Incidental Mutation 'R6025:Mcm9'
ID |
479983 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcm9
|
Ensembl Gene |
ENSMUSG00000058298 |
Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
Synonyms |
9030408O17Rik, Mcmdc1 |
MMRRC Submission |
044197-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6025 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53492073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 416
(E416G)
|
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: E416G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000074978 Gene: ENSMUSG00000058298 AA Change: E416G
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: E364G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219458
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219838
AA Change: E416G
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219841
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 92.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
GC |
G |
11: 59,101,139 (GRCm39) |
|
probably null |
Het |
Acvr1b |
C |
A |
15: 101,092,856 (GRCm39) |
D166E |
probably benign |
Het |
Adgra2 |
T |
C |
8: 27,604,491 (GRCm39) |
I522T |
probably damaging |
Het |
Adgre4 |
C |
T |
17: 56,099,013 (GRCm39) |
S173L |
probably benign |
Het |
Akap9 |
A |
T |
5: 4,082,801 (GRCm39) |
Q1975L |
probably damaging |
Het |
Ap3d1 |
T |
A |
10: 80,546,298 (GRCm39) |
M965L |
probably benign |
Het |
Brca2 |
CATA |
CA |
5: 150,465,040 (GRCm39) |
|
probably null |
Het |
Chd6 |
T |
C |
2: 160,807,502 (GRCm39) |
N1904S |
probably benign |
Het |
Clstn3 |
A |
T |
6: 124,408,623 (GRCm39) |
S896R |
possibly damaging |
Het |
Col6a3 |
T |
A |
1: 90,755,824 (GRCm39) |
D155V |
probably damaging |
Het |
Dct |
T |
C |
14: 118,273,876 (GRCm39) |
T344A |
possibly damaging |
Het |
Dctn1 |
T |
A |
6: 83,170,673 (GRCm39) |
|
probably null |
Het |
Dgkz |
T |
C |
2: 91,776,255 (GRCm39) |
T3A |
possibly damaging |
Het |
Duoxa2 |
T |
C |
2: 122,132,332 (GRCm39) |
S249P |
possibly damaging |
Het |
Ehbp1 |
A |
T |
11: 22,189,156 (GRCm39) |
V82E |
probably damaging |
Het |
Fcho1 |
A |
T |
8: 72,165,217 (GRCm39) |
|
probably null |
Het |
Garin5b |
T |
A |
7: 4,761,143 (GRCm39) |
D523V |
probably benign |
Het |
Ifi213 |
T |
A |
1: 173,422,800 (GRCm39) |
N22Y |
probably damaging |
Het |
Kcnq1 |
T |
A |
7: 142,660,170 (GRCm39) |
|
probably benign |
Het |
Kif7 |
T |
A |
7: 79,354,388 (GRCm39) |
Q799L |
probably benign |
Het |
Lmnb1 |
T |
A |
18: 56,862,456 (GRCm39) |
L206* |
probably null |
Het |
Lonp2 |
G |
T |
8: 87,440,001 (GRCm39) |
G247V |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,206,306 (GRCm39) |
Y121C |
probably damaging |
Het |
Mboat1 |
C |
A |
13: 30,408,509 (GRCm39) |
T224K |
probably benign |
Het |
Mtnr1b |
A |
T |
9: 15,774,093 (GRCm39) |
I322N |
probably damaging |
Het |
Nanog |
G |
A |
6: 122,690,350 (GRCm39) |
G227R |
possibly damaging |
Het |
Nbn |
T |
C |
4: 15,981,347 (GRCm39) |
S480P |
probably damaging |
Het |
Nek10 |
C |
A |
14: 14,865,633 (GRCm38) |
L638M |
probably benign |
Het |
Nelfcd |
T |
C |
2: 174,268,611 (GRCm39) |
V538A |
probably damaging |
Het |
Or1e33 |
A |
T |
11: 73,738,745 (GRCm39) |
S69T |
probably benign |
Het |
Or2b4 |
T |
G |
17: 38,116,312 (GRCm39) |
I92S |
probably damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,416 (GRCm39) |
I63V |
probably benign |
Het |
Or5b97 |
T |
A |
19: 12,879,034 (GRCm39) |
T37S |
probably benign |
Het |
Phf24 |
G |
A |
4: 42,938,780 (GRCm39) |
|
probably null |
Het |
Pigz |
T |
C |
16: 31,764,528 (GRCm39) |
S529P |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,383,144 (GRCm39) |
E321G |
probably damaging |
Het |
Plcb3 |
G |
A |
19: 6,933,547 (GRCm39) |
T926I |
probably benign |
Het |
Pm20d2 |
G |
A |
4: 33,181,833 (GRCm39) |
P257S |
probably damaging |
Het |
Pon2 |
A |
G |
6: 5,289,057 (GRCm39) |
V34A |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,110,855 (GRCm39) |
F76S |
possibly damaging |
Het |
Prpf31 |
G |
A |
7: 3,642,668 (GRCm39) |
E414K |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,902,455 (GRCm39) |
L404Q |
probably damaging |
Het |
Slc26a11 |
C |
T |
11: 119,265,654 (GRCm39) |
A389V |
probably damaging |
Het |
Slc2a1 |
A |
T |
4: 118,993,539 (GRCm39) |
T459S |
possibly damaging |
Het |
Spi1 |
T |
C |
2: 90,944,685 (GRCm39) |
L135P |
probably benign |
Het |
Sspo |
T |
C |
6: 48,463,720 (GRCm39) |
L3844P |
possibly damaging |
Het |
Stxbp5 |
T |
A |
10: 9,675,772 (GRCm39) |
T616S |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,712,896 (GRCm39) |
|
probably null |
Het |
Synm |
G |
T |
7: 67,384,686 (GRCm39) |
A550D |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,787,373 (GRCm39) |
V891A |
possibly damaging |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tlx1 |
A |
T |
19: 45,144,413 (GRCm39) |
Q45L |
probably damaging |
Het |
Tmem104 |
C |
A |
11: 115,096,349 (GRCm39) |
Y191* |
probably null |
Het |
Tmem17 |
A |
C |
11: 22,468,659 (GRCm39) |
*199C |
probably null |
Het |
Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,027,256 (GRCm39) |
V538A |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,734,727 (GRCm39) |
D3250G |
possibly damaging |
Het |
Usp4 |
A |
G |
9: 108,237,322 (GRCm39) |
H130R |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,302,665 (GRCm39) |
Q1773R |
probably benign |
Het |
Zfp790 |
A |
G |
7: 29,528,970 (GRCm39) |
K552E |
possibly damaging |
Het |
Zswim5 |
G |
A |
4: 116,808,106 (GRCm39) |
R230Q |
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 |
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 |
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'- ACAGATGTCCTTGGAAACAGG -3'
Sequencing Primer
(F):5'- TGCCAGAAACAGACTTGAAGATACTG -3'
(R):5'- ACAGGAAGTTATGGGCAGCTTATTTC -3'
|
Posted On |
2017-06-26 |