Incidental Mutation 'IGL02470:Mcmbp'
| ID |
294685 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mcmbp
|
| Ensembl Gene |
ENSMUSG00000048170 |
| Gene Name |
minichromosome maintenance complex binding protein |
| Synonyms |
1110007A13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
128298165-128342153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128306345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 424
(I424M)
|
| 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: I424M
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: I424M
| 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: I424M
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: I424M
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
| Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
| Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
| Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
|
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 |
|
R6401:Mcmbp
|
UTSW |
7 |
128,308,783 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation