Incidental Mutation 'R9527:Mcmbp'
| ID |
719312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcmbp
|
| Ensembl Gene |
ENSMUSG00000048170 |
| Gene Name |
minichromosome maintenance complex binding protein |
| Synonyms |
1110007A13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
128298165-128342153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128305242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 509
(S509P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057557]
[ENSMUST00000119081]
|
| AlphaFold |
Q8R3C0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057557
AA Change: S509P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: S509P
| 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 damaging
Transcript: ENSMUST00000119081
AA Change: S509P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: S509P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCM_bind
|
36 |
588 |
3.6e-210 |
PFAM |
|
low complexity region
|
603 |
623 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,886,284 (GRCm39) |
D453G |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,932,037 (GRCm39) |
S1443R |
probably benign |
Het |
| Atr |
T |
C |
9: 95,767,429 (GRCm39) |
M1162T |
probably damaging |
Het |
| Bicdl1 |
T |
A |
5: 115,811,188 (GRCm39) |
N241I |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,401,637 (GRCm39) |
N38S |
probably benign |
Het |
| Cct6b |
A |
G |
11: 82,630,447 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,453,792 (GRCm39) |
R72* |
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,120 (GRCm39) |
Q335R |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,899,528 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,544,875 (GRCm39) |
N55D |
unknown |
Het |
| Dnajc5b |
A |
T |
3: 19,633,248 (GRCm39) |
D157V |
probably damaging |
Het |
| Exoc6 |
T |
G |
19: 37,558,987 (GRCm39) |
D86E |
probably benign |
Het |
| Fam204a |
A |
T |
19: 60,208,992 (GRCm39) |
H87Q |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,617 (GRCm39) |
W1388R |
probably damaging |
Het |
| Hcn2 |
A |
T |
10: 79,570,706 (GRCm39) |
I642F |
probably benign |
Het |
| Igsf9 |
C |
A |
1: 172,323,244 (GRCm39) |
L653M |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,481,991 (GRCm39) |
E38G |
probably benign |
Het |
| Kirrel1 |
C |
A |
3: 86,996,912 (GRCm39) |
E297* |
probably null |
Het |
| Krt82 |
G |
A |
15: 101,454,558 (GRCm39) |
T222I |
probably benign |
Het |
| Lysmd1 |
T |
C |
3: 95,042,156 (GRCm39) |
L10P |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,952,830 (GRCm39) |
I93N |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,011,345 (GRCm39) |
F402L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,453,098 (GRCm39) |
R49C |
|
Het |
| Scd3 |
T |
C |
19: 44,226,816 (GRCm39) |
Y217H |
probably benign |
Het |
| Snx17 |
T |
C |
5: 31,353,826 (GRCm39) |
Y205H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,970,777 (GRCm39) |
D1320E |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,191 (GRCm39) |
S539T |
possibly damaging |
Het |
| Xirp1 |
C |
A |
9: 119,847,558 (GRCm39) |
V442L |
probably damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,369,091 (GRCm39) |
R315H |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,989,652 (GRCm39) |
C56S |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,330,913 (GRCm39) |
C82F |
probably damaging |
Het |
| Zfp787 |
A |
G |
7: 6,136,027 (GRCm39) |
F75L |
probably damaging |
Het |
| Zswim3 |
C |
T |
2: 164,662,285 (GRCm39) |
T255I |
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 |
|
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 |
|
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'- GCTGGTTCTTGACAGTTACAC -3'
(R):5'- TAAGATTGCTGGCTCCTGTG -3'
Sequencing Primer
(F):5'- GATAGGCAAATGTTCTCCCACTGAG -3'
(R):5'- CTGTGTCTTTTATCTAAGCAGCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation