Incidental Mutation 'R3787:Mcm9'
| ID |
272323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
040754-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3787 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53492076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 415
(V415A)
|
| 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: V415A
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: V415A
| 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 |
unknown
Transcript: ENSMUST00000218549
AA Change: V363A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219838
AA Change: V415A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219841
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,268 (GRCm39) |
D65G |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,493 (GRCm39) |
R62L |
possibly damaging |
Het |
| Bmp4 |
C |
T |
14: 46,623,171 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,964,653 (GRCm39) |
D1514Y |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,734,433 (GRCm39) |
F418S |
probably damaging |
Het |
| Ccdc112 |
C |
T |
18: 46,432,365 (GRCm39) |
R72H |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,092 (GRCm39) |
Y371H |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,070 (GRCm39) |
Y403H |
probably damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,668 (GRCm39) |
V352A |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,277,162 (GRCm39) |
D2893G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,974,015 (GRCm39) |
D2800G |
probably damaging |
Het |
| Dnaja2 |
C |
T |
8: 86,267,015 (GRCm39) |
G281R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,727,035 (GRCm39) |
T449A |
probably benign |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,583 (GRCm39) |
S519R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,012 (GRCm39) |
N1007K |
possibly damaging |
Het |
| Mpped1 |
A |
T |
15: 83,680,784 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,380,670 (GRCm39) |
V116A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,970,503 (GRCm39) |
I270T |
possibly damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,041,994 (GRCm39) |
D26G |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,217,748 (GRCm39) |
V45I |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,868 (GRCm39) |
P1447Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,242 (GRCm39) |
T59A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,489,583 (GRCm39) |
A193V |
probably damaging |
Het |
| Pramel48 |
T |
A |
5: 95,630,756 (GRCm39) |
L211Q |
probably damaging |
Het |
| Prdm15 |
G |
T |
16: 97,598,945 (GRCm39) |
H904Q |
probably benign |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,772,199 (GRCm39) |
D162E |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,206 (GRCm39) |
L2528Q |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,453,357 (GRCm39) |
S264T |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,149,944 (GRCm39) |
A1602T |
probably benign |
Het |
| Sipa1l2 |
C |
A |
8: 126,177,122 (GRCm39) |
C1164F |
possibly damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,685,483 (GRCm39) |
L254I |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,874,816 (GRCm39) |
N291S |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,805,141 (GRCm39) |
D279V |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,751 (GRCm39) |
M294L |
probably benign |
Het |
| Vmn2r58 |
C |
T |
7: 41,513,498 (GRCm39) |
D382N |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
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 |
|
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'- TCAATGCCAGAAACAGACTTGAAG -3'
(R):5'- AACAGATGTCCTTGGAAACAGG -3'
Sequencing Primer
(F):5'- TGCCAGAAACAGACTTGAAGATACTG -3'
(R):5'- ACAGGAAGTTATGGGCAGCTTATTTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation