Incidental Mutation 'R9471:Anapc5'
| ID |
715455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc5
|
| Ensembl Gene |
ENSMUSG00000029472 |
| Gene Name |
anaphase-promoting complex subunit 5 |
| Synonyms |
2510006G12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R9471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
122925522-122959402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122944308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 302
(Y302C)
|
| 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 damaging
Transcript: ENSMUST00000086216
AA Change: Y302C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: Y302C
| 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 damaging
Transcript: ENSMUST00000196423
AA Change: Y302C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472
AA Change: Y302C
| 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: Y302C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: Y302C
| 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: Y302C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: Y302C
| 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 damaging
Transcript: ENSMUST00000197719
AA Change: Y302C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: Y302C
| 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: Y302C
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: Y302C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142981
Gene: ENSMUSG00000029472
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000200148
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200645
AA Change: Y302C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: Y302C
| 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: 98.7%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,565,319 (GRCm39) |
K368E |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,558,365 (GRCm39) |
T448A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,271,473 (GRCm39) |
P337S |
probably benign |
Het |
| Alg12 |
G |
A |
15: 88,690,621 (GRCm39) |
Q406* |
probably null |
Het |
| Apol7a |
A |
G |
15: 77,273,680 (GRCm39) |
S261P |
possibly damaging |
Het |
| Atad5 |
G |
T |
11: 80,023,524 (GRCm39) |
K1545N |
possibly damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,467,941 (GRCm39) |
D42E |
probably benign |
Het |
| Bcl6 |
T |
A |
16: 23,791,857 (GRCm39) |
N166Y |
probably benign |
Het |
| Btbd7 |
C |
T |
12: 102,760,145 (GRCm39) |
R601Q |
probably damaging |
Het |
| Casp1 |
A |
G |
9: 5,304,187 (GRCm39) |
E287G |
probably benign |
Het |
| Cd300c |
A |
T |
11: 114,847,216 (GRCm39) |
V193E |
probably damaging |
Het |
| Cd300lg |
T |
A |
11: 101,944,920 (GRCm39) |
S377T |
probably benign |
Het |
| Ceacam13 |
T |
A |
7: 17,753,012 (GRCm39) |
*264R |
probably null |
Het |
| Clasrp |
G |
A |
7: 19,319,172 (GRCm39) |
R498* |
probably null |
Het |
| Clec4n |
T |
A |
6: 123,221,505 (GRCm39) |
N146K |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,968,019 (GRCm39) |
V746E |
possibly damaging |
Het |
| Defa29 |
T |
C |
8: 21,816,901 (GRCm39) |
T31A |
possibly damaging |
Het |
| Egr4 |
A |
G |
6: 85,489,695 (GRCm39) |
S122P |
possibly damaging |
Het |
| Fam221a |
T |
G |
6: 49,349,520 (GRCm39) |
D28E |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,000,897 (GRCm39) |
T1161I |
possibly damaging |
Het |
| Fcsk |
T |
C |
8: 111,610,041 (GRCm39) |
E991G |
probably benign |
Het |
| Frat2 |
A |
G |
19: 41,836,113 (GRCm39) |
S80P |
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,301,845 (GRCm39) |
S985R |
unknown |
Het |
| H2-M3 |
T |
A |
17: 37,581,988 (GRCm39) |
I148N |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 119,376,235 (GRCm39) |
V137L |
probably damaging |
Het |
| Ighv1-42 |
T |
A |
12: 114,900,927 (GRCm39) |
M53L |
probably benign |
Het |
| Klhl24 |
C |
T |
16: 19,941,735 (GRCm39) |
T561I |
|
Het |
| Klhl26 |
C |
G |
8: 70,904,803 (GRCm39) |
G369A |
probably damaging |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,913,980 (GRCm39) |
D750V |
|
Het |
| Mc5r |
A |
G |
18: 68,472,127 (GRCm39) |
D162G |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,234,559 (GRCm39) |
S1026R |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,436,195 (GRCm39) |
H1945R |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,002,114 (GRCm39) |
M113T |
probably benign |
Het |
| Obox2 |
G |
A |
7: 15,131,113 (GRCm39) |
G73D |
probably damaging |
Het |
| Or1af1 |
G |
A |
2: 37,110,400 (GRCm39) |
A300T |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,355 (GRCm39) |
C152* |
probably null |
Het |
| Pappa2 |
C |
T |
1: 158,642,029 (GRCm39) |
M1342I |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,202,039 (GRCm39) |
L44Q |
probably damaging |
Het |
| Pnpla1 |
A |
T |
17: 29,099,973 (GRCm39) |
Q280L |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,749 (GRCm39) |
T347S |
probably damaging |
Het |
| Prdm1 |
C |
T |
10: 44,326,174 (GRCm39) |
G117S |
probably damaging |
Het |
| Prss36 |
A |
T |
7: 127,545,605 (GRCm39) |
F6I |
probably benign |
Het |
| Sat2 |
A |
G |
11: 69,513,725 (GRCm39) |
Y81C |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,677 (GRCm39) |
D67G |
probably benign |
Het |
| Shank2 |
G |
A |
7: 143,964,752 (GRCm39) |
V787M |
possibly damaging |
Het |
| Stoml1 |
A |
T |
9: 58,163,968 (GRCm39) |
I96F |
probably damaging |
Het |
| Tet2 |
C |
T |
3: 133,191,680 (GRCm39) |
G918D |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,869,444 (GRCm39) |
I8V |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r67 |
A |
C |
7: 84,799,723 (GRCm39) |
|
probably null |
Het |
| Wdr90 |
C |
A |
17: 26,080,015 (GRCm39) |
V107L |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,241,161 (GRCm39) |
D286G |
unknown |
Het |
| Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,508,343 (GRCm39) |
T386A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAAAGGATCACTCTGGGAACTAG -3'
(R):5'- AACAACCTCCGTGTTCAAGATG -3'
Sequencing Primer
(F):5'- TCAGTGCTGGGATTACACAC -3'
(R):5'- GATGTTTTCAGCTCAACACACAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation