Incidental Mutation 'IGL01308:Mcmbp'
ID |
73554 |
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 # |
IGL01308
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
128298165-128342153 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 128316209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 214
(Q214*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057557]
[ENSMUST00000119081]
|
AlphaFold |
Q8R3C0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000057557
AA Change: Q214*
|
SMART Domains |
Protein: ENSMUSP00000062843 Gene: ENSMUSG00000048170 AA Change: Q214*
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 |
probably null
Transcript: ENSMUST00000119081
AA Change: Q214*
|
SMART Domains |
Protein: ENSMUSP00000113961 Gene: ENSMUSG00000048170 AA Change: Q214*
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: ENSMUST00000146352
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,748,997 (GRCm39) |
D1256G |
probably damaging |
Het |
Acot7 |
A |
T |
4: 152,345,353 (GRCm39) |
M308L |
probably benign |
Het |
Adarb2 |
A |
G |
13: 8,253,329 (GRCm39) |
R25G |
possibly damaging |
Het |
Ano1 |
C |
A |
7: 144,149,235 (GRCm39) |
Q875H |
probably damaging |
Het |
Ano6 |
G |
A |
15: 95,811,542 (GRCm39) |
|
probably null |
Het |
Defa40 |
C |
T |
8: 21,740,434 (GRCm39) |
T80I |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,523 (GRCm39) |
D455V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,088,022 (GRCm39) |
P354L |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,768,572 (GRCm39) |
H1454R |
probably damaging |
Het |
Esyt1 |
T |
A |
10: 128,355,660 (GRCm39) |
N421Y |
possibly damaging |
Het |
Gen1 |
T |
C |
12: 11,306,871 (GRCm39) |
T100A |
probably damaging |
Het |
Jak3 |
A |
T |
8: 72,137,810 (GRCm39) |
D780V |
probably damaging |
Het |
Klrb1a |
A |
G |
6: 128,595,008 (GRCm39) |
|
probably benign |
Het |
Lrp8 |
A |
G |
4: 107,721,273 (GRCm39) |
I826M |
probably benign |
Het |
Mtmr7 |
A |
T |
8: 41,050,388 (GRCm39) |
Y136N |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,140,151 (GRCm39) |
Y88H |
probably benign |
Het |
Nkx2-4 |
A |
G |
2: 146,926,260 (GRCm39) |
Y201H |
possibly damaging |
Het |
Or3a1d |
A |
G |
11: 74,237,486 (GRCm39) |
L308P |
probably damaging |
Het |
Or52n4b |
T |
A |
7: 108,143,933 (GRCm39) |
L65* |
probably null |
Het |
Or6c5 |
A |
T |
10: 129,074,476 (GRCm39) |
T153S |
probably benign |
Het |
Pigg |
T |
C |
5: 108,484,343 (GRCm39) |
L663P |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,741,917 (GRCm39) |
V343A |
probably damaging |
Het |
Plekha4 |
A |
G |
7: 45,187,659 (GRCm39) |
S244G |
probably damaging |
Het |
Prkce |
T |
A |
17: 86,932,890 (GRCm39) |
D623E |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,159,425 (GRCm39) |
|
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,433,499 (GRCm39) |
W419R |
probably damaging |
Het |
Rnaseh2b |
A |
G |
14: 62,602,706 (GRCm39) |
|
probably null |
Het |
Rras |
A |
G |
7: 44,670,709 (GRCm39) |
Y193C |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,592,164 (GRCm39) |
I997V |
probably damaging |
Het |
Sec31b |
A |
G |
19: 44,512,122 (GRCm39) |
F591L |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,059,610 (GRCm39) |
L232P |
probably benign |
Het |
Slc13a3 |
A |
T |
2: 165,248,700 (GRCm39) |
I526N |
probably damaging |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Snrnp25 |
A |
G |
11: 32,158,745 (GRCm39) |
|
probably benign |
Het |
Tex264 |
T |
C |
9: 106,539,607 (GRCm39) |
K201E |
possibly damaging |
Het |
Tgfb1 |
G |
T |
7: 25,387,442 (GRCm39) |
R50L |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
Tmed1 |
A |
T |
9: 21,421,338 (GRCm39) |
C45* |
probably null |
Het |
Tmem260 |
A |
G |
14: 48,749,415 (GRCm39) |
N638S |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,867,199 (GRCm39) |
E274G |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,272,802 (GRCm39) |
|
probably null |
Het |
Trim3 |
A |
T |
7: 105,266,676 (GRCm39) |
V502E |
probably damaging |
Het |
Trmo |
C |
T |
4: 46,377,053 (GRCm39) |
|
probably benign |
Het |
Xab2 |
C |
T |
8: 3,666,332 (GRCm39) |
R192Q |
probably benign |
Het |
|
Other mutations in Mcmbp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |