Incidental Mutation 'R0313:Mcmdc2'
| ID |
25301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcmdc2
|
| Ensembl Gene |
ENSMUSG00000046101 |
| Gene Name |
minichromosome maintenance domain containing 2 |
| Synonyms |
6030422M02Rik |
| MMRRC Submission |
038523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R0313 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9978863-10011179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10002366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 529
(Y529C)
|
| 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: Y529C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: Y529C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
115 |
236 |
3e-73 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140948
AA Change: Y529C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: Y529C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MCM
|
115 |
358 |
1e-139 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171802
AA Change: Y529C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: Y529C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM
|
503 |
623 |
1.4e-9 |
PFAM |
|
low complexity region
|
658 |
665 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183059
AA Change: Y7C
|
| Meta Mutation Damage Score |
0.3281 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
| Cc2d1a |
G |
A |
8: 84,863,598 (GRCm39) |
T542I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
| Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,148,707 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Haspin |
A |
G |
11: 73,027,124 (GRCm39) |
V655A |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
| Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
| Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
| Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,726,339 (GRCm39) |
H80L |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
| Ppp1r37 |
G |
A |
7: 19,267,923 (GRCm39) |
T324I |
probably damaging |
Het |
| Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
| Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
| Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Uqcrc1 |
C |
A |
9: 108,777,642 (GRCm39) |
R114S |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
| Wdr12 |
A |
T |
1: 60,121,738 (GRCm39) |
I271N |
possibly damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- GTCTGAGCTACATCCCACCCCTAAA -3'
(R):5'- tgtgtcaacacacatgcaAAATACATGC -3'
Sequencing Primer
(F):5'- caccactgagattacaagcac -3'
(R):5'- TGCATGGGCACATACACA -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation