Incidental Mutation 'IGL01434:Anapc7'
| ID |
84277 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anapc7
|
| Ensembl Gene |
ENSMUSG00000029466 |
| Gene Name |
anaphase promoting complex subunit 7 |
| Synonyms |
prediabetic NOD sera-reactive autoantigen, APC7 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122559756-122582975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122576279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 302
(D302G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031422]
[ENSMUST00000119792]
[ENSMUST00000122010]
|
| AlphaFold |
Q9WVM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031422
AA Change: D302G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031422
Gene: ENSMUSG00000029466
AA Change: D302G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
TPR
|
135 |
168 |
7.11e1 |
SMART |
|
TPR
|
237 |
270 |
1.29e1 |
SMART |
|
TPR
|
339 |
372 |
2.22e-2 |
SMART |
|
TPR
|
475 |
508 |
4.09e-1 |
SMART |
|
low complexity region
|
530 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119792
AA Change: D302G
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112658
Gene: ENSMUSG00000029466
AA Change: D302G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
TPR
|
135 |
168 |
7.11e1 |
SMART |
|
TPR
|
237 |
270 |
1.29e1 |
SMART |
|
TPR
|
339 |
372 |
2.22e-2 |
SMART |
|
TPR
|
442 |
475 |
5.76e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122010
AA Change: D302G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113928
Gene: ENSMUSG00000029466
AA Change: D302G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
|
TPR
|
135 |
168 |
7.11e1 |
SMART |
|
TPR
|
237 |
270 |
1.29e1 |
SMART |
|
TPR
|
339 |
372 |
2.22e-2 |
SMART |
|
TPR
|
475 |
508 |
4.09e-1 |
SMART |
|
low complexity region
|
530 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154074
|
| SMART Domains |
Protein: ENSMUSP00000123365
Gene: ENSMUSG00000029466
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
2 |
28 |
2e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197993
|
| Coding Region Coverage |
|
| 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 proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Anapc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Anapc7
|
APN |
5 |
122,571,540 (GRCm39) |
nonsense |
probably null |
|
|
IGL01448:Anapc7
|
APN |
5 |
122,566,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Anapc7
|
APN |
5 |
122,578,182 (GRCm39) |
missense |
probably benign |
|
|
IGL03040:Anapc7
|
APN |
5 |
122,571,450 (GRCm39) |
nonsense |
probably null |
|
|
IGL03268:Anapc7
|
APN |
5 |
122,567,669 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0603:Anapc7
|
UTSW |
5 |
122,578,233 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1497:Anapc7
|
UTSW |
5 |
122,573,578 (GRCm39) |
splice site |
probably benign |
|
|
R1889:Anapc7
|
UTSW |
5 |
122,571,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Anapc7
|
UTSW |
5 |
122,577,567 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2149:Anapc7
|
UTSW |
5 |
122,581,889 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2877:Anapc7
|
UTSW |
5 |
122,566,219 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3835:Anapc7
|
UTSW |
5 |
122,581,940 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4963:Anapc7
|
UTSW |
5 |
122,560,669 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5373:Anapc7
|
UTSW |
5 |
122,576,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5374:Anapc7
|
UTSW |
5 |
122,576,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5973:Anapc7
|
UTSW |
5 |
122,566,366 (GRCm39) |
missense |
probably benign |
|
|
R6911:Anapc7
|
UTSW |
5 |
122,578,343 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Anapc7
|
UTSW |
5 |
122,571,499 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8375:Anapc7
|
UTSW |
5 |
122,566,342 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8700:Anapc7
|
UTSW |
5 |
122,560,669 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8744:Anapc7
|
UTSW |
5 |
122,566,211 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9634:Anapc7
|
UTSW |
5 |
122,560,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-11 |
Incidental Mutation