Incidental Mutation 'R4254:Anapc2'
| ID |
321727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anapc2
|
| Ensembl Gene |
ENSMUSG00000026965 |
| Gene Name |
anaphase promoting complex subunit 2 |
| Synonyms |
Emi4, expressed during mesenchymal induction 4, 9230107K09Rik, Imi4, APC2 |
| MMRRC Submission |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25162490-25175927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25163357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 198
(V198A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028341]
[ENSMUST00000028342]
[ENSMUST00000114336]
[ENSMUST00000129300]
|
| AlphaFold |
Q8BZQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028341
AA Change: V198A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: V198A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
467 |
N/A |
INTRINSIC |
|
CULLIN
|
515 |
663 |
6.72e-9 |
SMART |
|
APC2
|
772 |
832 |
3.67e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028342
|
| SMART Domains |
Protein: ENSMUSP00000028342
Gene: ENSMUSG00000026966
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114336
|
| SMART Domains |
Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phostensin_N
|
8 |
89 |
8.3e-38 |
PFAM |
|
low complexity region
|
105 |
117 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
149 |
273 |
1.71e-5 |
PROSPERO |
|
low complexity region
|
290 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
410 |
N/A |
INTRINSIC |
|
Pfam:Phostensin
|
506 |
645 |
1.8e-65 |
PFAM |
|
low complexity region
|
647 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129300
|
| SMART Domains |
Protein: ENSMUSP00000115177
Gene: ENSMUSG00000026965
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141470
|
| Meta Mutation Damage Score |
0.0946 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: This gene encodes a component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle by ubiquitinating its specific substrates, such as mitotic cyclins and anaphase inhibitor, for subsequent degradation by the proteasome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before E6.5. Conditional ablation in the liver results in liver failure and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
| Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
probably benign |
Het |
|
| Other mutations in Anapc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:Anapc2
|
APN |
2 |
25,164,794 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01575:Anapc2
|
APN |
2 |
25,175,188 (GRCm39) |
splice site |
probably benign |
|
|
IGL01993:Anapc2
|
APN |
2 |
25,164,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02586:Anapc2
|
APN |
2 |
25,175,108 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02721:Anapc2
|
APN |
2 |
25,164,680 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Anapc2
|
UTSW |
2 |
25,162,544 (GRCm39) |
unclassified |
probably benign |
|
|
R0415:Anapc2
|
UTSW |
2 |
25,168,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Anapc2
|
UTSW |
2 |
25,163,075 (GRCm39) |
missense |
probably benign |
|
|
R1675:Anapc2
|
UTSW |
2 |
25,162,651 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1720:Anapc2
|
UTSW |
2 |
25,164,724 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2150:Anapc2
|
UTSW |
2 |
25,162,682 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2173:Anapc2
|
UTSW |
2 |
25,163,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4028:Anapc2
|
UTSW |
2 |
25,167,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:Anapc2
|
UTSW |
2 |
25,166,406 (GRCm39) |
missense |
probably benign |
|
|
R4742:Anapc2
|
UTSW |
2 |
25,163,555 (GRCm39) |
splice site |
probably null |
|
|
R4824:Anapc2
|
UTSW |
2 |
25,167,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Anapc2
|
UTSW |
2 |
25,164,808 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5530:Anapc2
|
UTSW |
2 |
25,174,595 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6456:Anapc2
|
UTSW |
2 |
25,170,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Anapc2
|
UTSW |
2 |
25,175,407 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6587:Anapc2
|
UTSW |
2 |
25,162,550 (GRCm39) |
unclassified |
probably benign |
|
|
R7164:Anapc2
|
UTSW |
2 |
25,175,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Anapc2
|
UTSW |
2 |
25,166,376 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7829:Anapc2
|
UTSW |
2 |
25,167,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Anapc2
|
UTSW |
2 |
25,164,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7970:Anapc2
|
UTSW |
2 |
25,163,299 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8015:Anapc2
|
UTSW |
2 |
25,174,688 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8064:Anapc2
|
UTSW |
2 |
25,166,418 (GRCm39) |
missense |
probably benign |
|
|
R8838:Anapc2
|
UTSW |
2 |
25,163,546 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8954:Anapc2
|
UTSW |
2 |
25,170,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Anapc2
|
UTSW |
2 |
25,163,303 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9468:Anapc2
|
UTSW |
2 |
25,163,132 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9525:Anapc2
|
UTSW |
2 |
25,166,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9750:Anapc2
|
UTSW |
2 |
25,174,982 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
RF042:Anapc2
|
UTSW |
2 |
25,162,573 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Anapc2
|
UTSW |
2 |
25,162,573 (GRCm39) |
unclassified |
probably benign |
|
|
RF062:Anapc2
|
UTSW |
2 |
25,162,549 (GRCm39) |
frame shift |
probably null |
|
|
X0025:Anapc2
|
UTSW |
2 |
25,169,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Anapc2
|
UTSW |
2 |
25,163,380 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCCGCTTGGATCCCTATC -3'
(R):5'- GGAAGCAGTACTCACAGGAC -3'
Sequencing Primer
(F):5'- TCTGCATAGCCTAGAACTCCTAGAG -3'
(R):5'- TCAGCTGGTTGAACTGCTCCAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation