Incidental Mutation 'R6401:Mcmbp'
ID |
516164 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcmbp
|
Ensembl Gene |
ENSMUSG00000048170 |
Gene Name |
minichromosome maintenance complex binding protein |
Synonyms |
1110007A13Rik |
MMRRC Submission |
044548-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6401 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
128298165-128342153 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 128308783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 413
(L413I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057557]
[ENSMUST00000119081]
|
AlphaFold |
Q8R3C0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057557
AA Change: L413I
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062843 Gene: ENSMUSG00000048170 AA Change: L413I
Domain | Start | End | E-Value | Type |
Pfam:MCM_bind
|
37 |
166 |
1.6e-44 |
PFAM |
Pfam:Racemase_4
|
352 |
451 |
1.5e-38 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119081
AA Change: L413I
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113961 Gene: ENSMUSG00000048170 AA Change: L413I
Domain | Start | End | E-Value | Type |
Pfam:MCM_bind
|
36 |
588 |
3.6e-210 |
PFAM |
low complexity region
|
603 |
623 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127807
|
Meta Mutation Damage Score |
0.2338 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
93% (41/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano3 |
T |
A |
2: 110,605,459 (GRCm39) |
N249I |
probably benign |
Het |
Ap3s1 |
A |
C |
18: 46,891,074 (GRCm39) |
I56L |
probably benign |
Het |
Ccn5 |
T |
C |
2: 163,670,946 (GRCm39) |
I151T |
probably benign |
Het |
Cngb1 |
A |
G |
8: 96,030,367 (GRCm39) |
|
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,883,773 (GRCm39) |
T570A |
unknown |
Het |
Cyp3a16 |
T |
C |
5: 145,377,174 (GRCm39) |
E471G |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,477,762 (GRCm39) |
N14D |
possibly damaging |
Het |
Ext1 |
T |
C |
15: 52,969,493 (GRCm39) |
E365G |
possibly damaging |
Het |
Fbn1 |
C |
A |
2: 125,188,370 (GRCm39) |
V1490F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gm5431 |
T |
A |
11: 48,779,536 (GRCm39) |
N740I |
probably benign |
Het |
Ifi209 |
T |
C |
1: 173,472,269 (GRCm39) |
M370T |
probably damaging |
Het |
Ighv2-4 |
G |
T |
12: 113,617,082 (GRCm39) |
P60Q |
probably damaging |
Het |
Kif19b |
A |
T |
5: 140,442,698 (GRCm39) |
T80S |
possibly damaging |
Het |
Ldb3 |
A |
T |
14: 34,299,291 (GRCm39) |
L111Q |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,795,802 (GRCm39) |
M721K |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,584,809 (GRCm39) |
T738A |
probably benign |
Het |
Notch3 |
T |
A |
17: 32,377,597 (GRCm39) |
I160L |
probably benign |
Het |
Nrxn3 |
C |
A |
12: 89,221,770 (GRCm39) |
N516K |
possibly damaging |
Het |
Nt5c2 |
A |
G |
19: 46,878,250 (GRCm39) |
Y496H |
probably benign |
Het |
Or13f5 |
A |
C |
4: 52,826,242 (GRCm39) |
T282P |
probably damaging |
Het |
Or1n1 |
A |
T |
2: 36,750,177 (GRCm39) |
L61* |
probably null |
Het |
Or5b111 |
T |
C |
19: 13,290,878 (GRCm39) |
Y257C |
probably damaging |
Het |
Polm |
A |
T |
11: 5,779,491 (GRCm39) |
W436R |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,256,951 (GRCm39) |
I1221N |
probably benign |
Het |
Rfpl4b |
T |
C |
10: 38,696,941 (GRCm39) |
H220R |
possibly damaging |
Het |
Rgs12 |
T |
C |
5: 35,177,676 (GRCm39) |
F79L |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,966,595 (GRCm39) |
D111G |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,715,887 (GRCm39) |
|
probably null |
Het |
Spata22 |
