Incidental Mutation 'R4596:Anapc4'
| ID |
500667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc4
|
| Ensembl Gene |
ENSMUSG00000029176 |
| Gene Name |
anaphase promoting complex subunit 4 |
| Synonyms |
D5Ertd249e, 2610306D21Rik, APC4 |
| MMRRC Submission |
041812-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4596 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
52991477-53024076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52999060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 124
(V124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031072]
[ENSMUST00000144574]
|
| AlphaFold |
Q91W96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031072
AA Change: V124A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANAPC4_WD40
|
10 |
57 |
9.1e-18 |
PFAM |
|
low complexity region
|
137 |
147 |
N/A |
INTRINSIC |
|
Pfam:ANAPC4
|
232 |
431 |
3.7e-61 |
PFAM |
|
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144574
|
| SMART Domains |
Protein: ENSMUSP00000114475
Gene: ENSMUSG00000029176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apc4_WD40
|
10 |
57 |
4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198207
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,088 (GRCm39) |
K429E |
probably benign |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adad1 |
T |
C |
3: 37,119,341 (GRCm39) |
S141P |
probably damaging |
Het |
| Anxa6 |
G |
T |
11: 54,885,409 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,224,681 (GRCm39) |
|
probably null |
Het |
| Asz1 |
A |
T |
6: 18,103,592 (GRCm39) |
I116K |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,498,082 (GRCm39) |
N314D |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,662,149 (GRCm39) |
V376A |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,728 (GRCm39) |
T196A |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,961,189 (GRCm39) |
V225A |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,448,940 (GRCm39) |
P1217S |
unknown |
Het |
| Dync2h1 |
C |
T |
9: 6,992,595 (GRCm39) |
D3996N |
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,838 (GRCm39) |
N6S |
probably benign |
Het |
| Fhod3 |
A |
T |
18: 25,248,775 (GRCm39) |
Q1318L |
probably benign |
Het |
| Gmps |
G |
T |
3: 63,901,338 (GRCm39) |
E386* |
probably null |
Het |
| Hspa13 |
C |
T |
16: 75,555,114 (GRCm39) |
G324D |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Itgb1bp1 |
C |
A |
12: 21,322,135 (GRCm39) |
L101F |
probably damaging |
Het |
| Jak3 |
T |
A |
8: 72,137,275 (GRCm39) |
S779T |
probably damaging |
Het |
| Klhl21 |
G |
T |
4: 152,096,997 (GRCm39) |
R421L |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,422 (GRCm39) |
F212S |
probably damaging |
Het |
| Msl3l2 |
T |
A |
10: 55,991,741 (GRCm39) |
F155L |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,078,132 (GRCm39) |
K406E |
possibly damaging |
Het |
| Nsd2 |
A |
T |
5: 34,040,262 (GRCm39) |
H933L |
probably damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,538 (GRCm39) |
T304A |
probably benign |
Het |
| Or51h5 |
A |
G |
7: 102,577,458 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or6f1 |
A |
T |
7: 85,970,631 (GRCm39) |
H176Q |
probably damaging |
Het |
| Or9q2 |
G |
A |
19: 13,772,264 (GRCm39) |
T237I |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,827,435 (GRCm39) |
I467V |
probably benign |
Het |
| Pcdha8 |
A |
C |
18: 37,126,611 (GRCm39) |
Q364H |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,652 (GRCm39) |
T948A |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,507,430 (GRCm39) |
V311D |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,671,558 (GRCm39) |
Y495C |
probably benign |
Het |
| Sec61g |
A |
T |
11: 16,458,127 (GRCm39) |
S23T |
probably benign |
Het |
| Sema3a |
G |
T |
5: 13,620,125 (GRCm39) |
V458F |
probably damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,907,078 (GRCm39) |
E65D |
probably damaging |
Het |
| Slc35f6 |
T |
C |
5: 30,805,406 (GRCm39) |
M14T |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,127,202 (GRCm39) |
I882F |
probably damaging |
Het |
| Sox17 |
C |
A |
1: 4,562,860 (GRCm39) |
E48D |
possibly damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,236 (GRCm39) |
I270F |
possibly damaging |
Het |
| Tia1 |
A |
G |
6: 86,397,389 (GRCm39) |
I121V |
probably benign |
Het |
| Trim30d |
A |
T |
7: 104,121,733 (GRCm39) |
H337Q |
probably benign |
Het |
| Tvp23b |
G |
A |
11: 62,774,544 (GRCm39) |
A63T |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,367,681 (GRCm39) |
V437I |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,298 (GRCm39) |
|
probably benign |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,306 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,060,183 (GRCm39) |
S310F |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,058,887 (GRCm39) |
M327L |
probably benign |
Het |
|
| Other mutations in Anapc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Anapc4
|
APN |
5 |
53,014,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01066:Anapc4
|
APN |
5 |
53,014,551 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01109:Anapc4
|
APN |
5 |
53,005,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01657:Anapc4
|
APN |
5 |
53,021,968 (GRCm39) |
nonsense |
probably null |
|
|
IGL02692:Anapc4
|
APN |
5 |
53,021,871 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02734:Anapc4
|
APN |
5 |
53,018,633 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03089:Anapc4
|
APN |
5 |
53,023,740 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03096:Anapc4
|
APN |
5 |
53,023,271 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
FR4304:Anapc4
|
UTSW |
5 |
53,021,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03048:Anapc4
|
UTSW |
5 |
52,997,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0331:Anapc4
|
UTSW |
5 |
53,012,984 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Anapc4
|
UTSW |
5 |
52,999,359 (GRCm39) |
unclassified |
probably benign |
|
|
R0624:Anapc4
|
UTSW |
5 |
53,002,761 (GRCm39) |
splice site |
probably benign |
|
|
R0919:Anapc4
|
UTSW |
5 |
53,012,979 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1935:Anapc4
|
UTSW |
5 |
52,997,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1936:Anapc4
|
UTSW |
5 |
52,997,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1942:Anapc4
|
UTSW |
5 |
53,004,056 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1953:Anapc4
|
UTSW |
5 |
52,997,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Anapc4
|
UTSW |
5 |
53,003,967 (GRCm39) |
intron |
probably benign |
|
|
R2341:Anapc4
|
UTSW |
5 |
52,999,279 (GRCm39) |
unclassified |
probably benign |
|
|
R3696:Anapc4
|
UTSW |
5 |
53,019,351 (GRCm39) |
missense |
probably null |
0.01 |
|
R4506:Anapc4
|
UTSW |
5 |
52,993,072 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5234:Anapc4
|
UTSW |
5 |
53,006,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Anapc4
|
UTSW |
5 |
53,020,936 (GRCm39) |
missense |
probably benign |
|
|
R5310:Anapc4
|
UTSW |
5 |
53,016,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5401:Anapc4
|
UTSW |
5 |
53,020,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5409:Anapc4
|
UTSW |
5 |
53,005,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5525:Anapc4
|
UTSW |
5 |
53,014,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5575:Anapc4
|
UTSW |
5 |
53,013,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Anapc4
|
UTSW |
5 |
52,999,076 (GRCm39) |
nonsense |
probably null |
|
|
R5695:Anapc4
|
UTSW |
5 |
53,019,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5955:Anapc4
|
UTSW |
5 |
53,023,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5974:Anapc4
|
UTSW |
5 |
53,002,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Anapc4
|
UTSW |
5 |
53,021,895 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6537:Anapc4
|
UTSW |
5 |
53,000,898 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6633:Anapc4
|
UTSW |
5 |
53,023,288 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6860:Anapc4
|
UTSW |
5 |
53,006,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Anapc4
|
UTSW |
5 |
52,993,093 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7067:Anapc4
|
UTSW |
5 |
53,019,577 (GRCm39) |
missense |
probably benign |
|
|
R7327:Anapc4
|
UTSW |
5 |
53,002,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7442:Anapc4
|
UTSW |
5 |
53,014,543 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7837:Anapc4
|
UTSW |
5 |
53,016,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8382:Anapc4
|
UTSW |
5 |
53,016,277 (GRCm39) |
splice site |
probably null |
|
|
R8840:Anapc4
|
UTSW |
5 |
53,016,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8914:Anapc4
|
UTSW |
5 |
53,000,843 (GRCm39) |
nonsense |
probably null |
|
|
R8972:Anapc4
|
UTSW |
5 |
53,007,884 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9037:Anapc4
|
UTSW |
5 |
53,021,843 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9211:Anapc4
|
UTSW |
5 |
53,007,994 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9269:Anapc4
|
UTSW |
5 |
53,018,620 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9294:Anapc4
|
UTSW |
5 |
53,021,867 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCAGTGAAACATGCATAC -3'
(R):5'- TGCTGTTGTAACTGGGAGAAAAC -3'
Sequencing Primer
(F):5'- CCAGCGCTTTCTGTTCATATATGGG -3'
(R):5'- AACAGAGAAGGCACACTGG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation