Incidental Mutation 'R2114:Anapc5'
ID232917
Institutional Source Beutler Lab
Gene Symbol Anapc5
Ensembl Gene ENSMUSG00000029472
Gene Nameanaphase-promoting complex subunit 5
Synonyms
MMRRC Submission 040118-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #R2114 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location122787459-122821339 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 122787938 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 685 (V685I)
Ref Sequence ENSEMBL: ENSMUSP00000142922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086216] [ENSMUST00000196423] [ENSMUST00000196640] [ENSMUST00000197074] [ENSMUST00000197719] [ENSMUST00000199406] [ENSMUST00000200645]
Predicted Effect probably benign
Transcript: ENSMUST00000086216
AA Change: V698I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: V698I

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 probably benign
Transcript: ENSMUST00000196423
SMART Domains Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472

DomainStartEndE-ValueType
low complexity region 48 57 N/A INTRINSIC
Pfam:Apc5 239 339 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196640
AA Change: V690I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: V690I

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 benign
Transcript: ENSMUST00000197074
AA Change: V690I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: V690I

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 probably benign
Transcript: ENSMUST00000197719
AA Change: V677I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: V677I

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 noncoding transcript
Transcript: ENSMUST00000199025
Predicted Effect probably benign
Transcript: ENSMUST00000199130
Predicted Effect probably benign
Transcript: ENSMUST00000199191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199279
Predicted Effect probably benign
Transcript: ENSMUST00000199406
SMART Domains Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472

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 benign
Transcript: ENSMUST00000200645
AA Change: V685I

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: V685I

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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 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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a A G 2: 155,047,729 R72G probably benign Het
Adgrb1 T A 15: 74,540,562 probably null Het
Akr1b7 G A 6: 34,418,994 A144T possibly damaging Het
Apba3 T C 10: 81,273,112 Y570H probably damaging Het
Arf5 C T 6: 28,424,784 Q71* probably null Het
Arl15 C T 13: 113,967,660 S111F probably damaging Het
Ash1l C T 3: 88,983,264 L817F probably benign Het
Auh G A 13: 52,835,496 P308L probably benign Het
Blvra G T 2: 127,086,069 E80* probably null Het
Bmp10 A C 6: 87,434,459 E411D probably benign Het
Ccdc148 T C 2: 59,002,116 E188G probably damaging Het
Ces1a A G 8: 93,039,551 L145P possibly damaging Het
Chsy3 G A 18: 59,179,489 V345I probably damaging Het
Ckmt2 T A 13: 91,855,845 I345F probably benign Het
Col5a2 T A 1: 45,376,804 E1394D probably damaging Het
Dnah6 T C 6: 73,144,035 N1492S probably damaging Het
Dock3 T C 9: 106,993,544 N557S probably benign Het
Edem2 G A 2: 155,702,559 R424C probably damaging Het
Exoc4 T A 6: 33,347,825 N351K possibly damaging Het
Eya1 A T 1: 14,270,774 F163I probably damaging Het
Ezh1 A C 11: 101,208,185 S290A probably benign Het
Fam83f T G 15: 80,692,267 V373G possibly damaging Het
Fam83h A T 15: 76,002,297 Y1064N probably damaging Het
Fat4 A T 3: 38,981,484 H3095L probably benign Het
Fbxo38 A C 18: 62,506,640 I1051S possibly damaging Het
Galnt6 G C 15: 100,714,241 C173W probably damaging Het
Gcc2 T A 10: 58,269,540 C99* probably null Het
Gcn1l1 A T 5: 115,598,825 M1276L probably benign Het
Gm14124 T A 2: 150,267,899 C170S unknown Het
Gm266 T G 12: 111,485,682 Q30P possibly damaging Het
Gsdma A T 11: 98,673,012 E264V probably damaging Het
Ift74 A G 4: 94,627,259 T138A probably benign Het
Ikzf1 T G 11: 11,769,473 H480Q probably damaging Het
Ints14 T G 9: 64,979,795 L336R probably damaging Het
Irak1 G T X: 74,022,612 P197Q possibly damaging Het
Kcna6 A G 6: 126,739,359 V189A possibly damaging Het
Kcnh4 A G 11: 100,759,595 M4T probably damaging Het
Kif4 A G X: 100,665,717 S315G probably benign Het
L3mbtl1 T A 2: 162,960,070 probably null Het
Lrwd1 T A 5: 136,130,478 Y431F probably damaging Het
Madd A G 2: 91,164,022 V884A probably damaging Het
Maz C A 7: 127,025,505 C281F probably damaging Het
Mb G T 15: 77,022,559 Q9K probably benign Het
Mllt10 A G 2: 18,162,569 N435S probably benign Het
Mrm3 T C 11: 76,244,521 M186T possibly damaging Het
Naprt T C 15: 75,891,788 Y395C probably damaging Het
Nccrp1 T A 7: 28,546,909 Q76L probably benign Het
Nlgn1 T A 3: 26,133,265 N157I probably damaging Het
Nmi T C 2: 51,948,707 T272A probably benign Het
Obscn C T 11: 59,131,658 V754M probably damaging Het
Pcdhb12 A G 18: 37,436,212 E137G probably damaging Het
Pdk2 A G 11: 95,027,262 Y382H probably damaging Het
Phka1 C T X: 102,610,201 R290H probably damaging Het
Pick1 T A 15: 79,255,581 probably benign Het
Pik3r2 T C 8: 70,769,385 I585V probably benign Het
Pitrm1 A T 13: 6,557,773 Y268F probably damaging Het
Polr2b G A 5: 77,320,970 E198K probably damaging Het
Prelid3b T C 2: 174,469,450 N9D probably damaging Het
Prex2 T A 1: 11,186,713 N1216K probably damaging Het
Prkab2 A T 3: 97,667,395 M236L possibly damaging Het
Prkar2b T A 12: 31,967,280 N257I probably damaging Het
Prkcd A G 14: 30,605,851 C208R probably damaging Het
Prkch T A 12: 73,702,516 S347T probably benign Het
Prr12 A G 7: 45,046,082 V1320A unknown Het
Ptk2 A G 15: 73,242,406 V701A possibly damaging Het
Ptpra G T 2: 130,539,735 R372L probably damaging Het
Ptx3 T A 3: 66,224,766 I236N probably damaging Het
Ralgapa1 T C 12: 55,786,349 probably null Het
Rgr T A 14: 37,038,852 probably null Het
Rgs7 T A 1: 175,091,073 N235I probably damaging Het
Rgsl1 T A 1: 153,817,549 M629L probably benign Het
Rpgrip1 A T 14: 52,149,567 E781V probably benign Het
Rrh T C 3: 129,810,687 I288M probably damaging Het
Rtf1 T A 2: 119,705,518 H184Q probably benign Het
Rusc1 T C 3: 89,091,707 D256G probably benign Het
Scap T C 9: 110,381,273 Y917H probably damaging Het
Scn9a T C 2: 66,484,052 E1774G probably damaging Het
Sec11c A T 18: 65,800,649 T9S probably benign Het
Slc24a2 C T 4: 86,991,355 V664I probably benign Het
Stim2 A G 5: 54,104,477 Q237R probably damaging Het
Synpo2 T A 3: 123,079,888 H1143L probably benign Het
Syt4 A G 18: 31,440,467 Y332H probably damaging Het
Tcf23 G A 5: 30,973,575 D186N probably benign Het
Tcf3 C A 10: 80,410,206 G628W probably damaging Het
Tcof1 T C 18: 60,832,785 E415G possibly damaging Het
Tlr5 T C 1: 182,975,629 W833R probably damaging Het
Tmem132b A G 5: 125,622,551 E92G probably damaging Het
Ttn A T 2: 76,747,008 S24514T probably damaging Het
Txndc16 T C 14: 45,145,027 E587G probably benign Het
Ubr4 A T 4: 139,429,611 K2316* probably null Het
Usp20 T A 2: 31,016,305 C562S probably damaging Het
Vat1 A T 11: 101,465,742 V131E probably damaging Het
Vgll1 A C X: 57,092,430 K53T probably damaging Het
Zfp592 G A 7: 81,024,796 V503M probably damaging Het
Zfp786 A G 6: 47,826,997 V37A probably damaging Het
Zscan30 A G 18: 23,971,116 noncoding transcript Het
Other mutations in Anapc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02209:Anapc5 APN 5 122800613 missense possibly damaging 0.95
IGL03158:Anapc5 APN 5 122817897 missense probably benign
R0137:Anapc5 UTSW 5 122800632 missense probably damaging 1.00
R0319:Anapc5 UTSW 5 122818856 missense probably damaging 0.99
R0326:Anapc5 UTSW 5 122814604 missense probably benign 0.40
R0399:Anapc5 UTSW 5 122791753 missense probably damaging 0.99
R0633:Anapc5 UTSW 5 122800632 missense probably damaging 1.00
R1173:Anapc5 UTSW 5 122788418 missense possibly damaging 0.49
R1723:Anapc5 UTSW 5 122799343 missense probably damaging 0.96
R2018:Anapc5 UTSW 5 122800524 missense probably damaging 1.00
R4211:Anapc5 UTSW 5 122817905 missense probably benign
R4287:Anapc5 UTSW 5 122800601 missense probably benign 0.02
R4533:Anapc5 UTSW 5 122791735 missense possibly damaging 0.86
R4905:Anapc5 UTSW 5 122817910 missense probably benign 0.00
R5336:Anapc5 UTSW 5 122807337 missense probably damaging 1.00
R5499:Anapc5 UTSW 5 122788413 missense probably damaging 1.00
R5568:Anapc5 UTSW 5 122791925 utr 3 prime probably benign
R6481:Anapc5 UTSW 5 122800544 missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TGTAATGACCCACCCCTAAATG -3'
(R):5'- TGAGACGAAGCTTTCCATAGTATG -3'

Sequencing Primer
(F):5'- TGCACACCATCAAGCAGGGAG -3'
(R):5'- GTTAACTGGATTTCCCCC -3'
Posted On2014-09-18