Incidental Mutation 'R4005:Mcm10'
| ID |
311415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcm10
|
| Ensembl Gene |
ENSMUSG00000026669 |
| Gene Name |
minichromosome maintenance 10 replication initiation factor |
| Synonyms |
C330019M07Rik, 2410041F14Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
4995535-5017602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5005814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 440
(S440R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027980]
[ENSMUST00000102985]
|
| AlphaFold |
Q0VBD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027980
AA Change: S440R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027980
Gene: ENSMUSG00000026669
AA Change: S440R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
102 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
228 |
N/A |
INTRINSIC |
|
Pfam:zf-primase
|
398 |
443 |
2e-21 |
PFAM |
|
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
|
Mcm10
|
538 |
883 |
2.27e-184 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102985
AA Change: S440R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100050
Gene: ENSMUSG00000026669
AA Change: S440R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
102 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
228 |
N/A |
INTRINSIC |
|
Pfam:zf-primase
|
398 |
443 |
3.7e-21 |
PFAM |
|
low complexity region
|
480 |
493 |
N/A |
INTRINSIC |
|
Mcm10
|
538 |
883 |
2.27e-184 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146257
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150091
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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 one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryonic cell proliferation and early embryonic letahlity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
A |
3: 89,657,094 (GRCm39) |
L488Q |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,868 (GRCm39) |
T348A |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,816 (GRCm39) |
M300T |
probably benign |
Het |
| Asl |
C |
T |
5: 130,047,673 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,130,355 (GRCm39) |
D160G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,374,870 (GRCm39) |
E1372G |
probably damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,395,755 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,875,390 (GRCm39) |
A530T |
probably damaging |
Het |
| Cstl1 |
A |
T |
2: 148,597,190 (GRCm39) |
I64F |
probably damaging |
Het |
| Ddx28 |
C |
G |
8: 106,737,560 (GRCm39) |
R166P |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,635,506 (GRCm39) |
M60T |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,513,809 (GRCm39) |
R844W |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,598,204 (GRCm39) |
L1699F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,981 (GRCm39) |
L1400H |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Ilkap |
T |
A |
1: 91,312,985 (GRCm39) |
N170I |
probably benign |
Het |
| Kctd3 |
T |
G |
1: 188,734,124 (GRCm39) |
I39L |
possibly damaging |
Het |
| Lrit3 |
C |
A |
3: 129,585,021 (GRCm39) |
V246L |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,678,299 (GRCm39) |
I619T |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,566,415 (GRCm39) |
P2102H |
unknown |
Het |
| Mtss2 |
CG |
CGG |
8: 111,465,673 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,257,975 (GRCm39) |
N531S |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,579,429 (GRCm39) |
D31E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ogn |
A |
C |
13: 49,762,775 (GRCm39) |
E39A |
possibly damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,088 (GRCm39) |
V248I |
probably benign |
Het |
| Or52z14 |
A |
G |
7: 103,253,470 (GRCm39) |
Y203C |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,652,210 (GRCm39) |
I214L |
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,839 (GRCm39) |
T261A |
probably benign |
Het |
| Rgs2 |
T |
A |
1: 143,877,606 (GRCm39) |
I150L |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,245,774 (GRCm39) |
D490E |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,997,265 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,966,195 (GRCm39) |
S144G |
probably benign |
Het |
|
| Other mutations in Mcm10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01529:Mcm10
|
APN |
2 |
5,013,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02028:Mcm10
|
APN |
2 |
5,013,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02672:Mcm10
|
APN |
2 |
5,006,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03352:Mcm10
|
APN |
2 |
4,999,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Mcm10
|
UTSW |
2 |
4,996,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Mcm10
|
UTSW |
2 |
4,996,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Mcm10
|
UTSW |
2 |
5,008,897 (GRCm39) |
missense |
probably benign |
|
|
R0379:Mcm10
|
UTSW |
2 |
5,013,434 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0385:Mcm10
|
UTSW |
2 |
5,008,965 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0519:Mcm10
|
UTSW |
2 |
5,013,356 (GRCm39) |
missense |
probably benign |
|
|
R1537:Mcm10
|
UTSW |
2 |
5,003,591 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1597:Mcm10
|
UTSW |
2 |
5,003,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Mcm10
|
UTSW |
2 |
5,011,336 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1758:Mcm10
|
UTSW |
2 |
5,008,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Mcm10
|
UTSW |
2 |
4,998,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3618:Mcm10
|
UTSW |
2 |
5,001,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4870:Mcm10
|
UTSW |
2 |
5,008,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Mcm10
|
UTSW |
2 |
5,012,181 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5488:Mcm10
|
UTSW |
2 |
4,996,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6921:Mcm10
|
UTSW |
2 |
5,005,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Mcm10
|
UTSW |
2 |
5,011,328 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7353:Mcm10
|
UTSW |
2 |
5,011,920 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7489:Mcm10
|
UTSW |
2 |
5,006,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Mcm10
|
UTSW |
2 |
4,996,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Mcm10
|
UTSW |
2 |
5,000,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9021:Mcm10
|
UTSW |
2 |
4,997,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9072:Mcm10
|
UTSW |
2 |
5,013,414 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9073:Mcm10
|
UTSW |
2 |
5,013,414 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9135:Mcm10
|
UTSW |
2 |
5,011,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0020:Mcm10
|
UTSW |
2 |
5,011,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCCAAGAGCAGTCAGGAG -3'
(R):5'- CAGTCAATCATGAGGGGTGAGC -3'
Sequencing Primer
(F):5'- CAGTCAGGAGAGATGCCTCAC -3'
(R):5'- CAATCATGAGGGGTGAGCTTTAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation