Incidental Mutation 'R6808:Mcmdc2'
| ID |
533638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcmdc2
|
| Ensembl Gene |
ENSMUSG00000046101 |
| Gene Name |
minichromosome maintenance domain containing 2 |
| Synonyms |
6030422M02Rik |
| MMRRC Submission |
044921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R6808 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9978863-10011179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10004242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 574
(T574I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125294]
[ENSMUST00000140948]
[ENSMUST00000171802]
|
| AlphaFold |
E9Q956 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125294
AA Change: T574I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: T574I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
115 |
236 |
3e-73 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140948
AA Change: T574I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: T574I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
115 |
358 |
1e-139 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171802
AA Change: T574I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: T574I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM
|
503 |
623 |
1.4e-9 |
PFAM |
|
low complexity region
|
658 |
665 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183059
|
| Meta Mutation Damage Score |
0.1239 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (40/40) |
| 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 |
|---|
| Actl9 |
A |
T |
17: 33,652,098 (GRCm39) |
I53F |
probably damaging |
Het |
| Apol7b |
T |
A |
15: 77,308,873 (GRCm39) |
D75V |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,741,528 (GRCm39) |
A387T |
probably damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,169 (GRCm39) |
|
probably null |
Het |
| Calcoco1 |
T |
C |
15: 102,618,875 (GRCm39) |
K444E |
probably damaging |
Het |
| Cers2 |
G |
A |
3: 95,228,320 (GRCm39) |
R120H |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,099,086 (GRCm39) |
C1587S |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,888,593 (GRCm39) |
K286N |
possibly damaging |
Het |
| Creld2 |
A |
G |
15: 88,709,413 (GRCm39) |
N308S |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,440,934 (GRCm39) |
S151P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,242 (GRCm39) |
H642R |
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,206 (GRCm39) |
Y151C |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,079,462 (GRCm39) |
M1206K |
probably benign |
Het |
| Fam178b |
G |
A |
1: 36,639,216 (GRCm39) |
T361M |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,035 (GRCm39) |
F234S |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,094,064 (GRCm39) |
E13D |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,460,499 (GRCm39) |
K367E |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,589,269 (GRCm39) |
E54G |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,848,346 (GRCm39) |
I492N |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,410,923 (GRCm39) |
N140S |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,229,528 (GRCm39) |
Y168H |
probably benign |
Het |
| Mbip |
A |
C |
12: 56,384,383 (GRCm39) |
|
probably null |
Het |
| Or10a3b |
T |
C |
7: 108,444,747 (GRCm39) |
T157A |
probably benign |
Het |
| Or52j3 |
T |
G |
7: 102,836,511 (GRCm39) |
D234E |
probably benign |
Het |
| Or5w22 |
A |
T |
2: 87,363,285 (GRCm39) |
M303L |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,760,085 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,337,836 (GRCm39) |
Y177C |
probably damaging |
Het |
| Or9s27 |
A |
T |
1: 92,516,768 (GRCm39) |
R239W |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,287,957 (GRCm39) |
*1148Q |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,286,445 (GRCm39) |
I582N |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,502,762 (GRCm39) |
L714R |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,822,179 (GRCm39) |
E6G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,333,298 (GRCm39) |
S1516P |
probably damaging |
Het |
| Sptlc2 |
G |
A |
12: 87,397,069 (GRCm39) |
T239I |
possibly damaging |
Het |
| Tmc1 |
A |
T |
19: 20,772,880 (GRCm39) |
V707D |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,734 (GRCm39) |
E827V |
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,258 (GRCm39) |
S58P |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,347,687 (GRCm39) |
H2022R |
possibly 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 |
|
|
R5459:Mcmdc2
|
UTSW |
1 |
10,007,309 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5748:Mcmdc2
|
UTSW |
1 |
9,982,032 (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'- AAAATCACATGCCAGCACTTTG -3'
(R):5'- CTGATGTGGCTGTCATTAAGTCATC -3'
Sequencing Primer
(F):5'- CATGCCAGCACTTTGATATTATAATG -3'
(R):5'- TTCAGACCTTCGGAAGAGCAGTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation