Incidental Mutation 'R7067:Anapc4'
ID 548618
Institutional Source Beutler Lab
Gene Symbol Anapc4
Ensembl Gene ENSMUSG00000029176
Gene Name anaphase promoting complex subunit 4
Synonyms D5Ertd249e, 2610306D21Rik, APC4
MMRRC Submission 045163-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7067 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 52991477-53024076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53019577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 580 (T580A)
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: T580A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: T580A

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 probably benign
Transcript: ENSMUST00000144574
SMART Domains Protein: ENSMUSP00000114475
Gene: ENSMUSG00000029176

DomainStartEndE-ValueType
Pfam:Apc4_WD40 10 57 4e-20 PFAM
Meta Mutation Damage Score 0.0613 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Aebp1 A G 11: 5,816,431 (GRCm39) probably null Het
Afg2a C T 3: 37,485,847 (GRCm39) Q190* probably null Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Asap3 T A 4: 135,968,673 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Ccn2 A G 10: 24,472,873 (GRCm39) Y261C probably benign Het
Crtc2 A G 3: 90,167,489 (GRCm39) N271S probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Efemp1 A T 11: 28,817,926 (GRCm39) N135I probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slc30a2 T A 4: 134,071,529 (GRCm39) probably null Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G probably 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
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
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'- CCAGGAGGTTAACATCACTAAAACATG -3'

Sequencing Primer
(F):5'- GGTAATTCTCTTTACCCATTGTAAGC -3'
(R):5'- CTCGGCAGTTAAAAGCACTTG -3'
Posted On 2019-05-13