Incidental Mutation 'R5955:Anapc4'
ID 471105
Institutional Source Beutler Lab
Gene Symbol Anapc4
Ensembl Gene ENSMUSG00000029176
Gene Name anaphase promoting complex subunit 4
Synonyms D5Ertd249e, 2610306D21Rik, APC4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5955 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 52991477-53024076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 53023288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 710 (H710D)
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: H710D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: H710D

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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,801,629 (GRCm39) D632V probably damaging Het
Acbd6 C T 1: 155,463,205 (GRCm39) A135V probably benign Het
Adam26a A T 8: 44,022,889 (GRCm39) F200L probably benign Het
Ago3 A T 4: 126,248,843 (GRCm39) N569K probably damaging Het
Ak9 A T 10: 41,234,560 (GRCm39) L640F probably damaging Het
Ampd2 A G 3: 107,987,088 (GRCm39) V178A probably damaging Het
Atad2 T C 15: 57,969,055 (GRCm39) I495V probably benign Het
Bhmt2 T C 13: 93,799,705 (GRCm39) T244A probably benign Het
Capg T C 6: 72,532,483 (GRCm39) V16A probably benign Het
Capn13 A G 17: 73,637,997 (GRCm39) F469L possibly damaging Het
Ccdc149 C T 5: 52,533,877 (GRCm39) V430I probably benign Het
Cma1 A C 14: 56,181,226 (GRCm39) Y47D probably benign Het
Col6a3 A T 1: 90,739,163 (GRCm39) L355Q probably damaging Het
Cripto C A 9: 110,773,281 (GRCm39) R18L unknown Het
Crocc G T 4: 140,745,229 (GRCm39) T1796K possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dsp T C 13: 38,378,934 (GRCm39) I1294T possibly damaging Het
Erbin A T 13: 103,966,700 (GRCm39) F1250Y probably benign Het
Fbn1 A C 2: 125,200,802 (GRCm39) C1298W probably damaging Het
Fbn2 A C 18: 58,177,328 (GRCm39) F1990V probably damaging Het
Fez2 A T 17: 78,694,472 (GRCm39) V306D probably damaging Het
Gigyf1 G A 5: 137,521,769 (GRCm39) probably null Het
Gjb4 A T 4: 127,245,745 (GRCm39) Y65* probably null Het
Gm26661 G A 14: 7,791,776 (GRCm38) A64T unknown Het
Igkv1-135 T C 6: 67,587,263 (GRCm39) S45P possibly damaging Het
Il27 T C 7: 126,194,070 (GRCm39) T5A probably benign Het
Il27ra T C 8: 84,767,451 (GRCm39) D124G probably benign Het
Itgad A G 7: 127,788,653 (GRCm39) H424R probably benign Het
Itgal T C 7: 126,904,161 (GRCm39) V258A possibly damaging Het
Kpna4 A G 3: 68,997,134 (GRCm39) V351A probably benign Het
Lama5 T C 2: 179,839,267 (GRCm39) Q747R probably damaging Het
Map4k5 A G 12: 69,891,164 (GRCm39) F168L probably damaging Het
Mecom A G 3: 30,015,195 (GRCm39) Y843H probably damaging Het
Mical3 T C 6: 121,010,711 (GRCm39) M424V probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Myb A G 10: 21,028,398 (GRCm39) I155T probably damaging Het
Nbea A T 3: 55,588,404 (GRCm39) V2445E probably benign Het
Nlrp1b A T 11: 71,108,691 (GRCm39) I270N probably damaging Het
Nlrp4f A T 13: 65,342,895 (GRCm39) M250K probably benign Het
Or13c7 T A 4: 43,854,898 (GRCm39) N196K probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or52w1 C T 7: 105,017,776 (GRCm39) A72V probably damaging Het
P4ha1 A G 10: 59,178,618 (GRCm39) S96G probably benign Het
Pcnt G T 10: 76,247,456 (GRCm39) N1025K possibly damaging Het
Pgap4 T C 4: 49,586,613 (GRCm39) E185G probably damaging Het
Phactr4 A G 4: 132,114,220 (GRCm39) F58S probably damaging Het
Phlpp1 T A 1: 106,291,960 (GRCm39) probably null Het
Rab40c A C 17: 26,103,631 (GRCm39) V144G probably damaging Het
Rnasel A G 1: 153,630,146 (GRCm39) I221V probably benign Het
Rps6kb1 T C 11: 86,404,431 (GRCm39) K241E probably damaging Het
Rrbp1 C G 2: 143,791,597 (GRCm39) E1370Q probably benign Het
Rttn T C 18: 89,139,133 (GRCm39) Y2111H probably damaging Het
Samd8 A G 14: 21,843,152 (GRCm39) H364R probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Setdb1 A G 3: 95,246,153 (GRCm39) Y590H probably damaging Het
Shkbp1 T C 7: 27,041,949 (GRCm39) N635S probably benign Het
Trpm6 A G 19: 18,869,383 (GRCm39) D1990G possibly damaging Het
Usp48 A G 4: 137,343,129 (GRCm39) N426S probably benign Het
Vmn2r16 G A 5: 109,511,613 (GRCm39) V607M possibly damaging Het
Xdh A T 17: 74,205,315 (GRCm39) V1050D probably damaging Het
Zfp110 C T 7: 12,582,672 (GRCm39) T440I possibly damaging 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
R5695:Anapc4 UTSW 5 53,019,581 (GRCm39) missense probably benign 0.00
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'- CTTTCTATGTGTTTGGCATCACAG -3'
(R):5'- ACAGTTGAGGCTACTCCATGC -3'

Sequencing Primer
(F):5'- GGCATCACAGTATTTTACAAACTGTC -3'
(R):5'- GGCTACTCCATGCTTATAATTAGCAG -3'
Posted On 2017-03-31