Incidental Mutation 'R4287:Anapc5'
| ID |
322059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc5
|
| Ensembl Gene |
ENSMUSG00000029472 |
| Gene Name |
anaphase-promoting complex subunit 5 |
| Synonyms |
|
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122787459-122821339 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122800601 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 362
(V362A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143053
(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: V370A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: V370A
| 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 |
probably benign
Transcript: ENSMUST00000196640
AA Change: V370A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: V370A
| 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 |
probably benign
Transcript: ENSMUST00000197074
AA Change: V362A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: V362A
| 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: ENSMUST00000197554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197719
|
| SMART Domains |
Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
| 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 |
probably benign
Transcript: ENSMUST00000199406
AA Change: V370A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: V370A
| 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 |
noncoding transcript
Transcript: ENSMUST00000200219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200645
|
| SMART Domains |
Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
| 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 |
0.1341 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
A |
3: 89,066,415 |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,418 |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,654,027 |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 155,091,360 |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,845,232 |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,400,398 |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,349,545 |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,724,840 |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,056,846 |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,334,302 |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,777,435 |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,255,298 |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 102,023,463 |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,063,673 |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,552,691 |
I107V |
probably benign |
Het |
| Olfr186 |
A |
T |
16: 59,027,613 |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,072,170 |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,861,422 |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,725,009 |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 37,931,931 |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,546,215 |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,546,223 |
R234C |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,777,333 |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,859,061 |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,640,922 |
H310L |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,891,458 |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,704,898 |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 57,140,622 |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 30,988,065 |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,714,674 |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 28,719,796 |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 18,948,075 |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,611,938 |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,892,518 |
|
probably null |
Het |
|
| Other mutations in Anapc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02209:Anapc5
|
APN |
5 |
122800613 |
missense |
possibly damaging |
0.95 |
|
IGL03158:Anapc5
|
APN |
5 |
122817897 |
missense |
probably benign |
|
|
R0137:Anapc5
|
UTSW |
5 |
122800632 |
missense |
probably damaging |
1.00 |
|
R0319:Anapc5
|
UTSW |
5 |
122818856 |
missense |
probably damaging |
0.99 |
|
R0326:Anapc5
|
UTSW |
5 |
122814604 |
missense |
probably benign |
0.40 |
|
R0399:Anapc5
|
UTSW |
5 |
122791753 |
missense |
probably damaging |
0.99 |
|
R0633:Anapc5
|
UTSW |
5 |
122800632 |
missense |
probably damaging |
1.00 |
|
R1173:Anapc5
|
UTSW |
5 |
122788418 |
missense |
possibly damaging |
0.49 |
|
R1723:Anapc5
|
UTSW |
5 |
122799343 |
missense |
probably damaging |
0.96 |
|
R2018:Anapc5
|
UTSW |
5 |
122800524 |
missense |
probably damaging |
1.00 |
|
R2114:Anapc5
|
UTSW |
5 |
122787938 |
missense |
probably benign |
0.06 |
|
R4211:Anapc5
|
UTSW |
5 |
122817905 |
missense |
probably benign |
|
|
R4533:Anapc5
|
UTSW |
5 |
122791735 |
missense |
possibly damaging |
0.86 |
|
R4905:Anapc5
|
UTSW |
5 |
122817910 |
missense |
probably benign |
0.00 |
|
R5336:Anapc5
|
UTSW |
5 |
122807337 |
missense |
probably damaging |
1.00 |
|
R5499:Anapc5
|
UTSW |
5 |
122788413 |
missense |
probably damaging |
1.00 |
|
R5568:Anapc5
|
UTSW |
5 |
122791925 |
utr 3 prime |
probably benign |
|
|
R6481:Anapc5
|
UTSW |
5 |
122800544 |
missense |
probably benign |
0.27 |
|
R7461:Anapc5
|
UTSW |
5 |
122818865 |
missense |
probably damaging |
1.00 |
|
R7613:Anapc5
|
UTSW |
5 |
122818865 |
missense |
probably damaging |
1.00 |
|
R7681:Anapc5
|
UTSW |
5 |
122802139 |
missense |
probably benign |
0.01 |
|
R7912:Anapc5
|
UTSW |
5 |
122793435 |
critical splice donor site |
probably null |
|
|
R8007:Anapc5
|
UTSW |
5 |
122791900 |
missense |
probably benign |
|
|
R8080:Anapc5
|
UTSW |
5 |
122807338 |
missense |
probably damaging |
1.00 |
|
R8488:Anapc5
|
UTSW |
5 |
122817970 |
makesense |
probably null |
|
|
R8517:Anapc5
|
UTSW |
5 |
122821030 |
missense |
probably benign |
|
|
R9036:Anapc5
|
UTSW |
5 |
122819653 |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCATTTCCATAGCGCCTG -3'
(R):5'- GCTGAGGTCAGGTCATAGGTTC -3'
Sequencing Primer
(F):5'- GCGCCTGCTTCTCTCTAAAGG -3'
(R):5'- CAGGTCATAGGTTCTTTAAGTAGAGC -3'
|
| Posted On |
2015-06-20 |
