Incidental Mutation 'R0255:Anapc1'
ID 34632
Institutional Source Beutler Lab
Gene Symbol Anapc1
Ensembl Gene ENSMUSG00000014355
Gene Name anaphase promoting complex subunit 1
Synonyms Apc1, tsg24, Mcpr, 2610021O03Rik
MMRRC Submission 038486-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0255 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128452024-128529311 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128476631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1329 (M1329K)
Ref Sequence ENSEMBL: ENSMUSP00000014499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014499]
AlphaFold P53995
Predicted Effect probably damaging
Transcript: ENSMUST00000014499
AA Change: M1329K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: M1329K

DomainStartEndE-ValueType
Pfam:ANAPC1 150 214 1.7e-13 PFAM
low complexity region 323 345 N/A INTRINSIC
low complexity region 1404 1415 N/A INTRINSIC
Pfam:PC_rep 1467 1501 8.3e-8 PFAM
low complexity region 1516 1528 N/A INTRINSIC
low complexity region 1924 1936 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154320
Meta Mutation Damage Score 0.4220 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 93% (102/110)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,907 (GRCm39) F119S probably damaging Het
Abca13 C A 11: 9,531,545 (GRCm39) Q4591K probably damaging Het
Aoah A T 13: 21,163,710 (GRCm39) K338* probably null Het
Ascc3 A T 10: 50,521,154 (GRCm39) T416S probably benign Het
Baz2a A G 10: 127,950,508 (GRCm39) T484A possibly damaging Het
Btnl6 T C 17: 34,727,477 (GRCm39) N351S probably benign Het
Cacna1s T G 1: 136,046,544 (GRCm39) I1772S possibly damaging Het
Ccdc8 A G 7: 16,729,582 (GRCm39) D357G unknown Het
Ccna1 T C 3: 54,958,049 (GRCm39) E152G probably damaging Het
Cct4 A G 11: 22,949,073 (GRCm39) D273G probably damaging Het
Cd9 A G 6: 125,440,703 (GRCm39) V96A probably damaging Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cdh20 T C 1: 109,922,036 (GRCm39) S43P probably benign Het
Cep95 G A 11: 106,702,097 (GRCm39) V365M probably benign Het
Ces1c T C 8: 93,854,152 (GRCm39) T128A probably benign Het
Chil5 A G 3: 105,926,583 (GRCm39) V82A probably damaging Het
Clmn T C 12: 104,748,023 (GRCm39) D508G probably benign Het
Cog8 A T 8: 107,775,777 (GRCm39) probably benign Het
Cst3 A T 2: 148,717,089 (GRCm39) V70E probably damaging Het
Ctcf A G 8: 106,390,671 (GRCm39) T93A possibly damaging Het
Ctsk C A 3: 95,416,188 (GRCm39) N315K probably benign Het
Cyp2j12 G T 4: 96,029,262 (GRCm39) D6E probably benign Het
Dhx34 A G 7: 15,939,917 (GRCm39) V655A probably benign Het
Dock10 T C 1: 80,583,593 (GRCm39) Y203C probably damaging Het
Dok7 A T 5: 35,221,678 (GRCm39) D26V probably damaging Het
Epha8 G A 4: 136,667,597 (GRCm39) H295Y probably damaging Het
Esf1 A G 2: 139,990,843 (GRCm39) probably benign Het
Fam83c A G 2: 155,671,672 (GRCm39) S588P probably benign Het
Fat3 G A 9: 15,881,002 (GRCm39) probably benign Het
Fhdc1 T C 3: 84,360,817 (GRCm39) probably benign Het
Frmd4b A G 6: 97,285,047 (GRCm39) V338A probably damaging Het
Fsd1l A G 4: 53,694,727 (GRCm39) T394A probably damaging Het
Gbf1 A G 19: 46,242,549 (GRCm39) probably benign Het
Glg1 G T 8: 111,886,490 (GRCm39) Q1101K possibly damaging Het
Glt8d2 T A 10: 82,487,361 (GRCm39) probably null Het
Gm19345 T C 7: 19,588,855 (GRCm39) probably benign Het
Gpr179 A T 11: 97,226,892 (GRCm39) D1754E probably benign Het
Hydin A G 8: 111,291,650 (GRCm39) T3381A probably benign Het
Igkv12-41 G A 6: 69,835,822 (GRCm39) T16I possibly damaging Het
Insl5 A G 4: 102,875,313 (GRCm39) *146Q probably null Het
Iqce A T 5: 140,651,957 (GRCm39) I655N possibly damaging Het
Irf2bp1 G A 7: 18,738,927 (GRCm39) R189H possibly damaging Het
Itprid2 T A 2: 79,490,810 (GRCm39) L976Q probably damaging Het
Itsn1 C T 16: 91,602,978 (GRCm39) probably benign Het
Kansl3 A T 1: 36,384,050 (GRCm39) I724N probably benign Het
Kcna4 T C 2: 107,126,907 (GRCm39) I547T probably damaging Het
Klk1b4 A T 7: 43,860,158 (GRCm39) I91F probably benign Het
Lmbr1 A G 5: 29,457,753 (GRCm39) S282P probably damaging Het
Lrrc17 G A 5: 21,765,967 (GRCm39) A150T probably benign Het
Lrrc2 A G 9: 110,809,966 (GRCm39) E334G possibly damaging Het
Lrrc7 G A 3: 157,866,475 (GRCm39) Q1077* probably null Het
Mapk8 A T 14: 33,109,264 (GRCm39) probably benign Het
Mast1 T A 8: 85,638,650 (GRCm39) T1560S probably benign Het
Mdh1b C A 1: 63,758,777 (GRCm39) A272S probably damaging Het
Myo15b T C 11: 115,777,109 (GRCm39) Y912H probably damaging Het
Nf1 T G 11: 79,299,525 (GRCm39) probably null Het
Nme7 T A 1: 164,172,944 (GRCm39) D218E probably damaging Het
Nsun7 T A 5: 66,446,751 (GRCm39) probably benign Het
Nxpe2 A G 9: 48,251,870 (GRCm39) probably null Het
Or1e34 A G 11: 73,778,655 (GRCm39) V181A probably benign Het
Or2ag16 G A 7: 106,352,196 (GRCm39) T133I probably benign Het
Or2n1c T G 17: 38,519,286 (GRCm39) I50R probably benign Het
Or5p53 T A 7: 107,533,375 (GRCm39) V216D probably damaging Het
P2ry1 T C 3: 60,910,951 (GRCm39) V30A probably benign Het
Pgm2 T A 5: 64,269,386 (GRCm39) I491N possibly damaging Het
Pkd1l3 A T 8: 110,365,386 (GRCm39) D1169V probably damaging Het
Poldip2 T A 11: 78,403,189 (GRCm39) S18T probably benign Het
Prg4 C T 1: 150,331,558 (GRCm39) probably benign Het
Prkab2 T A 3: 97,574,728 (GRCm39) Y241* probably null Het
Prmt7 A G 8: 106,953,839 (GRCm39) probably benign Het
Proser3 T A 7: 30,245,842 (GRCm39) R80W probably damaging Het
Prr12 A G 7: 44,699,415 (GRCm39) probably benign Het
Psmd1 A T 1: 86,006,304 (GRCm39) L223F probably damaging Het
Rab13 A G 3: 90,131,088 (GRCm39) probably benign Het
Rgl1 C T 1: 152,428,347 (GRCm39) C294Y probably damaging Het
Rpl21-ps4 C A 14: 11,227,556 (GRCm38) noncoding transcript Het
Rusc2 T C 4: 43,423,954 (GRCm39) V1036A probably damaging Het
Sae1 T A 7: 16,104,247 (GRCm39) K121* probably null Het
Sap130 C T 18: 31,813,559 (GRCm39) P539S probably damaging Het
Saxo4 C T 19: 10,452,418 (GRCm39) R364Q probably damaging Het
Scube2 A G 7: 109,424,079 (GRCm39) L475P probably damaging Het
Sec16a T C 2: 26,321,198 (GRCm39) D1298G probably damaging Het
Serpinb9b T C 13: 33,222,003 (GRCm39) F206L probably benign Het
Sh3bp1 T A 15: 78,788,534 (GRCm39) Y202* probably null Het
Shprh T A 10: 11,062,135 (GRCm39) C1177S possibly damaging Het
Slc27a6 T C 18: 58,742,937 (GRCm39) Y542H possibly damaging Het
Slc41a1 T C 1: 131,771,650 (GRCm39) probably benign Het
Slc46a1 T C 11: 78,361,625 (GRCm39) F424L probably damaging Het
Slc66a2 C T 18: 80,306,733 (GRCm39) A101V probably benign Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc6a20a A G 9: 123,493,686 (GRCm39) V65A probably damaging Het
Slc9c1 T A 16: 45,374,663 (GRCm39) S343T probably benign Het
Spcs3 C A 8: 54,981,415 (GRCm39) R60I probably benign Het
Tbc1d16 C A 11: 119,038,401 (GRCm39) R764L possibly damaging Het
Tcaf2 A T 6: 42,619,838 (GRCm39) V63E possibly damaging Het
Tmc1 G T 19: 20,766,951 (GRCm39) A750E possibly damaging Het
Tmem273 A G 14: 32,530,320 (GRCm39) K83E possibly damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tmx3 T C 18: 90,558,130 (GRCm39) I394T probably damaging Het
Trank1 G A 9: 111,195,092 (GRCm39) E1039K possibly damaging Het
Trpc4ap A G 2: 155,499,866 (GRCm39) probably benign Het
Tsen54 T C 11: 115,706,234 (GRCm39) C123R probably damaging Het
Ubtd1 A G 19: 42,020,373 (GRCm39) D39G possibly damaging Het
Vmn1r181 A T 7: 23,683,759 (GRCm39) M75L probably benign Het
Zc3h7a T C 16: 10,958,601 (GRCm39) T847A probably damaging Het
Zc3hav1 A G 6: 38,313,485 (GRCm39) C187R probably damaging Het
Zfp692 G A 11: 58,201,229 (GRCm39) probably benign Het
Zmiz1 G A 14: 25,654,919 (GRCm39) probably benign Het
Other mutations in Anapc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Anapc1 APN 2 128,487,050 (GRCm39) splice site probably benign
IGL00704:Anapc1 APN 2 128,505,904 (GRCm39) missense possibly damaging 0.48
IGL01023:Anapc1 APN 2 128,471,649 (GRCm39) missense probably damaging 1.00
IGL01432:Anapc1 APN 2 128,475,328 (GRCm39) missense probably damaging 1.00
IGL01549:Anapc1 APN 2 128,495,090 (GRCm39) missense probably benign
IGL02089:Anapc1 APN 2 128,505,853 (GRCm39) missense probably damaging 1.00
IGL02275:Anapc1 APN 2 128,501,772 (GRCm39) missense probably benign
IGL02570:Anapc1 APN 2 128,487,120 (GRCm39) missense probably damaging 1.00
IGL02597:Anapc1 APN 2 128,465,851 (GRCm39) missense probably benign 0.02
IGL02726:Anapc1 APN 2 128,501,705 (GRCm39) missense probably benign 0.05
IGL03265:Anapc1 APN 2 128,469,117 (GRCm39) missense probably damaging 1.00
IGL03304:Anapc1 APN 2 128,469,033 (GRCm39) splice site probably benign
IGL03327:Anapc1 APN 2 128,465,854 (GRCm39) missense probably benign 0.00
R0023:Anapc1 UTSW 2 128,520,138 (GRCm39) missense probably damaging 0.99
R0027:Anapc1 UTSW 2 128,483,431 (GRCm39) missense possibly damaging 0.96
R0027:Anapc1 UTSW 2 128,483,431 (GRCm39) missense possibly damaging 0.96
R0084:Anapc1 UTSW 2 128,465,886 (GRCm39) splice site probably benign
R0103:Anapc1 UTSW 2 128,522,372 (GRCm39) splice site probably benign
R0103:Anapc1 UTSW 2 128,522,372 (GRCm39) splice site probably benign
R0109:Anapc1 UTSW 2 128,476,613 (GRCm39) missense probably damaging 1.00
R0109:Anapc1 UTSW 2 128,476,613 (GRCm39) missense probably damaging 1.00
R0241:Anapc1 UTSW 2 128,470,549 (GRCm39) missense possibly damaging 0.89
R0241:Anapc1 UTSW 2 128,470,549 (GRCm39) missense possibly damaging 0.89
R0377:Anapc1 UTSW 2 128,483,260 (GRCm39) critical splice donor site probably null
R0467:Anapc1 UTSW 2 128,510,963 (GRCm39) missense probably damaging 0.99
R0514:Anapc1 UTSW 2 128,474,575 (GRCm39) missense probably damaging 0.99
R0591:Anapc1 UTSW 2 128,461,252 (GRCm39) missense probably benign 0.17
R0919:Anapc1 UTSW 2 128,459,651 (GRCm39) missense probably benign
R1175:Anapc1 UTSW 2 128,522,108 (GRCm39) missense probably damaging 1.00
R1473:Anapc1 UTSW 2 128,459,617 (GRCm39) missense possibly damaging 0.88
R1547:Anapc1 UTSW 2 128,459,476 (GRCm39) missense probably benign 0.44
R1556:Anapc1 UTSW 2 128,466,819 (GRCm39) missense probably benign 0.00
R1567:Anapc1 UTSW 2 128,459,636 (GRCm39) missense probably damaging 1.00
R1635:Anapc1 UTSW 2 128,470,452 (GRCm39) missense probably damaging 1.00
R1645:Anapc1 UTSW 2 128,500,166 (GRCm39) critical splice donor site probably null
R1677:Anapc1 UTSW 2 128,518,128 (GRCm39) missense probably benign 0.09
R1854:Anapc1 UTSW 2 128,517,810 (GRCm39) missense probably damaging 1.00
R1856:Anapc1 UTSW 2 128,501,708 (GRCm39) missense probably damaging 0.96
R1959:Anapc1 UTSW 2 128,475,335 (GRCm39) missense probably benign 0.36
R1984:Anapc1 UTSW 2 128,511,608 (GRCm39) missense possibly damaging 0.85
R2034:Anapc1 UTSW 2 128,490,378 (GRCm39) missense possibly damaging 0.92
R2283:Anapc1 UTSW 2 128,484,468 (GRCm39) missense probably benign 0.23
R2928:Anapc1 UTSW 2 128,522,057 (GRCm39) missense probably damaging 1.00
R3547:Anapc1 UTSW 2 128,484,602 (GRCm39) missense possibly damaging 0.58
R3904:Anapc1 UTSW 2 128,484,439 (GRCm39) missense probably damaging 1.00
R4156:Anapc1 UTSW 2 128,469,149 (GRCm39) intron probably benign
R4359:Anapc1 UTSW 2 128,465,476 (GRCm39) missense possibly damaging 0.64
R4392:Anapc1 UTSW 2 128,518,169 (GRCm39) critical splice acceptor site probably null
R4574:Anapc1 UTSW 2 128,469,115 (GRCm39) missense probably damaging 1.00
R4682:Anapc1 UTSW 2 128,505,925 (GRCm39) missense probably benign 0.05
R4770:Anapc1 UTSW 2 128,527,980 (GRCm39) splice site probably benign
R4824:Anapc1 UTSW 2 128,470,610 (GRCm39) missense possibly damaging 0.69
R4960:Anapc1 UTSW 2 128,526,514 (GRCm39) missense probably benign 0.23
R5016:Anapc1 UTSW 2 128,449,095 (GRCm39) unclassified probably benign
R5063:Anapc1 UTSW 2 128,471,469 (GRCm39) missense possibly damaging 0.48
R5128:Anapc1 UTSW 2 128,501,837 (GRCm39) missense probably benign
R5271:Anapc1 UTSW 2 128,527,905 (GRCm39) nonsense probably null
R5363:Anapc1 UTSW 2 128,492,114 (GRCm39) critical splice donor site probably null
R5469:Anapc1 UTSW 2 128,517,621 (GRCm39) nonsense probably null
R5473:Anapc1 UTSW 2 128,449,115 (GRCm39) unclassified probably benign
R5559:Anapc1 UTSW 2 128,522,354 (GRCm39) nonsense probably null
R5631:Anapc1 UTSW 2 128,499,137 (GRCm39) missense possibly damaging 0.85
R5747:Anapc1 UTSW 2 128,466,836 (GRCm39) missense probably benign 0.19
R5840:Anapc1 UTSW 2 128,448,957 (GRCm39) unclassified probably benign
R6226:Anapc1 UTSW 2 128,492,292 (GRCm39) missense probably damaging 1.00
R6526:Anapc1 UTSW 2 128,514,055 (GRCm39) nonsense probably null
R6561:Anapc1 UTSW 2 128,505,919 (GRCm39) missense probably damaging 0.98
R6743:Anapc1 UTSW 2 128,526,454 (GRCm39) nonsense probably null
R6799:Anapc1 UTSW 2 128,501,657 (GRCm39) missense probably null 0.38
R6887:Anapc1 UTSW 2 128,501,688 (GRCm39) missense possibly damaging 0.91
R6978:Anapc1 UTSW 2 128,511,820 (GRCm39) missense probably benign 0.06
R7011:Anapc1 UTSW 2 128,490,601 (GRCm39) splice site probably null
R7041:Anapc1 UTSW 2 128,470,576 (GRCm39) missense possibly damaging 0.88
R7047:Anapc1 UTSW 2 128,457,350 (GRCm39) missense probably damaging 0.96
R7074:Anapc1 UTSW 2 128,520,194 (GRCm39) missense probably damaging 1.00
R7109:Anapc1 UTSW 2 128,516,522 (GRCm39) missense probably benign 0.33
R7123:Anapc1 UTSW 2 128,454,930 (GRCm39) missense probably damaging 1.00
R7309:Anapc1 UTSW 2 128,516,604 (GRCm39) missense probably damaging 0.96
R7693:Anapc1 UTSW 2 128,483,457 (GRCm39) missense possibly damaging 0.86
R7839:Anapc1 UTSW 2 128,526,528 (GRCm39) missense probably damaging 0.99
R7847:Anapc1 UTSW 2 128,511,828 (GRCm39) missense possibly damaging 0.93
R7960:Anapc1 UTSW 2 128,516,513 (GRCm39) missense probably damaging 1.00
R8061:Anapc1 UTSW 2 128,490,408 (GRCm39) missense probably damaging 0.98
R8127:Anapc1 UTSW 2 128,474,547 (GRCm39) missense probably damaging 0.96
R8228:Anapc1 UTSW 2 128,461,837 (GRCm39) nonsense probably null
R8402:Anapc1 UTSW 2 128,472,148 (GRCm39) missense probably benign 0.02
R8422:Anapc1 UTSW 2 128,517,757 (GRCm39) missense probably benign
R8425:Anapc1 UTSW 2 128,511,788 (GRCm39) missense probably damaging 1.00
R8469:Anapc1 UTSW 2 128,500,264 (GRCm39) splice site probably null
R8553:Anapc1 UTSW 2 128,461,833 (GRCm39) missense possibly damaging 0.80
R8688:Anapc1 UTSW 2 128,527,748 (GRCm39) missense probably benign 0.19
R8699:Anapc1 UTSW 2 128,483,373 (GRCm39) missense probably damaging 1.00
R8719:Anapc1 UTSW 2 128,483,369 (GRCm39) missense probably damaging 1.00
R8775:Anapc1 UTSW 2 128,499,093 (GRCm39) missense possibly damaging 0.92
R8775-TAIL:Anapc1 UTSW 2 128,499,093 (GRCm39) missense possibly damaging 0.92
R8806:Anapc1 UTSW 2 128,464,333 (GRCm39) missense possibly damaging 0.67
R8973:Anapc1 UTSW 2 128,505,952 (GRCm39) missense probably damaging 0.99
R8977:Anapc1 UTSW 2 128,483,322 (GRCm39) missense probably damaging 1.00
R9000:Anapc1 UTSW 2 128,476,628 (GRCm39) missense probably damaging 1.00
R9080:Anapc1 UTSW 2 128,464,426 (GRCm39) missense possibly damaging 0.82
R9203:Anapc1 UTSW 2 128,465,422 (GRCm39) missense possibly damaging 0.66
R9314:Anapc1 UTSW 2 128,464,420 (GRCm39) missense possibly damaging 0.69
R9386:Anapc1 UTSW 2 128,459,642 (GRCm39) missense probably benign 0.08
R9415:Anapc1 UTSW 2 128,476,598 (GRCm39) missense probably benign
R9436:Anapc1 UTSW 2 128,518,045 (GRCm39) missense probably benign
R9516:Anapc1 UTSW 2 128,517,633 (GRCm39) missense possibly damaging 0.77
R9563:Anapc1 UTSW 2 128,505,980 (GRCm39) nonsense probably null
R9572:Anapc1 UTSW 2 128,505,976 (GRCm39) missense probably benign
R9757:Anapc1 UTSW 2 128,517,676 (GRCm39) missense probably damaging 1.00
R9766:Anapc1 UTSW 2 128,500,221 (GRCm39) missense probably damaging 1.00
X0066:Anapc1 UTSW 2 128,516,621 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AGTAGATCATAGCCAACGCCAGAGTAG -3'
(R):5'- GGACAAATAGGGCTTCTGAGTTGAGTG -3'

Sequencing Primer
(F):5'- GGACAAGTCACATCCACGTTTATG -3'
(R):5'- CTGGTGCAGTAATGAAAGTACTC -3'
Posted On 2013-05-09