T |
C |
11: 73,224,180 (GRCm39) |
S34P |
probably damaging |
Het |
St7 |
T |
A |
6: 17,855,317 (GRCm39) |
|
probably null |
Het |
Stk31 |
A |
G |
6: 49,400,372 (GRCm39) |
E399G |
probably damaging |
Het |
Tcp10b |
C |
A |
17: 13,292,466 (GRCm39) |
N296K |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,866 (GRCm39) |
Y645C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,800,206 (GRCm39) |
M334K |
probably benign |
Het |
Vcpkmt |
C |
A |
12: 69,629,619 (GRCm39) |
V48F |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,532 (GRCm39) |
Y403* |
probably null |
Het |
Vwa7 |
G |
A |
17: 35,236,286 (GRCm39) |
|
probably null |
Het |
Wscd2 |
A |
T |
5: 113,726,206 (GRCm39) |
*572C |
probably null |
Het |
Xpo7 |
A |
G |
14: 70,919,787 (GRCm39) |
L676P |
probably damaging |
Het |
Zbtb32 |
A |
C |
7: 30,291,244 (GRCm39) |
L17W |
probably damaging |
Het |
|
Other mutations in Mcmbp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Mcmbp
|
APN |
7 |
128,316,209 (GRCm39) |
nonsense |
probably null |
|
IGL01511:Mcmbp
|
APN |
7 |
128,308,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02351:Mcmbp
|
APN |
7 |
128,311,505 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02358:Mcmbp
|
APN |
7 |
128,311,505 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02470:Mcmbp
|
APN |
7 |
128,306,345 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1390:Mcmbp
|
UTSW |
7 |
128,325,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R1450:Mcmbp
|
UTSW |
7 |
128,317,655 (GRCm39) |
splice site |
probably benign |
|
R1844:Mcmbp
|
UTSW |
7 |
128,325,698 (GRCm39) |
missense |
probably damaging |
0.97 |
R1998:Mcmbp
|
UTSW |
7 |
128,310,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2926:Mcmbp
|
UTSW |
7 |
128,299,738 (GRCm39) |
unclassified |
probably benign |
|
R2943:Mcmbp
|
UTSW |
7 |
128,325,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Mcmbp
|
UTSW |
7 |
128,317,729 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4771:Mcmbp
|
UTSW |
7 |
128,300,124 (GRCm39) |
splice site |
probably null |
|
R4947:Mcmbp
|
UTSW |
7 |
128,314,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Mcmbp
|
UTSW |
7 |
128,306,248 (GRCm39) |
missense |
probably benign |
0.28 |
R5668:Mcmbp
|
UTSW |
7 |
128,314,478 (GRCm39) |
missense |
probably benign |
0.00 |
R6520:Mcmbp
|
UTSW |
7 |
128,314,451 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6885:Mcmbp
|
UTSW |
7 |
128,326,833 (GRCm39) |
splice site |
probably null |
|
R6936:Mcmbp
|
UTSW |
7 |
128,326,920 (GRCm39) |
nonsense |
probably null |
|
R7378:Mcmbp
|
UTSW |
7 |
128,306,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R7476:Mcmbp
|
UTSW |
7 |
128,305,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R8730:Mcmbp
|
UTSW |
7 |
128,317,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Mcmbp
|
UTSW |
7 |
128,308,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777-TAIL:Mcmbp
|
UTSW |
7 |
128,308,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R8917:Mcmbp
|
UTSW |
7 |
128,300,281 (GRCm39) |
missense |
probably benign |
0.00 |
R9377:Mcmbp
|
UTSW |
7 |
128,317,803 (GRCm39) |
missense |
probably benign |
0.31 |
R9527:Mcmbp
|
UTSW |
7 |
128,305,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R9789:Mcmbp
|
UTSW |
7 |
128,311,583 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9797:Mcmbp
|
UTSW |
7 |
128,317,696 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGAGTCACTGCCATTGC -3'
(R):5'- GCTTCTGCAAACTTTGTAGTGATGG -3'
Sequencing Primer
(F):5'- CAAATTTGTGCTGGGTCAATCAG -3'
(R):5'- CAAACTTTGTAGTGATGGTGTCTCAG -3'
|
Posted On |
2018-05-04 |