Incidental Mutation 'R0420:Mcm9'
| ID |
37001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
038622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0420 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53424623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 656
(I656V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219547]
[ENSMUST00000220007]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075540
AA Change: I656V
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: I656V
| 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 |
0.0743 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
| Validation Efficiency |
100% (76/76) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,991,050 (GRCm39) |
V870A |
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,453,614 (GRCm39) |
M144L |
probably benign |
Het |
| Adrb2 |
T |
A |
18: 62,312,610 (GRCm39) |
I72L |
possibly damaging |
Het |
| Ankrd53 |
A |
T |
6: 83,740,674 (GRCm39) |
H99L |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,891,280 (GRCm39) |
T17M |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,377,705 (GRCm39) |
|
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,680,052 (GRCm39) |
G884E |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,826 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
G |
T |
14: 60,011,193 (GRCm39) |
T971K |
probably damaging |
Het |
| BC048562 |
A |
T |
9: 108,323,165 (GRCm39) |
T167S |
probably benign |
Het |
| Brd9 |
A |
G |
13: 74,103,592 (GRCm39) |
M491V |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,814,277 (GRCm39) |
D319V |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,491,800 (GRCm38) |
R783S |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,557,581 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
T |
2: 152,912,782 (GRCm39) |
D107V |
probably null |
Het |
| Cep192 |
A |
G |
18: 67,946,964 (GRCm39) |
E213G |
possibly damaging |
Het |
| Cyp2c37 |
A |
C |
19: 39,984,238 (GRCm39) |
N242T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,930,765 (GRCm39) |
V3750A |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,836 (GRCm39) |
I231L |
probably benign |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,031,861 (GRCm39) |
N254S |
possibly damaging |
Het |
| Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,940 (GRCm39) |
L108P |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 27,981,281 (GRCm39) |
M145K |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,357,654 (GRCm39) |
N23S |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,412,047 (GRCm39) |
|
probably benign |
Het |
| Gm6434 |
T |
A |
7: 25,581,786 (GRCm39) |
|
noncoding transcript |
Het |
| Grik4 |
A |
T |
9: 42,533,392 (GRCm39) |
L376* |
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,203,090 (GRCm39) |
L51F |
probably damaging |
Het |
| Gzf1 |
A |
G |
2: 148,525,753 (GRCm39) |
T75A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,111,911 (GRCm39) |
I625T |
unknown |
Het |
| Hhat |
C |
T |
1: 192,235,242 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,914 (GRCm39) |
E181G |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,257 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
C |
11: 120,606,045 (GRCm39) |
S118R |
probably damaging |
Het |
| Ms4a5 |
A |
G |
19: 11,261,018 (GRCm39) |
L47S |
probably damaging |
Het |
| Mynn |
A |
T |
3: 30,661,608 (GRCm39) |
N230I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,593,278 (GRCm39) |
S162P |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,094,093 (GRCm39) |
F259S |
probably damaging |
Het |
| Obox1 |
T |
G |
7: 15,290,178 (GRCm39) |
S174A |
possibly damaging |
Het |
| Ociad1 |
T |
A |
5: 73,470,772 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
T |
13: 21,607,336 (GRCm39) |
V286E |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,666,567 (GRCm39) |
V1032A |
probably damaging |
Het |
| Ppm1e |
C |
T |
11: 87,131,440 (GRCm39) |
A318T |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,431,491 (GRCm39) |
D757V |
probably benign |
Het |
| Ptpdc1 |
C |
A |
13: 48,742,595 (GRCm39) |
|
probably null |
Het |
| Rbbp5 |
T |
G |
1: 132,421,582 (GRCm39) |
I94R |
possibly damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,415,518 (GRCm39) |
V173A |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,625 (GRCm39) |
N700K |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,931,203 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,175 (GRCm39) |
H188L |
probably damaging |
Het |
| Spmip11 |
A |
G |
15: 98,468,975 (GRCm39) |
S17G |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,016,754 (GRCm39) |
|
probably benign |
Het |
| Synpo |
A |
G |
18: 60,735,490 (GRCm39) |
S819P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,097,951 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,522,973 (GRCm39) |
V1468A |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,553,193 (GRCm39) |
N83S |
probably benign |
Het |
| Tle6 |
T |
C |
10: 81,431,145 (GRCm39) |
|
probably benign |
Het |
| Tm2d2 |
T |
G |
8: 25,508,130 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 127,941,710 (GRCm39) |
Q463H |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,153,102 (GRCm39) |
S324P |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,918,396 (GRCm39) |
T1172A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,489,746 (GRCm39) |
C393S |
probably benign |
Het |
| Usp42 |
G |
A |
5: 143,700,616 (GRCm39) |
L1136F |
probably damaging |
Het |
| Vmn2r92 |
T |
G |
17: 18,389,183 (GRCm39) |
M499R |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,261,071 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,450,300 (GRCm39) |
R1076H |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,118,039 (GRCm39) |
M917K |
possibly damaging |
Het |
| Wee2 |
T |
C |
6: 40,433,929 (GRCm39) |
V281A |
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,856,747 (GRCm39) |
D609G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,315,163 (GRCm39) |
H125Y |
possibly damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,236 (GRCm39) |
K202E |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (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 |
|
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 |
|
|
|
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'- TGCTATGACTCTGTAGCCCATACCTG -3'
(R):5'- TGAACTTGTTGTTTGTGGAACCCTCTC -3'
Sequencing Primer
(F):5'- GTAGCCCATACCTGGCTTC -3'
(R):5'- CAGAAGTTCCTCTAGGTGTTCAAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation