Incidental Mutation 'R2926:Mcmbp'
ID |
255762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcmbp
|
Ensembl Gene |
ENSMUSG00000048170 |
Gene Name |
minichromosome maintenance complex binding protein |
Synonyms |
1110007A13Rik |
MMRRC Submission |
040511-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2926 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
128298165-128342153 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 128299738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143952
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043138]
[ENSMUST00000057557]
[ENSMUST00000118605]
[ENSMUST00000119081]
[ENSMUST00000151237]
[ENSMUST00000202419]
|
AlphaFold |
Q8R3C0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043138
|
SMART Domains |
Protein: ENSMUSP00000045910 Gene: ENSMUSG00000042105
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
49 |
416 |
1.2e-85 |
PFAM |
Blast:IPPc
|
449 |
568 |
6e-13 |
BLAST |
Pfam:hSac2
|
590 |
698 |
9.1e-25 |
PFAM |
low complexity region
|
1042 |
1054 |
N/A |
INTRINSIC |
low complexity region
|
1059 |
1065 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057557
|
SMART Domains |
Protein: ENSMUSP00000062843 Gene: ENSMUSG00000048170
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 |
noncoding transcript
Transcript: ENSMUST00000118475
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118605
|
SMART Domains |
Protein: ENSMUSP00000113700 Gene: ENSMUSG00000042105
Domain | Start | End | E-Value | Type |
Pfam:hSac2
|
1 |
73 |
8.9e-21 |
PFAM |
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
low complexity region
|
432 |
438 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000119081
AA Change: T630M
|
SMART Domains |
Protein: ENSMUSP00000113961 Gene: ENSMUSG00000048170 AA Change: T630M
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140714
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142075
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202419
|
SMART Domains |
Protein: ENSMUSP00000143952 Gene: ENSMUSG00000042105
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
Pfam:VMA21
|
30 |
84 |
9.9e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (50/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
G |
T |
5: 124,216,902 (GRCm39) |
S438R |
possibly damaging |
Het |
Add3 |
A |
G |
19: 53,215,253 (GRCm39) |
|
probably null |
Het |
Adgrb2 |
T |
C |
4: 129,902,137 (GRCm39) |
L506P |
probably damaging |
Het |
Atp6v0a1 |
A |
T |
11: 100,934,774 (GRCm39) |
I621L |
probably damaging |
Het |
Calb1 |
T |
G |
4: 15,904,302 (GRCm39) |
L218R |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,437,203 (GRCm39) |
|
probably benign |
Het |
Ccser2 |
A |
T |
14: 36,601,518 (GRCm39) |
S842T |
possibly damaging |
Het |
Cd300a |
A |
G |
11: 114,784,139 (GRCm39) |
E49G |
possibly damaging |
Het |
Colec11 |
T |
A |
12: 28,667,428 (GRCm39) |
Q37L |
probably damaging |
Het |
D630045J12Rik |
T |
A |
6: 38,145,106 (GRCm39) |
I1307F |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,867,564 (GRCm39) |
V257A |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,550,338 (GRCm39) |
N3327I |
probably damaging |
Het |
Gja8 |
C |
T |
3: 96,826,469 (GRCm39) |
V398I |
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,022,148 (GRCm39) |
L179* |
probably null |
Het |
Hsd3b9 |
A |
G |
3: 98,357,872 (GRCm39) |
|
probably benign |
Het |
Ift88 |
T |
C |
14: 57,726,375 (GRCm39) |
Y678H |
probably damaging |
Het |
Itga10 |
A |
G |
3: 96,560,165 (GRCm39) |
N560D |
probably damaging |
Het |
Itpk1 |
G |
T |
12: 102,545,389 (GRCm39) |
P238Q |
probably damaging |
Het |
Kl |
T |
C |
5: 150,876,806 (GRCm39) |
W209R |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,954,828 (GRCm39) |
N1127S |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,423,982 (GRCm39) |
C830Y |
probably damaging |
Het |
Mrps33 |
A |
G |
6: 39,782,438 (GRCm39) |
S28P |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Myt1 |
C |
T |
2: 181,467,803 (GRCm39) |
T1079M |
possibly damaging |
Het |
N4bp1 |
A |
T |
8: 87,588,424 (GRCm39) |
Y171* |
probably null |
Het |
Ncln |
G |
T |
10: 81,324,272 (GRCm39) |
T442K |
probably benign |
Het |
Nphp4 |
T |
C |
4: 152,602,596 (GRCm39) |
V390A |
probably damaging |
Het |
Ntrk2 |
C |
A |
13: 59,208,098 (GRCm39) |
T648K |
probably damaging |
Het |
Nwd1 |
A |
G |
8: 73,393,640 (GRCm39) |
H301R |
probably damaging |
Het |
Or4k5 |
A |
T |
14: 50,385,893 (GRCm39) |
V146E |
probably benign |
Het |
Pcdh12 |
T |
C |
18: 38,415,443 (GRCm39) |
N561D |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 82,041,769 (GRCm39) |
S2134T |
probably damaging |
Het |
Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
Pramel3e |
G |
T |
X: 134,400,297 (GRCm39) |
A96S |
possibly damaging |
Het |
Prrc2c |
C |
T |
1: 162,533,696 (GRCm39) |
|
probably benign |
Het |
Rabggta |
C |
T |
14: 55,956,747 (GRCm39) |
R319H |
probably benign |
Het |
Scn10a |
A |
C |
9: 119,467,767 (GRCm39) |
F791C |
possibly damaging |
Het |
Stab1 |
T |
A |
14: 30,883,756 (GRCm39) |
D267V |
probably damaging |
Het |
Sva |
A |
T |
6: 42,019,596 (GRCm39) |
Y152F |
possibly damaging |
Het |
Tgfbrap1 |
T |
G |
1: 43,114,789 (GRCm39) |
M104L |
probably damaging |
Het |
Tmed4 |
T |
C |
11: 6,221,728 (GRCm39) |
T203A |
probably benign |
Het |
Toe1 |
C |
T |
4: 116,662,177 (GRCm39) |
A331T |
possibly damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,700,329 (GRCm39) |
|
probably benign |
Het |
Ttll7 |
C |
T |
3: 146,636,170 (GRCm39) |
R438* |
probably null |
Het |
Usp11 |
G |
T |
X: 20,584,031 (GRCm39) |
G601W |
probably damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,833,984 (GRCm39) |
T551A |
possibly damaging |
Het |
Vmn2r73 |
T |
C |
7: 85,520,871 (GRCm39) |
K366E |
probably benign |
Het |
Vps33a |
A |
G |
5: 123,707,634 (GRCm39) |
I111T |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGCAGATGACAGATGCAG -3'
(R):5'- AAATCAAGTCTGGTGACACCTAAAG -3'
Sequencing Primer
(F):5'- GTGGTCTTCACAAAGCTGC -3'
(R):5'- GTCTGGTGACACCTAAAGTTTATATG -3'
|
Posted On |
2014-12-29 |