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: 0.962)
|
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 |