Incidental Mutation 'R7997:Mcm9'
| ID |
616151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm9
|
| Ensembl Gene |
ENSMUSG00000058298 |
| Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
| Synonyms |
9030408O17Rik, Mcmdc1 |
| MMRRC Submission |
046037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7997 (G1)
|
| Quality Score |
148.008 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to A
at 53473502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020004]
[ENSMUST00000075540]
[ENSMUST00000219271]
[ENSMUST00000219282]
[ENSMUST00000219547]
[ENSMUST00000220007]
|
| AlphaFold |
Q2KHI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020004
|
| SMART Domains |
Protein: ENSMUSP00000020004
Gene: ENSMUSG00000019857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASF1_hist_chap
|
1 |
154 |
7.1e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075540
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
| 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: ENSMUST00000218025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219282
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220007
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
G |
A |
14: 41,766,209 (GRCm39) |
|
probably benign |
Het |
| Abra |
A |
C |
15: 41,729,593 (GRCm39) |
M269R |
probably damaging |
Het |
| Atp6v0e2 |
A |
G |
6: 48,514,718 (GRCm39) |
I12V |
probably benign |
Het |
| Bicral |
T |
A |
17: 47,112,534 (GRCm39) |
I889F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,569,609 (GRCm39) |
V826A |
probably benign |
Het |
| Casq2 |
A |
T |
3: 101,994,158 (GRCm39) |
K68N |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,432,518 (GRCm39) |
Q135H |
possibly damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,270 (GRCm39) |
H253L |
probably damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,999,514 (GRCm39) |
E233G |
probably damaging |
Het |
| Fbxo6 |
A |
G |
4: 148,231,852 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gimap6 |
G |
T |
6: 48,679,249 (GRCm39) |
N262K |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Grid2 |
C |
A |
6: 64,297,120 (GRCm39) |
H494Q |
possibly damaging |
Het |
| Hmgcl |
T |
A |
4: 135,687,320 (GRCm39) |
Y198* |
probably null |
Het |
| Hmgxb4 |
A |
T |
8: 75,727,956 (GRCm39) |
Y313F |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Insc |
A |
G |
7: 114,444,372 (GRCm39) |
D453G |
probably damaging |
Het |
| Iqub |
T |
C |
6: 24,501,413 (GRCm39) |
N179S |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,745,220 (GRCm39) |
K1597N |
unknown |
Het |
| Kntc1 |
T |
C |
5: 123,916,117 (GRCm39) |
V682A |
probably damaging |
Het |
| Med30 |
T |
C |
15: 52,593,467 (GRCm39) |
L149P |
probably damaging |
Het |
| Mmd2 |
T |
A |
5: 142,560,615 (GRCm39) |
H102L |
possibly damaging |
Het |
| Mtres1 |
T |
C |
10: 43,401,356 (GRCm39) |
T198A |
probably benign |
Het |
| Mybph |
G |
A |
1: 134,122,405 (GRCm39) |
R150H |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,901,919 (GRCm39) |
T156A |
probably benign |
Het |
| Or2g1 |
T |
A |
17: 38,107,053 (GRCm39) |
C239* |
probably null |
Het |
| Pecr |
T |
A |
1: 72,315,475 (GRCm39) |
K92* |
probably null |
Het |
| Pithd1 |
T |
C |
4: 135,703,723 (GRCm39) |
T207A |
probably benign |
Het |
| Prdm10 |
T |
A |
9: 31,264,721 (GRCm39) |
C719S |
probably damaging |
Het |
| Rasef |
C |
A |
4: 73,658,799 (GRCm39) |
W316L |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,701,581 (GRCm39) |
V149A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,702,968 (GRCm39) |
V5034D |
unknown |
Het |
| Slc26a10 |
A |
G |
10: 127,009,178 (GRCm39) |
V661A |
possibly damaging |
Het |
| Slc30a8 |
T |
G |
15: 52,189,081 (GRCm39) |
I232S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,772,364 (GRCm39) |
F1464L |
unknown |
Het |
| Smg1 |
A |
C |
7: 117,772,365 (GRCm39) |
H1463Q |
unknown |
Het |
| Spata1 |
G |
A |
3: 146,182,035 (GRCm39) |
A245V |
probably benign |
Het |
| St8sia1 |
C |
T |
6: 142,909,376 (GRCm39) |
C40Y |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,991,672 (GRCm39) |
T216A |
probably benign |
Het |
| Tecpr2 |
G |
A |
12: 110,900,037 (GRCm39) |
E802K |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,523,512 (GRCm39) |
I1685V |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,683 (GRCm39) |
D307G |
probably benign |
Het |
| Usp17le |
A |
T |
7: 104,418,046 (GRCm39) |
D365E |
possibly damaging |
Het |
| Vmn1r13 |
T |
G |
6: 57,187,329 (GRCm39) |
S163A |
possibly damaging |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,600 (GRCm39) |
T111S |
probably damaging |
Het |
| Wdr95 |
G |
T |
5: 149,502,622 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
G |
A |
4: 34,808,688 (GRCm39) |
P1457L |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
probably damaging |
Het |
| Zfp606 |
T |
C |
7: 12,228,134 (GRCm39) |
S752P |
possibly damaging |
Het |
| Zscan29 |
T |
G |
2: 120,991,221 (GRCm39) |
S856R |
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 |
|
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 |
|
|
|
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'- GGATAACCCGTCGCCTTTCTAC -3'
(R):5'- CTAGGGTGCCATGGAACTTC -3'
Sequencing Primer
(F):5'- TACAACCCGTTCCAGTTCGAG -3'
(R):5'- TGCCATGGAACTTCCCAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation