Incidental Mutation 'IGL01632:Anapc10'
| ID |
93504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anapc10
|
| Ensembl Gene |
ENSMUSG00000036977 |
| Gene Name |
anaphase promoting complex subunit 10 |
| Synonyms |
A830003M23Rik, 1500026N15Rik, Apc10 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL01632
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
80438366-80503950 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 80439795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048147]
[ENSMUST00000080536]
[ENSMUST00000210812]
|
| AlphaFold |
Q8K2H6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048147
AA Change: M1T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048244
Gene: ENSMUSG00000036977
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
APC10
|
22 |
184 |
7.76e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080536
|
| SMART Domains |
Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RLI
|
6 |
37 |
6.9e-18 |
PFAM |
|
Pfam:Fer4
|
48 |
71 |
8e-10 |
PFAM |
|
AAA
|
102 |
293 |
2.34e-8 |
SMART |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
AAA
|
371 |
539 |
2.86e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210812
AA Change: M1T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213842
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,928 (GRCm39) |
C1724S |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,789,904 (GRCm39) |
N332S |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,895,899 (GRCm39) |
R49G |
probably damaging |
Het |
| Chodl |
A |
G |
16: 78,741,452 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,733,202 (GRCm39) |
A102D |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,755,559 (GRCm39) |
E1029G |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,394,765 (GRCm39) |
I581N |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,996,092 (GRCm39) |
V406A |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,924,707 (GRCm39) |
R3960Q |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,615,135 (GRCm39) |
D732G |
probably benign |
Het |
| Fyb2 |
G |
T |
4: 104,853,008 (GRCm39) |
V499L |
probably benign |
Het |
| Gm43191 |
A |
T |
3: 116,445,116 (GRCm39) |
H39Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,242,084 (GRCm39) |
K606R |
probably damaging |
Het |
| Klk1b27 |
C |
T |
7: 43,706,097 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,676,672 (GRCm39) |
|
probably benign |
Het |
| Mup14 |
A |
T |
4: 61,259,383 (GRCm39) |
F56L |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,881,874 (GRCm39) |
K39E |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,576 (GRCm39) |
N263Y |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,714 (GRCm39) |
I228T |
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,754,810 (GRCm39) |
I146F |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,854 (GRCm39) |
I759T |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,669 (GRCm39) |
I819T |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,925,740 (GRCm39) |
V322A |
probably benign |
Het |
| Spata3 |
T |
C |
1: 85,950,030 (GRCm39) |
V87A |
possibly damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,511,783 (GRCm39) |
V303A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,403,993 (GRCm39) |
F723I |
possibly damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,536 (GRCm39) |
S329G |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,366 (GRCm39) |
*307R |
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,280 (GRCm39) |
I85V |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,724 (GRCm39) |
I123T |
probably damaging |
Het |
|
| Other mutations in Anapc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0498:Anapc10
|
UTSW |
8 |
80,501,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1586:Anapc10
|
UTSW |
8 |
80,501,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2320:Anapc10
|
UTSW |
8 |
80,501,708 (GRCm39) |
missense |
probably benign |
|
|
R4885:Anapc10
|
UTSW |
8 |
80,455,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6776:Anapc10
|
UTSW |
8 |
80,446,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Anapc10
|
UTSW |
8 |
80,446,308 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9473:Anapc10
|
UTSW |
8 |
80,501,673 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-12-09 |
Incidental Mutation