Incidental Mutation 'R0319:Anapc5'
ID |
25537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anapc5
|
Ensembl Gene |
ENSMUSG00000029472 |
Gene Name |
anaphase-promoting complex subunit 5 |
Synonyms |
2510006G12Rik |
MMRRC Submission |
038529-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
R0319 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
122925522-122959402 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122956919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086216]
[ENSMUST00000196423]
[ENSMUST00000196640]
[ENSMUST00000197074]
[ENSMUST00000199406]
[ENSMUST00000197719]
[ENSMUST00000200645]
[ENSMUST00000199926]
|
AlphaFold |
Q8BTZ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086216
AA Change: V120A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000083393 Gene: ENSMUSG00000029472 AA Change: V120A
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 |
possibly damaging
Transcript: ENSMUST00000196423
AA Change: V120A
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143169 Gene: ENSMUSG00000029472 AA Change: V120A
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
Pfam:Apc5
|
239 |
339 |
1.9e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196640
AA Change: V120A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142429 Gene: ENSMUSG00000029472 AA Change: V120A
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 |
probably damaging
Transcript: ENSMUST00000197074
AA Change: V120A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143053 Gene: ENSMUSG00000029472 AA Change: V120A
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 |
noncoding transcript
Transcript: ENSMUST00000197331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197554
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199406
AA Change: V120A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142341 Gene: ENSMUSG00000029472 AA Change: V120A
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 damaging
Transcript: ENSMUST00000197719
AA Change: V120A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142579 Gene: ENSMUSG00000029472 AA Change: V120A
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 |
probably damaging
Transcript: ENSMUST00000200645
AA Change: V120A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142922 Gene: ENSMUSG00000029472 AA Change: V120A
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 |
noncoding transcript
Transcript: ENSMUST00000200058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200415
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199926
|
SMART Domains |
Protein: ENSMUSP00000142981 Gene: ENSMUSG00000029472
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3677 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
Validation Efficiency |
100% (58/58) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
C |
7: 127,836,362 (GRCm39) |
V77G |
probably benign |
Het |
Abcb1b |
A |
G |
5: 8,877,428 (GRCm39) |
R663G |
probably benign |
Het |
Acly |
A |
G |
11: 100,395,808 (GRCm39) |
V404A |
probably damaging |
Het |
Actg2 |
T |
A |
6: 83,497,725 (GRCm39) |
I103F |
probably damaging |
Het |
Ankk1 |
T |
G |
9: 49,327,371 (GRCm39) |
T603P |
probably damaging |
Het |
Ankmy2 |
T |
C |
12: 36,215,898 (GRCm39) |
S33P |
possibly damaging |
Het |
Arhgef19 |
A |
T |
4: 140,983,710 (GRCm39) |
T748S |
possibly damaging |
Het |
Atad5 |
T |
A |
11: 80,011,616 (GRCm39) |
|
probably benign |
Het |
Atxn10 |
T |
C |
15: 85,249,483 (GRCm39) |
L105P |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 135,998,455 (GRCm39) |
V161A |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,735,426 (GRCm39) |
