Incidental Mutation 'R5459:Mcmdc2'
| ID |
432906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcmdc2
|
| Ensembl Gene |
ENSMUSG00000046101 |
| Gene Name |
minichromosome maintenance domain containing 2 |
| Synonyms |
6030422M02Rik |
| MMRRC Submission |
043022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
9978863-10011179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10007309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 620
(I620V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125294]
[ENSMUST00000140948]
[ENSMUST00000171802]
|
| AlphaFold |
E9Q956 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125294
|
| SMART Domains |
Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
115 |
236 |
3e-73 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140948
AA Change: I620V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: I620V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
115 |
358 |
1e-139 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171802
AA Change: I620V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: I620V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM
|
503 |
623 |
1.4e-9 |
PFAM |
|
low complexity region
|
658 |
665 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182043
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183059
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout mice of both sexes are sterile as a result of abnormal meiosis. This in turn is caused by defective double-strand break DNA repair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
A |
G |
17: 35,879,079 (GRCm39) |
E139G |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,631,607 (GRCm39) |
N1223S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,023,654 (GRCm39) |
F259Y |
possibly damaging |
Het |
| Armc9 |
G |
A |
1: 86,135,694 (GRCm39) |
R550Q |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,887,334 (GRCm39) |
D787G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,148,472 (GRCm39) |
I283V |
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,472,650 (GRCm39) |
M23V |
probably benign |
Het |
| Fbxw11 |
T |
C |
11: 32,689,191 (GRCm39) |
V438A |
possibly damaging |
Het |
| Fcrla |
G |
A |
1: 170,745,738 (GRCm39) |
T348M |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,227,483 (GRCm39) |
H1557Q |
probably benign |
Het |
| Gpr87 |
A |
G |
3: 59,087,148 (GRCm39) |
V119A |
possibly damaging |
Het |
| Grep1 |
C |
T |
17: 23,930,817 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
| Hs3st5 |
T |
C |
10: 36,704,742 (GRCm39) |
V15A |
possibly damaging |
Het |
| Hyal5 |
C |
T |
6: 24,891,250 (GRCm39) |
H355Y |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map4k3 |
T |
A |
17: 80,917,216 (GRCm39) |
N587Y |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,332,316 (GRCm39) |
L1211* |
probably null |
Het |
| Mical2 |
C |
T |
7: 111,981,444 (GRCm39) |
H539Y |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,791,803 (GRCm39) |
L1802P |
probably damaging |
Het |
| Neto2 |
T |
A |
8: 86,397,112 (GRCm39) |
I47F |
probably benign |
Het |
| Oog3 |
G |
A |
4: 143,885,815 (GRCm39) |
T261I |
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,799 (GRCm39) |
E109G |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,086,158 (GRCm39) |
L519P |
probably benign |
Het |
| Pnpla6 |
A |
T |
8: 3,585,829 (GRCm39) |
M844L |
probably benign |
Het |
| Polk |
C |
T |
13: 96,631,984 (GRCm39) |
G250R |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 156,985,231 (GRCm39) |
S839P |
probably damaging |
Het |
| Siae |
T |
C |
9: 37,528,119 (GRCm39) |
Y31H |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,422,912 (GRCm39) |
V379A |
probably damaging |
Het |
| Snx9 |
C |
T |
17: 5,970,913 (GRCm39) |
T418M |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,724,272 (GRCm39) |
S303A |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,185 (GRCm39) |
T258A |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,576,921 (GRCm39) |
D1058E |
probably damaging |
Het |
| Tecpr1 |
T |
A |
5: 144,144,234 (GRCm39) |
Y656F |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,715,890 (GRCm39) |
I1168K |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,014,510 (GRCm39) |
E587G |
probably damaging |
Het |
| Tyw1 |
A |
C |
5: 130,303,547 (GRCm39) |
D305A |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,475 (GRCm39) |
Y9* |
probably null |
Het |
| Zkscan3 |
A |
T |
13: 21,578,982 (GRCm39) |
V142E |
probably damaging |
Het |
|
| Other mutations in Mcmdc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02374:Mcmdc2
|
APN |
1 |
9,982,207 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03087:Mcmdc2
|
APN |
1 |
10,001,170 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03230:Mcmdc2
|
APN |
1 |
10,002,221 (GRCm39) |
unclassified |
probably benign |
|
|
R0313:Mcmdc2
|
UTSW |
1 |
10,002,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Mcmdc2
|
UTSW |
1 |
10,010,767 (GRCm39) |
makesense |
probably null |
|
|
R0685:Mcmdc2
|
UTSW |
1 |
9,982,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0926:Mcmdc2
|
UTSW |
1 |
9,990,801 (GRCm39) |
nonsense |
probably null |
|
|
R1590:Mcmdc2
|
UTSW |
1 |
9,986,780 (GRCm39) |
nonsense |
probably null |
|
|
R1867:Mcmdc2
|
UTSW |
1 |
10,001,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Mcmdc2
|
UTSW |
1 |
10,001,026 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5199:Mcmdc2
|
UTSW |
1 |
9,990,660 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5341:Mcmdc2
|
UTSW |
1 |
10,011,142 (GRCm39) |
frame shift |
probably null |
|
|
R5748:Mcmdc2
|
UTSW |
1 |
9,982,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Mcmdc2
|
UTSW |
1 |
10,004,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Mcmdc2
|
UTSW |
1 |
10,001,003 (GRCm39) |
splice site |
probably null |
|
|
R7123:Mcmdc2
|
UTSW |
1 |
10,010,643 (GRCm39) |
missense |
unknown |
|
|
R7233:Mcmdc2
|
UTSW |
1 |
10,002,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7498:Mcmdc2
|
UTSW |
1 |
9,989,302 (GRCm39) |
missense |
probably benign |
|
|
R7646:Mcmdc2
|
UTSW |
1 |
9,982,360 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7834:Mcmdc2
|
UTSW |
1 |
9,982,399 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8118:Mcmdc2
|
UTSW |
1 |
9,986,599 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8194:Mcmdc2
|
UTSW |
1 |
9,986,867 (GRCm39) |
missense |
probably benign |
|
|
R8283:Mcmdc2
|
UTSW |
1 |
10,004,263 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8434:Mcmdc2
|
UTSW |
1 |
9,990,806 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8523:Mcmdc2
|
UTSW |
1 |
9,981,946 (GRCm39) |
start codon destroyed |
probably null |
0.87 |
|
R9244:Mcmdc2
|
UTSW |
1 |
9,985,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Mcmdc2
|
UTSW |
1 |
9,994,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Mcmdc2
|
UTSW |
1 |
9,982,191 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACGTGTAGTTCGTGTTATGTC -3'
(R):5'- CAGCAGATGATATTGCACCAC -3'
Sequencing Primer
(F):5'- TGTCTTGGTTTGTTCCTGTTTAATAC -3'
(R):5'- TTGAGTTTACAAACAGCCTGGGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation