Incidental Mutation 'IGL03040:Anapc7'
| ID |
408864 |
| 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 # |
IGL03040
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122559756-122582975 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 122571450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 175
(L175*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031422]
[ENSMUST00000119792]
[ENSMUST00000122010]
|
| AlphaFold |
Q9WVM3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031422
AA Change: L175*
|
| SMART Domains |
Protein: ENSMUSP00000031422
Gene: ENSMUSG00000029466
AA Change: L175*
| 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 |
probably null
Transcript: ENSMUST00000119792
AA Change: L175*
|
| SMART Domains |
Protein: ENSMUSP00000112658
Gene: ENSMUSG00000029466
AA Change: L175*
| 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 null
Transcript: ENSMUST00000122010
AA Change: L175*
|
| SMART Domains |
Protein: ENSMUSP00000113928
Gene: ENSMUSG00000029466
AA Change: L175*
| 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
A |
6: 142,598,323 (GRCm39) |
G672* |
probably null |
Het |
| Adamts19 |
T |
A |
18: 59,036,080 (GRCm39) |
S422T |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,733,484 (GRCm39) |
L986P |
probably damaging |
Het |
| Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
| Bnip5 |
A |
G |
17: 29,134,176 (GRCm39) |
M11T |
probably benign |
Het |
| Cldn5 |
A |
G |
16: 18,596,380 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,969,672 (GRCm39) |
S80P |
probably damaging |
Het |
| Extl1 |
A |
T |
4: 134,087,940 (GRCm39) |
|
probably benign |
Het |
| Fam237b |
C |
A |
5: 5,625,566 (GRCm39) |
Y87* |
probably null |
Het |
| Fbxo38 |
T |
C |
18: 62,660,323 (GRCm39) |
H296R |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,857,960 (GRCm39) |
I2085V |
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,245,805 (GRCm39) |
E445V |
probably benign |
Het |
| Grm8 |
C |
T |
6: 28,126,122 (GRCm39) |
M1I |
probably null |
Het |
| Hnf4g |
T |
A |
3: 3,699,271 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,289,136 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
T |
C |
5: 25,515,350 (GRCm39) |
Q2831R |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,587,610 (GRCm39) |
|
probably benign |
Het |
| Pbx1 |
C |
A |
1: 168,255,515 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
C |
T |
5: 99,120,966 (GRCm39) |
|
probably null |
Het |
| Scn10a |
T |
A |
9: 119,452,051 (GRCm39) |
I1291F |
probably damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,122,481 (GRCm39) |
G414D |
probably benign |
Het |
| Syn2 |
C |
T |
6: 115,240,926 (GRCm39) |
T432I |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 98,996,463 (GRCm39) |
E446G |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,205,866 (GRCm39) |
L835F |
possibly damaging |
Het |
| Ubald1 |
G |
T |
16: 4,693,626 (GRCm39) |
S96R |
possibly damaging |
Het |
| Utp6 |
C |
A |
11: 79,826,939 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
C |
A |
6: 57,382,347 (GRCm39) |
P300Q |
unknown |
Het |
| Vmn1r220 |
T |
C |
13: 23,367,952 (GRCm39) |
D248G |
possibly damaging |
Het |
| Zglp1 |
T |
A |
9: 20,974,622 (GRCm39) |
S189C |
probably damaging |
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 |
|
|
IGL01434:Anapc7
|
APN |
5 |
122,576,279 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01448:Anapc7
|
APN |
5 |
122,566,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Anapc7
|
APN |
5 |
122,578,182 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation