Incidental Mutation 'R0319:Anapc5'
ID 25537
Institutional Source Beutler Lab
Gene Symbol Anapc5
Ensembl Gene ENSMUSG00000029472
Gene Name anaphase-promoting complex subunit 5
Synonyms 2510006G12Rik
MMRRC Submission 038529-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R0319 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 122925522-122959402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122956919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 120 (V120A)
Ref Sequence ENSEMBL: ENSMUSP00000142341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086216] [ENSMUST00000196423] [ENSMUST00000196640] [ENSMUST00000197074] [ENSMUST00000199406] [ENSMUST00000197719] [ENSMUST00000200645] [ENSMUST00000199926]
AlphaFold Q8BTZ4
Predicted Effect probably damaging
Transcript: ENSMUST00000086216
AA Change: V120A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: V120A

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:ANAPC5 239 339 3.5e-34 PFAM
Pfam:ANAPC5 383 478 3.1e-3 PFAM
Blast:TPR 526 559 8e-12 BLAST
Blast:TPR 566 599 5e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000196423
AA Change: V120A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472
AA Change: V120A

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:Apc5 239 339 1.9e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196640
AA Change: V120A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: V120A

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:Apc5 239 339 4.8e-31 PFAM
Pfam:Apc5 383 478 5.1e0 PFAM
Blast:TPR 526 559 7e-12 BLAST
Blast:TPR 566 599 5e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000197074
AA Change: V120A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: V120A

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:Apc5 239 339 3.9e-34 PFAM
Pfam:Apc5 375 470 4.1e-3 PFAM
Blast:TPR 518 551 7e-12 BLAST
Blast:TPR 558 591 5e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197554
Predicted Effect probably damaging
Transcript: ENSMUST00000199406
AA Change: V120A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: V120A

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:Apc5 239 339 4.1e-31 PFAM
Pfam:TPR_10 287 322 2.7e-1 PFAM
Pfam:Apc5 383 478 4.4e0 PFAM
Pfam:TPR_10 533 577 2e-1 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197719
AA Change: V120A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: V120A

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:Apc5 239 339 4.7e-31 PFAM
Pfam:Apc5 370 465 5e0 PFAM
Blast:TPR 513 546 7e-12 BLAST
Blast:TPR 553 586 5e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000200645
AA Change: V120A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: V120A

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:Apc5 239 339 3.9e-34 PFAM
Pfam:Apc5 370 465 4.1e-3 PFAM
Blast:TPR 513 546 7e-12 BLAST
Blast:TPR 553 586 5e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200415
Predicted Effect probably benign
Transcript: ENSMUST00000199926
SMART Domains Protein: ENSMUSP00000142981
Gene: ENSMUSG00000029472

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Meta Mutation Damage Score 0.3677 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (58/58)
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 the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,836,362 (GRCm39) V77G probably benign Het
Abcb1b A G 5: 8,877,428 (GRCm39) R663G probably benign Het
Acly A G 11: 100,395,808 (GRCm39) V404A probably damaging Het
Actg2 T A 6: 83,497,725 (GRCm39) I103F probably damaging Het
Ankk1 T G 9: 49,327,371 (GRCm39) T603P probably damaging Het
Ankmy2 T C 12: 36,215,898 (GRCm39) S33P possibly damaging Het
Arhgef19 A T 4: 140,983,710 (GRCm39) T748S possibly damaging Het
Atad5 T A 11: 80,011,616 (GRCm39) probably benign Het
Atxn10 T C 15: 85,249,483 (GRCm39) L105P probably damaging Het
Cacna1s T C 1: 135,998,455 (GRCm39) V161A probably damaging Het
Col6a3 T C 1: 90,735,426 (GRCm39) E741G possibly damaging Het
Cpne9 G A 6: 113,271,654 (GRCm39) G338E probably damaging Het
Cyp3a13 G A 5: 137,897,124 (GRCm39) P397S probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Draxin A G 4: 148,200,429 (GRCm39) L7P probably benign Het
Exosc7 T A 9: 122,960,025 (GRCm39) probably benign Het
Far2 A G 6: 148,058,968 (GRCm39) E218G probably damaging Het
Ggps1 A C 13: 14,228,462 (GRCm39) N240K possibly damaging Het
Kcnip1 T C 11: 33,601,529 (GRCm39) probably benign Het
Kcnv2 A T 19: 27,301,424 (GRCm39) Y425F probably benign Het
Kdelr2 T A 5: 143,398,272 (GRCm39) F40I probably damaging Het
Kdm1b C T 13: 47,207,195 (GRCm39) P173L probably benign Het
Kif20b G A 19: 34,925,132 (GRCm39) probably benign Het
Klhl9 A T 4: 88,638,691 (GRCm39) Y517N possibly damaging Het
Lgals3bp A G 11: 118,284,347 (GRCm39) S411P probably damaging Het
Lmo3 G A 6: 138,354,309 (GRCm39) T85M probably damaging Het
Lvrn C A 18: 46,997,820 (GRCm39) T256N probably damaging Het
Malt1 T C 18: 65,595,986 (GRCm39) probably null Het
Mgst1 A G 6: 138,133,155 (GRCm39) I157V possibly damaging Het
Mob3a A T 10: 80,525,819 (GRCm39) V164E possibly damaging Het
Mprip T A 11: 59,587,864 (GRCm39) probably benign Het
Mst1 A G 9: 107,959,712 (GRCm39) N276S probably benign Het
Or5an1b A T 19: 12,299,680 (GRCm39) C170* probably null Het
P3h2 T A 16: 25,789,681 (GRCm39) I529F possibly damaging Het
Pikfyve T A 1: 65,285,490 (GRCm39) S865T probably benign Het
Rcbtb2 G A 14: 73,415,909 (GRCm39) R474Q probably benign Het
Rpl27 G A 11: 101,334,321 (GRCm39) probably benign Het
Rtp1 G A 16: 23,250,210 (GRCm39) E192K probably damaging Het
Sgk2 T C 2: 162,837,592 (GRCm39) probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc49a4 T C 16: 35,570,884 (GRCm39) D140G probably benign Het
Spdl1 T C 11: 34,714,347 (GRCm39) N114S possibly damaging Het
Syne2 C T 12: 76,110,936 (GRCm39) R5756W probably damaging Het
Tor1aip1 T C 1: 155,882,927 (GRCm39) E307G probably damaging Het
Tpd52 T C 3: 9,018,749 (GRCm39) T44A probably benign Het
Trim67 A T 8: 125,549,966 (GRCm39) Y532F probably damaging Het
Ttll9 C A 2: 152,842,018 (GRCm39) probably null Het
Ush2a T C 1: 188,680,571 (GRCm39) probably benign Het
Vcam1 T C 3: 115,909,709 (GRCm39) I539M probably benign Het
Vmn1r19 T A 6: 57,381,600 (GRCm39) M51K possibly damaging Het
Vmn2r61 T A 7: 41,949,941 (GRCm39) M787K probably damaging Het
Xdh T A 17: 74,213,096 (GRCm39) probably benign Het
Zfp109 A T 7: 23,933,895 (GRCm39) V8E probably damaging Het
Zfp595 G A 13: 67,464,577 (GRCm39) A562V possibly damaging Het
Zfp759 A G 13: 67,288,356 (GRCm39) T636A probably benign Het
Other mutations in Anapc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02209:Anapc5 APN 5 122,938,676 (GRCm39) missense possibly damaging 0.95
IGL03158:Anapc5 APN 5 122,955,960 (GRCm39) missense probably benign
R0137:Anapc5 UTSW 5 122,938,695 (GRCm39) missense probably damaging 1.00
R0326:Anapc5 UTSW 5 122,952,667 (GRCm39) missense probably benign 0.40
R0399:Anapc5 UTSW 5 122,929,816 (GRCm39) missense probably damaging 0.99
R0633:Anapc5 UTSW 5 122,938,695 (GRCm39) missense probably damaging 1.00
R1173:Anapc5 UTSW 5 122,926,481 (GRCm39) missense possibly damaging 0.49
R1723:Anapc5 UTSW 5 122,937,406 (GRCm39) missense probably damaging 0.96
R2018:Anapc5 UTSW 5 122,938,587 (GRCm39) missense probably damaging 1.00
R2114:Anapc5 UTSW 5 122,926,001 (GRCm39) missense probably benign 0.06
R4211:Anapc5 UTSW 5 122,955,968 (GRCm39) missense probably benign
R4287:Anapc5 UTSW 5 122,938,664 (GRCm39) missense probably benign 0.02
R4533:Anapc5 UTSW 5 122,929,798 (GRCm39) missense possibly damaging 0.86
R4905:Anapc5 UTSW 5 122,955,973 (GRCm39) missense probably benign 0.00
R5336:Anapc5 UTSW 5 122,945,400 (GRCm39) missense probably damaging 1.00
R5499:Anapc5 UTSW 5 122,926,476 (GRCm39) missense probably damaging 1.00
R5568:Anapc5 UTSW 5 122,929,988 (GRCm39) utr 3 prime probably benign
R6481:Anapc5 UTSW 5 122,938,607 (GRCm39) missense probably benign 0.27
R7461:Anapc5 UTSW 5 122,956,928 (GRCm39) missense probably damaging 1.00
R7613:Anapc5 UTSW 5 122,956,928 (GRCm39) missense probably damaging 1.00
R7681:Anapc5 UTSW 5 122,940,202 (GRCm39) missense probably benign 0.01
R7912:Anapc5 UTSW 5 122,931,498 (GRCm39) critical splice donor site probably null
R8007:Anapc5 UTSW 5 122,929,963 (GRCm39) missense probably benign
R8080:Anapc5 UTSW 5 122,945,401 (GRCm39) missense probably damaging 1.00
R8488:Anapc5 UTSW 5 122,956,033 (GRCm39) makesense probably null
R8517:Anapc5 UTSW 5 122,959,093 (GRCm39) missense probably benign
R9036:Anapc5 UTSW 5 122,957,716 (GRCm39) missense possibly damaging 0.46
R9464:Anapc5 UTSW 5 122,940,209 (GRCm39) missense probably benign 0.00
R9471:Anapc5 UTSW 5 122,944,308 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGTGAAAAGAGCTGAGCGACCC -3'
(R):5'- TGTGCAGCGAGCCTTCCTAAAC -3'

Sequencing Primer
(F):5'- CTACTCCAGGAGAACAGAGCTG -3'
(R):5'- AAACCATGCATCCCGATTTTC -3'
Posted On 2013-04-16