Incidental Mutation 'R7671:Mcm9'
ID |
592166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcm9
|
Ensembl Gene |
ENSMUSG00000058298 |
Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
Synonyms |
9030408O17Rik, Mcmdc1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7671 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53413665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 472
(S472P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219547]
[ENSMUST00000220007]
|
AlphaFold |
Q2KHI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075540
AA Change: S1210P
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000074978 Gene: ENSMUSG00000058298 AA Change: S1210P
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
AA Change: S472P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220007
AA Change: S472P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
C |
A |
7: 75,219,648 (GRCm39) |
T17K |
probably damaging |
Het |
Ankrd29 |
T |
A |
18: 12,394,043 (GRCm39) |
K257I |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,792,997 (GRCm39) |
L219P |
probably benign |
Het |
Bltp1 |
T |
C |
3: 36,997,380 (GRCm39) |
F1146L |
probably damaging |
Het |
Boc |
C |
T |
16: 44,312,212 (GRCm39) |
V617M |
|
Het |
Ccl8 |
A |
G |
11: 82,006,033 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,921,217 (GRCm39) |
L261P |
unknown |
Het |
Col5a3 |
T |
A |
9: 20,686,382 (GRCm39) |
|
probably null |
Het |
Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
Csf2rb |
A |
G |
15: 78,223,130 (GRCm39) |
Y114C |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
Ctnnal1 |
A |
G |
4: 56,837,848 (GRCm39) |
F261L |
probably damaging |
Het |
Defb22 |
A |
T |
2: 152,327,950 (GRCm39) |
N78K |
unknown |
Het |
Dele1 |
T |
A |
18: 38,392,978 (GRCm39) |
I394N |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,709,283 (GRCm39) |
|
probably null |
Het |
Elp4 |
G |
T |
2: 105,734,826 (GRCm39) |
A3E |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,580,905 (GRCm39) |
V607A |
probably benign |
Het |
Epsti1 |
A |
G |
14: 78,141,930 (GRCm39) |
Y2C |
probably damaging |
Het |
Fam81b |
A |
C |
13: 76,419,412 (GRCm39) |
L46R |
probably damaging |
Het |
Fam81b |
G |
T |
13: 76,419,413 (GRCm39) |
L46I |
possibly damaging |
Het |
Fbxo15 |
T |
A |
18: 84,982,278 (GRCm39) |
H288Q |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,973,323 (GRCm39) |
N77I |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,890,216 (GRCm39) |
Y715C |
possibly damaging |
Het |
H2bc27 |
T |
C |
11: 58,840,102 (GRCm39) |
S113P |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,764,627 (GRCm39) |
D1539G |
probably damaging |
Het |
Kcp |
T |
C |
6: 29,496,516 (GRCm39) |
N633S |
probably benign |
Het |
Krt6a |
C |
A |
15: 101,598,978 (GRCm39) |
S529I |
unknown |
Het |
Leo1 |
A |
G |
9: 75,352,844 (GRCm39) |
H129R |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,798,323 (GRCm39) |
V55M |
possibly damaging |
Het |
Med27 |
T |
A |
2: 29,267,950 (GRCm39) |
V33D |
|
Het |
Mgat4f |
T |
C |
1: 134,317,800 (GRCm39) |
C191R |
probably benign |
Het |
Mup15 |
C |
T |
4: 61,356,526 (GRCm39) |
E80K |
probably benign |
Het |
Myo18a |
G |
A |
11: 77,750,246 (GRCm39) |
R199H |
|
Het |
Nebl |
T |
A |
2: 17,395,727 (GRCm39) |
R558* |
probably null |
Het |
Or10ak8 |
A |
T |
4: 118,774,183 (GRCm39) |
H160Q |
probably benign |
Het |
Or11g7 |
G |
T |
14: 50,691,342 (GRCm39) |
V278L |
probably benign |
Het |
Or12e9 |
A |
G |
2: 87,202,613 (GRCm39) |
T246A |
probably damaging |
Het |
Or4a79 |
A |
T |
2: 89,551,603 (GRCm39) |
I284K |
probably damaging |
Het |
Or5p78 |
T |
C |
7: 108,212,198 (GRCm39) |
I228T |
probably damaging |
Het |
Or6c217 |
T |
C |
10: 129,738,222 (GRCm39) |
D119G |
probably damaging |
Het |
Or8b41 |
A |
T |
9: 38,054,736 (GRCm39) |
M97L |
probably benign |
Het |
Pde11a |
A |
T |
2: 76,045,697 (GRCm39) |
F376I |
possibly damaging |
Het |
Prima1 |
A |
T |
12: 103,201,920 (GRCm39) |
C52S |
probably damaging |
Het |
Pxn |
G |
A |
5: 115,686,606 (GRCm39) |
R366H |
not run |
Het |
Sgce |
T |
C |
6: 4,691,564 (GRCm39) |
Y337C |
probably damaging |
Het |
Slc25a10 |
T |
A |
11: 120,386,286 (GRCm39) |
M130K |
probably benign |
Het |
Slc29a2 |
A |
T |
19: 5,074,290 (GRCm39) |
N5I |
probably benign |
Het |
Slc35a1 |
A |
T |
4: 34,673,875 (GRCm39) |
H150Q |
|
Het |
Slc5a4a |
T |
A |
10: 75,983,384 (GRCm39) |
V7D |
unknown |
Het |
Stk17b |
T |
A |
1: 53,805,159 (GRCm39) |
D134V |
probably damaging |
Het |
Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
Thbs3 |
T |
A |
3: 89,124,014 (GRCm39) |
S36T |
probably benign |
Het |
Thsd4 |
A |
G |
9: 60,335,457 (GRCm39) |
S152P |
probably benign |
Het |
Tmem67 |
G |
T |
4: 12,063,698 (GRCm39) |
H422N |
probably benign |
Het |
Tram1 |
C |
A |
1: 13,659,868 (GRCm39) |
V27F |
probably damaging |
Het |
Trim14 |
A |
G |
4: 46,507,238 (GRCm39) |
V326A |
possibly 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 |
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 |
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'- ACTGTGACCAGAAAGCTTTTCC -3'
(R):5'- TATTCAGCCCAAACCGGAGC -3'
Sequencing Primer
(F):5'- CGTCATCTAGTTCCGACAGAGTG -3'
(R):5'- CCAAACCGGAGCTTGGGAAC -3'
|
Posted On |
2019-11-12 |