Incidental Mutation 'R3789:Mcm9'
| ID |
272445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
041604-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3789 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53492113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 403
(R403W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219838]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075540
AA Change: R403W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: R403W
| 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: R351W
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219458
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219838
AA Change: R403W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219841
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
| Acvrl1 |
C |
T |
15: 101,035,350 (GRCm39) |
T292M |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,870,588 (GRCm39) |
S688P |
probably damaging |
Het |
| Adprs |
A |
T |
4: 126,210,544 (GRCm39) |
I312N |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,680,717 (GRCm39) |
G20V |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,547,005 (GRCm39) |
V2276L |
possibly damaging |
Het |
| Cstdc2 |
C |
A |
2: 148,689,878 (GRCm39) |
E92* |
probably null |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
A |
14: 67,476,942 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,384,869 (GRCm39) |
T195A |
probably benign |
Het |
| Frs3 |
G |
A |
17: 48,010,621 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,813,058 (GRCm39) |
S640P |
probably damaging |
Het |
| Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,955,613 (GRCm39) |
S1310P |
probably damaging |
Het |
| Hltf |
C |
T |
3: 20,123,211 (GRCm39) |
P200S |
probably damaging |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,407,838 (GRCm39) |
D1817G |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,078,956 (GRCm39) |
I253V |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,517,115 (GRCm39) |
D222G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,156 (GRCm39) |
D127E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,730,464 (GRCm39) |
|
probably benign |
Het |
| Plekha7 |
A |
C |
7: 115,774,969 (GRCm39) |
I175R |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Rexo2 |
A |
G |
9: 48,384,362 (GRCm39) |
I139T |
probably damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,101,106 (GRCm39) |
S811R |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,276 (GRCm39) |
D345G |
probably benign |
Het |
| Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,825,844 (GRCm39) |
E539G |
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,387,150 (GRCm39) |
T212A |
possibly damaging |
Het |
| Spa17 |
T |
G |
9: 37,523,141 (GRCm39) |
K49Q |
possibly damaging |
Het |
| St3gal6 |
C |
T |
16: 58,305,136 (GRCm39) |
E109K |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,050,955 (GRCm39) |
N5D |
probably benign |
Het |
| Tmem232 |
C |
T |
17: 65,689,520 (GRCm39) |
D532N |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
| Tmem81 |
A |
G |
1: 132,435,809 (GRCm39) |
N205S |
probably benign |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,348 (GRCm39) |
N567I |
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 |
|
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'- AACCTGCAAAGGGGTCACTC -3'
(R):5'- CCCAGTAAAGGGCATTGTGTG -3'
Sequencing Primer
(F):5'- CCTGCAAAGGGGTCACTCTTATAG -3'
(R):5'- ACCTAAAATTGGTCGTTGCTTTTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation