Incidental Mutation 'R7681:Anapc5'
| ID |
592750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc5
|
| Ensembl Gene |
ENSMUSG00000029472 |
| Gene Name |
anaphase-promoting complex subunit 5 |
| Synonyms |
2510006G12Rik |
| MMRRC Submission |
045747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R7681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122925522-122959402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122940202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 356
(F356L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086216]
[ENSMUST00000196423]
[ENSMUST00000196640]
[ENSMUST00000197074]
[ENSMUST00000197719]
[ENSMUST00000199406]
[ENSMUST00000200645]
|
| AlphaFold |
Q8BTZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086216
AA Change: F356L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: F356L
| 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: F356L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472
AA Change: F356L
| 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 benign
Transcript: ENSMUST00000196640
AA Change: F356L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: F356L
| 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 benign
Transcript: ENSMUST00000197074
AA Change: F356L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: F356L
| 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 |
probably benign
Transcript: ENSMUST00000197719
AA Change: F356L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: F356L
| 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 benign
Transcript: ENSMUST00000199406
AA Change: F356L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: F356L
| 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: ENSMUST00000200148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200645
AA Change: F356L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: F356L
| 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 |
|
| Meta Mutation Damage Score |
0.2021 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (58/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,899,619 (GRCm39) |
A963V |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,094,649 (GRCm39) |
V760A |
unknown |
Het |
| Akap13 |
T |
C |
7: 75,378,544 (GRCm39) |
F347L |
possibly damaging |
Het |
| Bmp6 |
A |
G |
13: 38,530,171 (GRCm39) |
H88R |
probably damaging |
Het |
| Cblb |
C |
A |
16: 52,025,001 (GRCm39) |
S921R |
probably damaging |
Het |
| Ccs |
T |
A |
19: 4,882,858 (GRCm39) |
|
probably null |
Het |
| Cyp20a1 |
A |
G |
1: 60,392,192 (GRCm39) |
T83A |
probably benign |
Het |
| Defa25 |
T |
A |
8: 21,574,535 (GRCm39) |
D26E |
probably benign |
Het |
| Dmwd |
T |
A |
7: 18,815,007 (GRCm39) |
N552K |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,916,012 (GRCm39) |
V4297M |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,106,996 (GRCm39) |
S47R |
probably benign |
Het |
| Fbxo41 |
A |
T |
6: 85,455,461 (GRCm39) |
C574* |
probably null |
Het |
| Fgb |
T |
C |
3: 82,957,139 (GRCm39) |
|
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,045,677 (GRCm39) |
T82I |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,123,095 (GRCm39) |
L262M |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,637,413 (GRCm39) |
Q380L |
probably damaging |
Het |
| Glp2r |
C |
T |
11: 67,600,505 (GRCm39) |
G448D |
probably benign |
Het |
| Gnb4 |
C |
A |
3: 32,641,902 (GRCm39) |
A242S |
possibly damaging |
Het |
| Golim4 |
T |
C |
3: 75,794,331 (GRCm39) |
|
probably null |
Het |
| Grik2 |
G |
T |
10: 49,120,476 (GRCm39) |
N604K |
probably damaging |
Het |
| Hnf1b |
T |
G |
11: 83,779,972 (GRCm39) |
I435S |
probably damaging |
Het |
| Hoxa11 |
C |
T |
6: 52,222,099 (GRCm39) |
G201S |
probably benign |
Het |
| Hpse |
A |
G |
5: 100,839,257 (GRCm39) |
S364P |
possibly damaging |
Het |
| Kif16b |
A |
T |
2: 142,598,046 (GRCm39) |
N525K |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,982,666 (GRCm39) |
C704S |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,303,354 (GRCm39) |
S322P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,765,011 (GRCm39) |
C2938* |
probably null |
Het |
| Malrd1 |
A |
G |
2: 16,222,913 (GRCm39) |
R2071G |
unknown |
Het |
| Man2a2 |
T |
A |
7: 80,001,497 (GRCm39) |
I1137F |
possibly damaging |
Het |
| Map2k6 |
C |
T |
11: 110,388,729 (GRCm39) |
R224* |
probably null |
Het |
| Map3k4 |
G |
A |
17: 12,537,430 (GRCm39) |
P29L |
unknown |
Het |
| Morn5 |
A |
T |
2: 35,947,156 (GRCm39) |
N145Y |
possibly damaging |
Het |
| Muc20 |
T |
C |
16: 32,613,989 (GRCm39) |
T463A |
probably benign |
Het |
| Myh10 |
C |
T |
11: 68,662,762 (GRCm39) |
T642I |
probably damaging |
Het |
| Myh14 |
C |
A |
7: 44,273,572 (GRCm39) |
R1362L |
possibly damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,711 (GRCm39) |
V23L |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,761 (GRCm39) |
I106V |
probably benign |
Het |
| Or4c116 |
A |
C |
2: 88,941,935 (GRCm39) |
V307G |
probably benign |
Het |
| Or5p56 |
T |
C |
7: 107,590,355 (GRCm39) |
M261T |
possibly damaging |
Het |
| Pabpn1 |
T |
C |
14: 55,135,499 (GRCm39) |
Y299H |
probably damaging |
Het |
| Pak4 |
T |
C |
7: 28,259,655 (GRCm39) |
E514G |
probably damaging |
Het |
| Ppp1r12b |
A |
C |
1: 134,793,673 (GRCm39) |
S564A |
probably benign |
Het |
| Psmc2 |
T |
C |
5: 22,008,272 (GRCm39) |
|
probably null |
Het |
| Psme4 |
A |
G |
11: 30,741,975 (GRCm39) |
Y146C |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,310,547 (GRCm39) |
D315G |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,668,976 (GRCm39) |
V24A |
possibly damaging |
Het |
| Rtel1 |
A |
T |
2: 180,964,187 (GRCm39) |
H62L |
probably damaging |
Het |
| Ruvbl1 |
G |
A |
6: 88,444,635 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,359,043 (GRCm39) |
V668A |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,603,493 (GRCm39) |
G519E |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,454,499 (GRCm39) |
I348N |
probably benign |
Het |
| Slc6a16 |
T |
A |
7: 44,910,338 (GRCm39) |
L347Q |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,822,531 (GRCm39) |
L658H |
probably damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,856,290 (GRCm39) |
P643S |
possibly damaging |
Het |
| Spidr |
C |
A |
16: 15,713,488 (GRCm39) |
G832W |
probably damaging |
Het |
| Ssrp1 |
G |
A |
2: 84,876,092 (GRCm39) |
G616E |
probably benign |
Het |
| Sult1b1 |
G |
A |
5: 87,678,495 (GRCm39) |
L110F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,834,235 (GRCm39) |
H224L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,295 (GRCm39) |
E34564K |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,237,618 (GRCm39) |
D1285G |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,101,664 (GRCm39) |
E555G |
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 |
|
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 |
|
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 |
|
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'- CTACCCAACAGAATTTAGTGGTG -3'
(R):5'- AACGGGTTTCATAGCACAGTATTG -3'
Sequencing Primer
(F):5'- CGGTTCATGACAAAGGTG -3'
(R):5'- TTCATAGCACAGTATTGTAGAGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation