Incidental Mutation 'R4533:Anapc5'
| ID |
333193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc5
|
| Ensembl Gene |
ENSMUSG00000029472 |
| Gene Name |
anaphase-promoting complex subunit 5 |
| Synonyms |
2510006G12Rik |
| MMRRC Submission |
041773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R4533 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122925522-122959402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122929798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 561
(E561G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086216]
[ENSMUST00000196423]
[ENSMUST00000196640]
[ENSMUST00000197074]
[ENSMUST00000197719]
[ENSMUST00000200645]
[ENSMUST00000199406]
|
| AlphaFold |
Q8BTZ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086216
AA Change: E574G
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: E574G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Pfam:ANAPC5
|
239 |
339 |
3.5e-34 |
PFAM |
|
Pfam:ANAPC5
|
383 |
478 |
3.1e-3 |
PFAM |
|
Blast:TPR
|
526 |
559 |
8e-12 |
BLAST |
|
Blast:TPR
|
566 |
599 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196423
|
| SMART Domains |
Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Pfam:Apc5
|
239 |
339 |
1.9e-31 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196640
AA Change: E574G
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: E574G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Pfam:Apc5
|
239 |
339 |
4.8e-31 |
PFAM |
|
Pfam:Apc5
|
383 |
478 |
5.1e0 |
PFAM |
|
Blast:TPR
|
526 |
559 |
7e-12 |
BLAST |
|
Blast:TPR
|
566 |
599 |
5e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196753
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197074
AA Change: E566G
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: E566G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Pfam:Apc5
|
239 |
339 |
3.9e-34 |
PFAM |
|
Pfam:Apc5
|
375 |
470 |
4.1e-3 |
PFAM |
|
Blast:TPR
|
518 |
551 |
7e-12 |
BLAST |
|
Blast:TPR
|
558 |
591 |
5e-9 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197719
AA Change: E561G
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: E561G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Pfam:Apc5
|
239 |
339 |
4.7e-31 |
PFAM |
|
Pfam:Apc5
|
370 |
465 |
5e0 |
PFAM |
|
Blast:TPR
|
513 |
546 |
7e-12 |
BLAST |
|
Blast:TPR
|
553 |
586 |
5e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199025
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200645
AA Change: E561G
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: E561G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Pfam:Apc5
|
239 |
339 |
3.9e-34 |
PFAM |
|
Pfam:Apc5
|
370 |
465 |
4.1e-3 |
PFAM |
|
Blast:TPR
|
513 |
546 |
7e-12 |
BLAST |
|
Blast:TPR
|
553 |
586 |
5e-9 |
BLAST |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000199406
|
| SMART Domains |
Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Pfam:Apc5
|
239 |
339 |
4.1e-31 |
PFAM |
|
Pfam:TPR_10
|
287 |
322 |
2.7e-1 |
PFAM |
|
Pfam:Apc5
|
383 |
478 |
4.4e0 |
PFAM |
|
Pfam:TPR_10
|
533 |
577 |
2e-1 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199130
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199191
|
| Meta Mutation Damage Score |
0.3007 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,062,761 (GRCm39) |
Y405C |
probably damaging |
Het |
| Ago3 |
A |
T |
4: 126,239,356 (GRCm39) |
S832T |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Art5 |
T |
C |
7: 101,747,545 (GRCm39) |
H78R |
probably benign |
Het |
| Blvra |
T |
A |
2: 126,932,304 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
G |
4: 83,575,579 (GRCm39) |
T488A |
possibly damaging |
Het |
| Crtc3 |
A |
T |
7: 80,239,543 (GRCm39) |
M603K |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,981,037 (GRCm39) |
|
probably null |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm7356 |
A |
C |
17: 14,221,672 (GRCm39) |
I119R |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,449,392 (GRCm39) |
D1963E |
probably benign |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,147 (GRCm39) |
V21D |
probably damaging |
Het |
| Itga3 |
T |
G |
11: 94,948,119 (GRCm39) |
Q602P |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,826,574 (GRCm39) |
R152C |
probably damaging |
Het |
| Lin54 |
T |
C |
5: 100,633,262 (GRCm39) |
I141V |
possibly damaging |
Het |
| Mast1 |
T |
A |
8: 85,647,990 (GRCm39) |
H497L |
probably damaging |
Het |
| Mrpl44 |
T |
C |
1: 79,753,971 (GRCm39) |
F41S |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,840,891 (GRCm39) |
