Incidental Mutation 'R5695:Anapc4'
ID 443871
Institutional Source Beutler Lab
Gene Symbol Anapc4
Ensembl Gene ENSMUSG00000029176
Gene Name anaphase promoting complex subunit 4
Synonyms D5Ertd249e, 2610306D21Rik, APC4
MMRRC Submission 043326-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5695 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 52991477-53024076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53019581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 581 (S581L)
Ref Sequence ENSEMBL: ENSMUSP00000031072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031072] [ENSMUST00000144574]
AlphaFold Q91W96
Predicted Effect probably benign
Transcript: ENSMUST00000031072
AA Change: S581L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: S581L

DomainStartEndE-ValueType
Pfam:ANAPC4_WD40 10 57 9.1e-18 PFAM
low complexity region 137 147 N/A INTRINSIC
Pfam:ANAPC4 232 431 3.7e-61 PFAM
low complexity region 747 763 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142035
Predicted Effect probably benign
Transcript: ENSMUST00000144574
SMART Domains Protein: ENSMUSP00000114475
Gene: ENSMUSG00000029176

DomainStartEndE-ValueType
Pfam:Apc4_WD40 10 57 4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154980
Meta Mutation Damage Score 0.0807 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,660,745 (GRCm39) H116L probably damaging Het
Ano8 A C 8: 71,935,887 (GRCm39) D276E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Bpifb4 G A 2: 153,784,843 (GRCm39) G184S probably damaging Het
Cbx8 T C 11: 118,930,137 (GRCm39) D152G probably benign Het
Cdca2 A G 14: 67,943,078 (GRCm39) probably null Het
Cgn G A 3: 94,680,945 (GRCm39) A531V probably benign Het
Cmya5 C A 13: 93,182,374 (GRCm39) probably null Het
Cntnap3 A G 13: 64,935,769 (GRCm39) S365P probably damaging Het
Crnn A G 3: 93,056,330 (GRCm39) Q372R probably damaging Het
Ehf T A 2: 103,097,124 (GRCm39) E276V probably damaging Het
Eif4g3 T A 4: 137,890,744 (GRCm39) probably null Het
Enpep C T 3: 129,102,748 (GRCm39) D403N probably damaging Het
Enpp1 T C 10: 24,530,806 (GRCm39) E550G probably damaging Het
Entpd8 A G 2: 24,974,346 (GRCm39) D377G probably benign Het
Epc2 T A 2: 49,437,619 (GRCm39) probably null Het
Erich3 G T 3: 154,439,210 (GRCm39) G481V probably damaging Het
Fank1 A G 7: 133,471,075 (GRCm39) Y156C probably damaging Het
Fras1 A G 5: 96,929,203 (GRCm39) D3869G probably damaging Het
Gcnt2 A G 13: 41,071,675 (GRCm39) D106G probably benign Het
Gm20830 A T Y: 6,916,501 (GRCm39) V206E probably benign Het
Gmpr2 T C 14: 55,914,691 (GRCm39) V228A possibly damaging Het
Gon4l TGAGCA TGAGCAGAGCA 3: 88,803,523 (GRCm39) probably null Het
Gtpbp1 G A 15: 79,596,375 (GRCm39) probably null Het
Hhat A T 1: 192,399,327 (GRCm39) M271K probably damaging Het
Hipk2 A T 6: 38,795,810 (GRCm39) M153K possibly damaging Het
Hydin A T 8: 111,261,915 (GRCm39) H2672L probably benign Het
Igfbpl1 A T 4: 45,826,374 (GRCm39) D140E probably damaging Het
Kctd1 T G 18: 15,196,573 (GRCm39) probably benign Het
Lax1 A T 1: 133,608,316 (GRCm39) Y142N probably damaging Het
Lpin2 C T 17: 71,551,798 (GRCm39) R733C probably damaging Het
Morn4 A G 19: 42,064,556 (GRCm39) L144P possibly damaging Het
Nup214 C A 2: 31,924,385 (GRCm39) T1638K probably damaging Het
Nyap1 C T 5: 137,733,246 (GRCm39) A596T probably damaging Het
Oas1d T C 5: 121,053,074 (GRCm39) M43T probably benign Het
Or4l15 T C 14: 50,198,080 (GRCm39) T150A probably benign Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Or8b42 A G 9: 38,342,472 (GRCm39) H298R probably benign Het
Pacs1 A G 19: 5,186,819 (GRCm39) F851S probably damaging Het
Pcdh17 A G 14: 84,683,800 (GRCm39) Q89R probably damaging Het
Phrf1 A G 7: 140,838,378 (GRCm39) probably benign Het
Plekhb1 A T 7: 100,304,602 (GRCm39) I34N probably damaging Het
Ralgapa2 T C 2: 146,175,397 (GRCm39) E1800G probably damaging Het
Rbm33 A T 5: 28,544,010 (GRCm39) I89F probably damaging Het
Rtl1 T A 12: 109,560,531 (GRCm39) E436V probably damaging Het
Slc2a4 G T 11: 69,837,217 (GRCm39) P73Q probably damaging Het
Sorbs2 A T 8: 46,245,912 (GRCm39) T311S probably benign Het
Sulf2 G A 2: 165,974,678 (GRCm39) A2V probably benign Het
Supt16 A T 14: 52,411,601 (GRCm39) probably null Het
Vmn1r26 A T 6: 57,985,738 (GRCm39) N150K probably damaging Het
Vmn2r39 T A 7: 9,028,150 (GRCm39) H407L possibly damaging Het
Vmn2r84 T A 10: 130,225,064 (GRCm39) Y482F probably benign Het
Vps9d1 T C 8: 123,973,655 (GRCm39) E376G probably benign Het
Wrn C A 8: 33,814,346 (GRCm39) G366V probably benign Het
Other mutations in Anapc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Anapc4 APN 5 53,014,553 (GRCm39) missense probably damaging 0.98
IGL01066:Anapc4 APN 5 53,014,551 (GRCm39) missense probably benign 0.08
IGL01109:Anapc4 APN 5 53,005,970 (GRCm39) missense probably damaging 1.00
IGL01657:Anapc4 APN 5 53,021,968 (GRCm39) nonsense probably null
IGL02692:Anapc4 APN 5 53,021,871 (GRCm39) missense probably damaging 0.98
IGL02734:Anapc4 APN 5 53,018,633 (GRCm39) missense probably benign 0.04
IGL03089:Anapc4 APN 5 53,023,740 (GRCm39) missense probably benign 0.32
IGL03096:Anapc4 APN 5 53,023,271 (GRCm39) missense possibly damaging 0.57
FR4304:Anapc4 UTSW 5 53,021,868 (GRCm39) missense probably damaging 1.00
IGL03048:Anapc4 UTSW 5 52,997,075 (GRCm39) missense probably benign 0.00
R0331:Anapc4 UTSW 5 53,012,984 (GRCm39) splice site probably benign
R0511:Anapc4 UTSW 5 52,999,359 (GRCm39) unclassified probably benign
R0624:Anapc4 UTSW 5 53,002,761 (GRCm39) splice site probably benign
R0919:Anapc4 UTSW 5 53,012,979 (GRCm39) missense probably benign 0.18
R1935:Anapc4 UTSW 5 52,997,010 (GRCm39) missense probably damaging 0.99
R1936:Anapc4 UTSW 5 52,997,010 (GRCm39) missense probably damaging 0.99
R1942:Anapc4 UTSW 5 53,004,056 (GRCm39) missense probably benign 0.30
R1953:Anapc4 UTSW 5 52,997,030 (GRCm39) missense probably damaging 1.00
R1954:Anapc4 UTSW 5 53,003,967 (GRCm39) intron probably benign
R2341:Anapc4 UTSW 5 52,999,279 (GRCm39) unclassified probably benign
R3696:Anapc4 UTSW 5 53,019,351 (GRCm39) missense probably null 0.01
R4506:Anapc4 UTSW 5 52,993,072 (GRCm39) missense possibly damaging 0.79
R4596:Anapc4 UTSW 5 52,999,060 (GRCm39) missense probably benign 0.00
R5234:Anapc4 UTSW 5 53,006,118 (GRCm39) missense probably damaging 1.00
R5256:Anapc4 UTSW 5 53,020,936 (GRCm39) missense probably benign
R5310:Anapc4 UTSW 5 53,016,501 (GRCm39) missense probably benign 0.00
R5401:Anapc4 UTSW 5 53,020,991 (GRCm39) missense probably benign 0.01
R5409:Anapc4 UTSW 5 53,005,941 (GRCm39) missense probably damaging 0.98
R5525:Anapc4 UTSW 5 53,014,151 (GRCm39) missense probably damaging 1.00
R5575:Anapc4 UTSW 5 53,013,213 (GRCm39) missense probably damaging 1.00
R5604:Anapc4 UTSW 5 52,999,076 (GRCm39) nonsense probably null
R5955:Anapc4 UTSW 5 53,023,288 (GRCm39) missense probably benign 0.01
R5974:Anapc4 UTSW 5 53,002,742 (GRCm39) missense probably damaging 1.00
R6458:Anapc4 UTSW 5 53,021,895 (GRCm39) missense possibly damaging 0.80
R6537:Anapc4 UTSW 5 53,000,898 (GRCm39) missense probably damaging 0.98
R6633:Anapc4 UTSW 5 53,023,288 (GRCm39) missense possibly damaging 0.85
R6860:Anapc4 UTSW 5 53,006,170 (GRCm39) missense probably damaging 1.00
R6965:Anapc4 UTSW 5 52,993,093 (GRCm39) missense possibly damaging 0.89
R7067:Anapc4 UTSW 5 53,019,577 (GRCm39) missense probably benign
R7327:Anapc4 UTSW 5 53,002,672 (GRCm39) missense probably damaging 0.99
R7442:Anapc4 UTSW 5 53,014,543 (GRCm39) missense probably benign 0.08
R7837:Anapc4 UTSW 5 53,016,550 (GRCm39) critical splice donor site probably null
R8382:Anapc4 UTSW 5 53,016,277 (GRCm39) splice site probably null
R8840:Anapc4 UTSW 5 53,016,473 (GRCm39) missense probably damaging 0.98
R8914:Anapc4 UTSW 5 53,000,843 (GRCm39) nonsense probably null
R8972:Anapc4 UTSW 5 53,007,884 (GRCm39) missense possibly damaging 0.88
R9037:Anapc4 UTSW 5 53,021,843 (GRCm39) missense probably benign 0.16
R9211:Anapc4 UTSW 5 53,007,994 (GRCm39) missense possibly damaging 0.74
R9269:Anapc4 UTSW 5 53,018,620 (GRCm39) missense possibly damaging 0.92
R9294:Anapc4 UTSW 5 53,021,867 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- GGAAGATCGATGAATCAAGCAATTTGC -3'
(R):5'- GCCAGGAGGTTAACATCACTAAAAC -3'

Sequencing Primer
(F):5'- GGTAATTCTCTTTACCCATTGTAAGC -3'
(R):5'- CTCGGCAGTTAAAAGCACTTG -3'
Posted On 2016-11-09