Het |
| Fuca2 |
A |
G |
10: 13,381,587 (GRCm39) |
T84A |
possibly damaging |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,979,051 (GRCm39) |
N21K |
probably benign |
Het |
| Htt |
T |
C |
5: 35,021,718 (GRCm39) |
|
probably benign |
Het |
| Igsf1 |
T |
C |
X: 48,880,863 (GRCm39) |
R251G |
possibly damaging |
Het |
| Itih4 |
A |
T |
14: 30,619,504 (GRCm39) |
H720L |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,663,073 (GRCm39) |
L705* |
probably null |
Het |
| Krt34 |
A |
T |
11: 99,931,854 (GRCm39) |
S122T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,517 (GRCm39) |
T571A |
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,886,210 (GRCm39) |
T248A |
possibly damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,629 (GRCm39) |
H133Q |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,134,607 (GRCm39) |
T1808S |
probably benign |
Het |
| Meaf6 |
A |
G |
4: 124,983,931 (GRCm39) |
I111V |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,296,845 (GRCm39) |
P2730S |
possibly damaging |
Het |
| Mlc1 |
A |
C |
15: 88,842,350 (GRCm39) |
C337G |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,482 (GRCm39) |
Y572N |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,070,967 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,196 (GRCm39) |
M72K |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,979,068 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,064 (GRCm39) |
D69V |
probably damaging |
Het |
| Or5ak4 |
A |
T |
2: 85,161,687 (GRCm39) |
L185H |
probably damaging |
Het |
| Or6c6c |
T |
C |
10: 129,541,487 (GRCm39) |
S247P |
probably damaging |
Het |
| Padi4 |
T |
G |
4: 140,484,881 (GRCm39) |
T327P |
possibly damaging |
Het |
| Pga5 |
T |
A |
19: 10,651,201 (GRCm39) |
I151F |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Prokr2 |
T |
A |
2: 132,215,684 (GRCm39) |
Q259L |
probably damaging |
Het |
| Ptbp2 |
C |
A |
3: 119,546,754 (GRCm39) |
D43Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ralgps2 |
C |
T |
1: 156,660,500 (GRCm39) |
R237Q |
possibly damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,671,624 (GRCm39) |
|
probably null |
Het |
| Saa2 |
T |
A |
7: 46,401,716 (GRCm39) |
M1K |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,426 (GRCm39) |
I612V |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,442,692 (GRCm39) |
V1518I |
probably benign |
Het |
| Serpina6 |
T |
C |
12: 103,618,012 (GRCm39) |
D267G |
probably damaging |
Het |
| Sh2d4b |
A |
G |
14: 40,564,329 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,718,034 (GRCm39) |
V505A |
probably benign |
Het |
| Smad2 |
A |
G |
18: 76,395,657 (GRCm39) |
E32G |
possibly damaging |
Het |
| Smn1 |
T |
G |
13: 100,263,118 (GRCm39) |
D32E |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,883 (GRCm39) |
S142P |
possibly damaging |
Het |
| Stk39 |
A |
T |
2: 68,221,293 (GRCm39) |
I210N |
probably damaging |
Het |
| Tcte2 |
A |
G |
17: 13,937,899 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
| Tenm2 |
A |
T |
11: 35,937,896 (GRCm39) |
H1592Q |
probably damaging |
Het |
| Tescl |
A |
G |
7: 24,032,668 (GRCm39) |
V219A |
probably damaging |
Het |
| Tgm6 |
C |
T |
2: 129,993,660 (GRCm39) |
S633L |
probably benign |
Het |
| Tmcc1 |
C |
T |
6: 116,110,924 (GRCm39) |
S123N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ulk2 |
G |
A |
11: 61,670,581 (GRCm39) |
R992C |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,332,184 (GRCm39) |
H278Y |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,275,121 (GRCm39) |
R373W |
probably damaging |
Het |
| Zfp24 |
A |
T |
18: 24,150,399 (GRCm39) |
D170E |
possibly damaging |
Het |
| Zfp808 |
T |
C |
13: 62,319,311 (GRCm39) |
I180T |
possibly damaging |
Het |
| Zfp820 |
T |
A |
17: 22,037,737 (GRCm39) |
Q530H |
probably benign |
Het |
| Zfp975 |
A |
T |
7: 42,311,507 (GRCm39) |
Y369N |
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 |
|
|
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 |
|
|
|
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'- GCTATGACTCTGTAGCCCATACCTGG -3'
(R):5'- TGAACTTGTTGTTTGTGGAACCCTCTC -3'
Sequencing Primer
(F):5'- GTCTAAGCATCTATTACCTGTCAAC -3'
(R):5'- GTTTGTGGAACCCTCTCCTATC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation