Incidental Mutation 'R0543:Mcm9'
ID |
50066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcm9
|
Ensembl Gene |
ENSMUSG00000058298 |
Gene Name |
minichromosome maintenance 9 homologous recombination repair factor |
Synonyms |
9030408O17Rik, Mcmdc1 |
MMRRC Submission |
038735-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0543 (G1)
|
Quality Score |
166 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53412411-53506535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53417694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 3
(R3H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075540]
[ENSMUST00000219547]
[ENSMUST00000220007]
|
AlphaFold |
Q2KHI9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075540
AA Change: R741H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000074978 Gene: ENSMUSG00000058298 AA Change: R741H
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 damaging
Transcript: ENSMUST00000219547
AA Change: R3H
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220007
AA Change: R3H
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.2675 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (69/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
T |
A |
6: 116,431,278 (GRCm39) |
|
probably null |
Het |
Apol9b |
A |
G |
15: 77,619,840 (GRCm39) |
N212S |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,971,085 (GRCm39) |
|
probably null |
Het |
Bltp1 |
G |
A |
3: 37,050,607 (GRCm39) |
S2981N |
probably benign |
Het |
Ccdc180 |
A |
T |
4: 45,900,041 (GRCm39) |
K200* |
probably null |
Het |
Ccser2 |
A |
T |
14: 36,662,149 (GRCm39) |
M345K |
probably benign |
Het |
Cdcp2 |
A |
T |
4: 106,954,873 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
C |
3: 144,454,155 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
G |
A |
6: 102,246,051 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,075,326 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,244,325 (GRCm39) |
F1035S |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,920 (GRCm39) |
S998C |
probably damaging |
Het |
Ecrg4 |
C |
A |
1: 43,781,449 (GRCm39) |
N110K |
possibly damaging |
Het |
Enox1 |
T |
C |
14: 77,744,399 (GRCm39) |
|
probably benign |
Het |
Fgfr3 |
A |
G |
5: 33,887,054 (GRCm39) |
M1V |
probably null |
Het |
Fuca2 |
T |
A |
10: 13,378,870 (GRCm39) |
Y5N |
probably damaging |
Het |
Git2 |
G |
T |
5: 114,883,592 (GRCm39) |
H42Q |
probably damaging |
Het |
Gm7964 |
G |
A |
7: 83,405,602 (GRCm39) |
|
noncoding transcript |
Het |
Hars2 |
G |
A |
18: 36,922,477 (GRCm39) |
E337K |
probably damaging |
Het |
Hells |
A |
G |
19: 38,956,194 (GRCm39) |
R797G |
probably benign |
Het |
Hnf1a |
G |
A |
5: 115,088,803 (GRCm39) |
S571L |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,320 (GRCm39) |
Y4C |
probably damaging |
Het |
Inpp4a |
G |
A |
1: 37,408,573 (GRCm39) |
|
probably benign |
Het |
Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,492,709 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
T |
A |
2: 79,474,850 (GRCm39) |
S270T |
possibly damaging |
Het |
Kcnt2 |
C |
A |
1: 140,537,352 (GRCm39) |
P1037T |
probably damaging |
Het |
Lyg2 |
T |
A |
1: 37,950,188 (GRCm39) |
M47L |
possibly damaging |
Het |
Macf1 |
G |
T |
4: 123,270,171 (GRCm39) |
A4648D |
probably damaging |
Het |
Mcf2l |
T |
C |
8: 13,046,728 (GRCm39) |
|
probably null |
Het |
Met |
T |
A |
6: 17,491,969 (GRCm39) |
Y244N |
probably damaging |
Het |
Mettl14 |
A |
T |
3: 123,168,411 (GRCm39) |
C210S |
possibly damaging |
Het |
Mrgpra4 |
T |
C |
7: 47,631,058 (GRCm39) |
Y181C |
probably benign |
Het |
Mtch2 |
T |
C |
2: 90,680,026 (GRCm39) |
V86A |
possibly damaging |
Het |
Mttp |
A |
T |
3: 137,817,457 (GRCm39) |
I446N |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,577,120 (GRCm39) |
S2207T |
unknown |
Het |
Muc5b |
A |
G |
7: 141,405,522 (GRCm39) |
T944A |
unknown |
Het |
Myo15a |
A |
T |
11: 60,369,877 (GRCm39) |
H879L |
probably benign |
Het |
Nherf4 |
A |
C |
9: 44,160,231 (GRCm39) |
H324Q |
probably damaging |
Het |
Nkiras2 |
G |
A |
11: 100,515,018 (GRCm39) |
|
probably benign |
Het |
Nostrin |
T |
G |
2: 69,019,475 (GRCm39) |
*507E |
probably null |
Het |
Nup205 |
T |
C |
6: 35,175,904 (GRCm39) |
V589A |
probably benign |
Het |
Or12j3 |
A |
G |
7: 139,953,307 (GRCm39) |
I72T |
probably benign |
Het |
Or5b21 |
G |
T |
19: 12,839,252 (GRCm39) |
V38F |
probably benign |
Het |
Or5w17 |
C |
A |
2: 87,583,994 (GRCm39) |
L114F |
probably damaging |
Het |
Oxct2b |
T |
A |
4: 123,010,782 (GRCm39) |
M234K |
possibly damaging |
Het |
Pcdha1 |
A |
T |
18: 37,318,121 (GRCm39) |
I945F |
probably damaging |
Het |
Pik3ca |
G |
A |
3: 32,504,410 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,887 (GRCm39) |
|
probably null |
Het |
Plscr1 |
A |
T |
9: 92,140,099 (GRCm39) |
|
probably null |
Het |
Prkn |
G |
A |
17: 11,286,066 (GRCm39) |
D20N |
probably damaging |
Het |
Psd |
T |
C |
19: 46,307,956 (GRCm39) |
E684G |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,213,199 (GRCm39) |
E870G |
probably damaging |
Het |
Rpl22l1 |
C |
A |
3: 28,861,423 (GRCm39) |
Y103* |
probably null |
Het |
Semp2l2b |
T |
C |
10: 21,942,823 (GRCm39) |
S386G |
possibly damaging |
Het |
Slc38a4 |
A |
T |
15: 96,914,720 (GRCm39) |
N44K |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,623 (GRCm39) |
I93F |
probably damaging |
Het |
Strip1 |
G |
A |
3: 107,534,091 (GRCm39) |
T181M |
possibly damaging |
Het |
Stxbp5l |
G |
A |
16: 37,028,458 (GRCm39) |
A535V |
probably damaging |
Het |
Tg |
A |
T |
15: 66,601,446 (GRCm39) |
Q152L |
probably benign |
Het |
Thada |
T |
C |
17: 84,730,591 (GRCm39) |
T1036A |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,991,856 (GRCm39) |
T941S |
probably benign |
Het |
Tppp3 |
T |
C |
8: 106,194,840 (GRCm39) |
D97G |
probably benign |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,690,449 (GRCm39) |
I210V |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,711,574 (GRCm39) |
L1440P |
probably damaging |
Het |
Utp18 |
A |
T |
11: 93,766,661 (GRCm39) |
Y317N |
probably damaging |
Het |
Zdhhc5 |
T |
A |
2: 84,522,824 (GRCm39) |
|
probably benign |
Het |
Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
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 |
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 |
|
|
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'- GAGAGCCGCTTCTTCGGGATTTAC -3'
(R):5'- ACACAACATTGCCTGGACTGTGAC -3'
Sequencing Primer
(F):5'- AGAGTGAAGGTCTCTGTCCC -3'
(R):5'- CCTGGACTGTGACGGCTTAG -3'
|
Posted On |
2013-06-12 |