E741G |
possibly damaging |
Het |
Cpne9 |
G |
A |
6: 113,271,654 (GRCm39) |
G338E |
probably damaging |
Het |
Cyp3a13 |
G |
A |
5: 137,897,124 (GRCm39) |
P397S |
probably damaging |
Het |
Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
Draxin |
A |
G |
4: 148,200,429 (GRCm39) |
L7P |
probably benign |
Het |
Exosc7 |
T |
A |
9: 122,960,025 (GRCm39) |
|
probably benign |
Het |
Far2 |
A |
G |
6: 148,058,968 (GRCm39) |
E218G |
probably damaging |
Het |
Ggps1 |
A |
C |
13: 14,228,462 (GRCm39) |
N240K |
possibly damaging |
Het |
Kcnip1 |
T |
C |
11: 33,601,529 (GRCm39) |
|
probably benign |
Het |
Kcnv2 |
A |
T |
19: 27,301,424 (GRCm39) |
Y425F |
probably benign |
Het |
Kdelr2 |
T |
A |
5: 143,398,272 (GRCm39) |
F40I |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,207,195 (GRCm39) |
P173L |
probably benign |
Het |
Kif20b |
G |
A |
19: 34,925,132 (GRCm39) |
|
probably benign |
Het |
Klhl9 |
A |
T |
4: 88,638,691 (GRCm39) |
Y517N |
possibly damaging |
Het |
Lgals3bp |
A |
G |
11: 118,284,347 (GRCm39) |
S411P |
probably damaging |
Het |
Lmo3 |
G |
A |
6: 138,354,309 (GRCm39) |
T85M |
probably damaging |
Het |
Lvrn |
C |
A |
18: 46,997,820 (GRCm39) |
T256N |
probably damaging |
Het |
Malt1 |
T |
C |
18: 65,595,986 (GRCm39) |
|
probably null |
Het |
Mgst1 |
A |
G |
6: 138,133,155 (GRCm39) |
I157V |
possibly damaging |
Het |
Mob3a |
A |
T |
10: 80,525,819 (GRCm39) |
V164E |
possibly damaging |
Het |
Mprip |
T |
A |
11: 59,587,864 (GRCm39) |
|
probably benign |
Het |
Mst1 |
A |
G |
9: 107,959,712 (GRCm39) |
N276S |
probably benign |
Het |
Or5an1b |
A |
T |
19: 12,299,680 (GRCm39) |
C170* |
probably null |
Het |
P3h2 |
T |
A |
16: 25,789,681 (GRCm39) |
I529F |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,285,490 (GRCm39) |
S865T |
probably benign |
Het |
Rcbtb2 |
G |
A |
14: 73,415,909 (GRCm39) |
R474Q |
probably benign |
Het |
Rpl27 |
G |
A |
11: 101,334,321 (GRCm39) |
|
probably benign |
Het |
Rtp1 |
G |
A |
16: 23,250,210 (GRCm39) |
E192K |
probably damaging |
Het |
Sgk2 |
T |
C |
2: 162,837,592 (GRCm39) |
|
probably benign |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc49a4 |
T |
C |
16: 35,570,884 (GRCm39) |
D140G |
probably benign |
Het |
Spdl1 |
T |
C |
11: 34,714,347 (GRCm39) |
N114S |
possibly damaging |
Het |
Syne2 |
C |
T |
12: 76,110,936 (GRCm39) |
R5756W |
probably damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,882,927 (GRCm39) |
E307G |
probably damaging |
Het |
Tpd52 |
T |
C |
3: 9,018,749 (GRCm39) |
T44A |
probably benign |
Het |
Trim67 |
A |
T |
8: 125,549,966 (GRCm39) |
Y532F |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,842,018 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 188,680,571 (GRCm39) |
|
probably benign |
Het |
Vcam1 |
T |
C |
3: 115,909,709 (GRCm39) |
I539M |
probably benign |
Het |
Vmn1r19 |
T |
A |
6: 57,381,600 (GRCm39) |
M51K |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,949,941 (GRCm39) |
M787K |
probably damaging |
Het |
Xdh |
T |
A |
17: 74,213,096 (GRCm39) |
|
probably benign |
Het |
Zfp109 |
A |
T |
7: 23,933,895 (GRCm39) |
V8E |
probably damaging |
Het |
Zfp595 |
G |
A |
13: 67,464,577 (GRCm39) |
A562V |
possibly damaging |
Het |
Zfp759 |
A |
G |
13: 67,288,356 (GRCm39) |
T636A |
probably benign |
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 |
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 |
R4533:Anapc5
|
UTSW |
5 |
122,929,798 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- ACTGTGAAAAGAGCTGAGCGACCC -3'
(R):5'- TGTGCAGCGAGCCTTCCTAAAC -3'
Sequencing Primer
(F):5'- CTACTCCAGGAGAACAGAGCTG -3'
(R):5'- AAACCATGCATCCCGATTTTC -3'
|
Posted On |
2013-04-16 |