Incidental Mutation 'R7327:Anapc4'
ID 568976
Institutional Source Beutler Lab
Gene Symbol Anapc4
Ensembl Gene ENSMUSG00000029176
Gene Name anaphase promoting complex subunit 4
Synonyms D5Ertd249e, 2610306D21Rik, APC4
MMRRC Submission 045420-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7327 (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 53002672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000031072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031072] [ENSMUST00000144574]
AlphaFold Q91W96
Predicted Effect probably damaging
Transcript: ENSMUST00000031072
AA Change: T238A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: T238A

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
Predicted Effect
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,367,430 (GRCm39) T3I probably benign Het
Ahi1 T A 10: 20,862,976 (GRCm39) V717E probably damaging Het
Arhgap27 A T 11: 103,251,367 (GRCm39) C120* probably null Het
Bdp1 A T 13: 100,178,040 (GRCm39) V1943D probably damaging Het
Cdc14b A G 13: 64,373,461 (GRCm39) V141A probably damaging Het
Cfap46 G T 7: 139,215,062 (GRCm39) probably null Het
Cgnl1 C A 9: 71,633,165 (GRCm39) R62L possibly damaging Het
Chaf1a A G 17: 56,369,573 (GRCm39) S522G probably benign Het
Cox19 A G 5: 139,328,402 (GRCm39) F37S probably damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Cyp4a12a A T 4: 115,184,756 (GRCm39) R346W probably damaging Het
Dip2a A C 10: 76,108,396 (GRCm39) C1315G probably benign Het
Dmxl2 A C 9: 54,308,869 (GRCm39) W1961G probably damaging Het
Dst T C 1: 34,240,486 (GRCm39) L1945P probably damaging Het
Efr3a A G 15: 65,691,627 (GRCm39) S92G probably damaging Het
Ep300 C T 15: 81,511,515 (GRCm39) T865I unknown Het
Ercc6 A G 14: 32,248,361 (GRCm39) E304G probably benign Het
Filip1l A C 16: 57,391,300 (GRCm39) E629D probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glb1 T C 9: 114,246,126 (GRCm39) F59S probably benign Het
Gli3 T C 13: 15,900,144 (GRCm39) L1177P probably benign Het
Gpatch2l A G 12: 86,303,646 (GRCm39) T223A probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hmcn1 A T 1: 150,479,565 (GRCm39) M4633K probably benign Het
Hoxc8 T A 15: 102,899,542 (GRCm39) Y111N probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Iqcn T A 8: 71,169,453 (GRCm39) M1181K possibly damaging Het
Iqgap2 T A 13: 95,772,163 (GRCm39) M1339L probably benign Het
Kif21b A G 1: 136,087,387 (GRCm39) Q901R possibly damaging Het
Krtap4-8 C A 11: 99,671,234 (GRCm39) C79F unknown Het
Ldb3 T C 14: 34,293,759 (GRCm39) N155S probably damaging Het
Mad2l1 T A 6: 66,516,794 (GRCm39) V162E probably benign Het
Map7 T A 10: 20,109,208 (GRCm39) V87E unknown Het
Mndal A T 1: 173,703,185 (GRCm39) D73E unknown Het
Msantd1 T C 5: 35,075,039 (GRCm39) S34P probably damaging Het
Myh14 T C 7: 44,260,977 (GRCm39) Q1838R possibly damaging Het
Myh15 G T 16: 48,993,369 (GRCm39) R1668L possibly damaging Het
Ncoa7 A G 10: 30,565,796 (GRCm39) M666T probably damaging Het
Nol6 A T 4: 41,116,686 (GRCm39) L944Q probably benign Het
Or5h27 A T 16: 59,006,376 (GRCm39) F157I unknown Het
Orc1 A G 4: 108,445,911 (GRCm39) T10A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pglyrp2 C T 17: 32,634,893 (GRCm39) A490T probably benign Het
Pirb A T 7: 3,720,187 (GRCm39) C395* probably null Het
Ppp1r11 T C 17: 37,261,900 (GRCm39) R12G possibly damaging Het
Prlr A G 15: 10,346,524 (GRCm39) D290G probably benign Het
Ptpn21 G T 12: 98,646,360 (GRCm39) R1033S probably damaging Het
Rad54l2 A G 9: 106,570,660 (GRCm39) L1220P possibly damaging Het
Rufy3 G A 5: 88,790,811 (GRCm39) R504H probably damaging Het
Scgb2b21 C T 7: 33,219,330 (GRCm39) V25I probably benign Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slain2 A T 5: 73,132,002 (GRCm39) T498S probably benign Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc30a9 A T 5: 67,499,462 (GRCm39) I307F probably damaging Het
Snap91 C T 9: 86,655,598 (GRCm39) G800R unknown Het
Tnc G T 4: 63,882,999 (GRCm39) probably null Het
Trav21-dv12 T C 14: 54,113,514 (GRCm39) probably benign Het
Txk A T 5: 72,873,226 (GRCm39) I228N probably damaging Het
Vac14 T C 8: 111,438,252 (GRCm39) Y622H probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr35 T G 12: 9,037,312 (GRCm39) M306R probably benign Het
Zan A T 5: 137,463,494 (GRCm39) S562T 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
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
R7067:Anapc4 UTSW 5 53,019,577 (GRCm39) missense probably benign
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'- ATGACTCAGAGTTGTGCCCC -3'
(R):5'- TAGCACTCCTACTGCAGGTAGC -3'

Sequencing Primer
(F):5'- TGTGCCCCAGTTGGAAATC -3'
(R):5'- CCTACTGCAGGTAGCTTTACAACATG -3'
Posted On 2019-09-13