R2301G |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,460,247 (GRCm39) |
M58L |
possibly damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,156 (GRCm39) |
|
probably null |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,831,371 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,108,460 (GRCm39) |
V495A |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,933,640 (GRCm39) |
E895G |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,516,057 (GRCm39) |
E770G |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,727,257 (GRCm39) |
S377F |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,270,299 (GRCm39) |
D1266N |
probably damaging |
Het |
| Raly |
A |
T |
2: 154,707,853 (GRCm39) |
E291V |
probably damaging |
Het |
| Rnf217 |
C |
A |
10: 31,484,759 (GRCm39) |
C141F |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,714 (GRCm39) |
M914V |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,547 (GRCm39) |
T1035A |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,655 (GRCm39) |
R36* |
probably null |
Het |
| Tiparp |
A |
G |
3: 65,453,768 (GRCm39) |
D172G |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,970,994 (GRCm39) |
I466N |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,772,963 (GRCm39) |
T426A |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,756 (GRCm39) |
H177Q |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vwc2l |
G |
A |
1: 70,921,298 (GRCm39) |
C151Y |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,117,354 (GRCm39) |
Y414C |
probably benign |
Het |
| Zfp609 |
A |
C |
9: 65,610,890 (GRCm39) |
V691G |
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,646,084 (GRCm39) |
Y254H |
probably damaging |
Het |
|
| Other mutations in Anapc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02209:Anapc5
|
APN |
5 |
122,938,676 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03158:Anapc5
|
APN |
5 |
122,955,960 (GRCm39) |
missense |
probably benign |
|
|
R0137:Anapc5
|
UTSW |
5 |
122,938,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:Anapc5
|
UTSW |
5 |
122,956,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0326:Anapc5
|
UTSW |
5 |
122,952,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0399:Anapc5
|
UTSW |
5 |
122,929,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0633:Anapc5
|
UTSW |
5 |
122,938,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Anapc5
|
UTSW |
5 |
122,926,481 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1723:Anapc5
|
UTSW |
5 |
122,937,406 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2018:Anapc5
|
UTSW |
5 |
122,938,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Anapc5
|
UTSW |
5 |
122,926,001 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4211:Anapc5
|
UTSW |
5 |
122,955,968 (GRCm39) |
missense |
probably benign |
|
|
R4287:Anapc5
|
UTSW |
5 |
122,938,664 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4905:Anapc5
|
UTSW |
5 |
122,955,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5336:Anapc5
|
UTSW |
5 |
122,945,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Anapc5
|
UTSW |
5 |
122,926,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Anapc5
|
UTSW |
5 |
122,929,988 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6481:Anapc5
|
UTSW |
5 |
122,938,607 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7461:Anapc5
|
UTSW |
5 |
122,956,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Anapc5
|
UTSW |
5 |
122,956,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Anapc5
|
UTSW |
5 |
122,940,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7912:Anapc5
|
UTSW |
5 |
122,931,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8007:Anapc5
|
UTSW |
5 |
122,929,963 (GRCm39) |
missense |
probably benign |
|
|
R8080:Anapc5
|
UTSW |
5 |
122,945,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Anapc5
|
UTSW |
5 |
122,956,033 (GRCm39) |
makesense |
probably null |
|
|
R8517:Anapc5
|
UTSW |
5 |
122,959,093 (GRCm39) |
missense |
probably benign |
|
|
R9036:Anapc5
|
UTSW |
5 |
122,957,716 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9464:Anapc5
|
UTSW |
5 |
122,940,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9471:Anapc5
|
UTSW |
5 |
122,944,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGGCTTCCACATGCAC -3'
(R):5'- TGCAGGCTCAGAACCAAATGAC -3'
Sequencing Primer
(F):5'- TTCCACATGCACCCCATAAACATAG -3'
(R):5'- GCTCAGAACCAAATGACAGAGGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation