Incidental Mutation 'R8517:Anapc5'
| ID |
656202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc5
|
| Ensembl Gene |
ENSMUSG00000029472 |
| Gene Name |
anaphase-promoting complex subunit 5 |
| Synonyms |
2510006G12Rik |
| MMRRC Submission |
067849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R8517 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
122925522-122959402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122959093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 41
(S41G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086216]
[ENSMUST00000196423]
[ENSMUST00000196640]
[ENSMUST00000197074]
[ENSMUST00000197719]
[ENSMUST00000199406]
[ENSMUST00000199926]
[ENSMUST00000200645]
|
| AlphaFold |
Q8BTZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086216
AA Change: S41G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: S41G
| 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
AA Change: S41G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472
AA Change: S41G
| 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: S41G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: S41G
| 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: S41G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: S41G
| 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: S41G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: S41G
| 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 |
possibly damaging
Transcript: ENSMUST00000199406
AA Change: S41G
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: S41G
| 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: ENSMUST00000199926
AA Change: S41G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142981
Gene: ENSMUSG00000029472
AA Change: S41G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200645
AA Change: S41G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: S41G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,861,206 (GRCm39) |
D131E |
probably damaging |
Het |
| Abca17 |
C |
A |
17: 24,536,207 (GRCm39) |
V487F |
probably benign |
Het |
| Aoc1 |
C |
T |
6: 48,883,644 (GRCm39) |
Q507* |
probably null |
Het |
| Ccdc171 |
G |
A |
4: 83,661,298 (GRCm39) |
R1136H |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,460,012 (GRCm39) |
D413G |
probably benign |
Het |
| Copz2 |
A |
G |
11: 96,744,309 (GRCm39) |
K74E |
possibly damaging |
Het |
| Cpsf4l |
C |
A |
11: 113,599,651 (GRCm39) |
A45S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,838,207 (GRCm39) |
I710V |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,446,479 (GRCm39) |
R3348Q |
|
Het |
| Dchs2 |
A |
G |
3: 83,178,419 (GRCm39) |
I1157M |
probably damaging |
Het |
| Dcst1 |
A |
G |
3: 89,272,455 (GRCm39) |
F3L |
probably benign |
Het |
| Dennd5b |
A |
C |
6: 148,930,619 (GRCm39) |
C743G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,155,440 (GRCm39) |
E725G |
probably benign |
Het |
| Dnajc3 |
G |
T |
14: 119,190,589 (GRCm39) |
G51* |
probably null |
Het |
| Dyrk2 |
T |
C |
10: 118,696,926 (GRCm39) |
T111A |
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,822 (GRCm39) |
F206I |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,062,565 (GRCm39) |
S176R |
probably benign |
Het |
| Farsb |
A |
T |
1: 78,439,933 (GRCm39) |
L313* |
probably null |
Het |
| Fbh1 |
A |
G |
2: 11,782,241 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
G |
A |
16: 16,240,509 (GRCm39) |
T740I |
probably benign |
Het |
| Gprc6a |
G |
T |
10: 51,507,337 (GRCm39) |
A64D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,253,723 (GRCm39) |
V1365E |
probably damaging |
Het |
| Hdc |
C |
G |
2: 126,439,890 (GRCm39) |
|
probably null |
Het |
| Igkv5-39 |
T |
G |
6: 69,877,553 (GRCm39) |
I68L |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,531,636 (GRCm39) |
V425D |
probably damaging |
Het |
| Kcnj12 |
T |
C |
11: 60,960,199 (GRCm39) |
S166P |
probably benign |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,524 (GRCm39) |
C293* |
probably null |
Het |
| Map7 |
T |
C |
10: 20,137,581 (GRCm39) |
V251A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,100,244 (GRCm39) |
L1597M |
possibly damaging |
Het |
| Nmu |
T |
C |
5: 76,493,326 (GRCm39) |
E82G |
possibly damaging |
Het |
| Nup85 |
T |
C |
11: 115,455,390 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
G |
5: 63,948,925 (GRCm39) |
N166D |
probably damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,681 (GRCm39) |
H274L |
possibly damaging |
Het |
| Pbrm1 |
C |
A |
14: 30,789,739 (GRCm39) |
D784E |
probably benign |
Het |
| Pcdhgb1 |
T |
A |
18: 37,815,117 (GRCm39) |
M536K |
possibly damaging |
Het |
| Pml |
T |
A |
9: 58,127,651 (GRCm39) |
Q698L |
possibly damaging |
Het |
| Pon1 |
T |
C |
6: 5,171,769 (GRCm39) |
Y294C |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,973,849 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
A |
1: 22,522,246 (GRCm39) |
H484L |
probably damaging |
Het |
| Rpia |
C |
A |
6: 70,743,630 (GRCm39) |
V274L |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,225 (GRCm39) |
L424P |
probably damaging |
Het |
| Scnm1 |
A |
C |
3: 95,040,134 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
A |
11: 82,894,968 (GRCm39) |
M613L |
possibly damaging |
Het |
| Snph |
A |
G |
2: 151,435,641 (GRCm39) |
V429A |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,170,934 (GRCm39) |
D1022V |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Ttc8 |
A |
G |
12: 98,909,594 (GRCm39) |
N100D |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,357,997 (GRCm39) |
H752L |
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,110,043 (GRCm39) |
E244D |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,564,760 (GRCm39) |
|
probably null |
Het |
| Zfp46 |
A |
G |
4: 136,018,458 (GRCm39) |
T431A |
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 |
|
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 |
|
|
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'- AGTGACAAGATGAAGCCCC -3'
(R):5'- ACAGTCTTGGGCGGGTTAAG -3'
Sequencing Primer
(F):5'- AGATGAAGCCCCGCCCC -3'
(R):5'- CGTAAAGGCGGCTCGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation