Incidental Mutation 'R9516:Anapc1'
ID 718531
Institutional Source Beutler Lab
Gene Symbol Anapc1
Ensembl Gene ENSMUSG00000014355
Gene Name anaphase promoting complex subunit 1
Synonyms Apc1, tsg24, Mcpr, 2610021O03Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 128452024-128529311 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 128517633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 337 (L337R)
Ref Sequence ENSEMBL: ENSMUSP00000014499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014499] [ENSMUST00000110333]
AlphaFold P53995
Predicted Effect possibly damaging
Transcript: ENSMUST00000014499
AA Change: L337R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: L337R

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 probably benign
Transcript: ENSMUST00000110333
AA Change: L337R

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105962
Gene: ENSMUSG00000014355
AA Change: L337R

DomainStartEndE-ValueType
Pfam:Apc1 149 227 1.7e-22 PFAM
low complexity region 323 345 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik T C 2: 150,153,122 (GRCm39) N88D possibly damaging Het
4933430I17Rik A G 4: 62,460,916 (GRCm39) I264V probably benign Het
Abcc8 A G 7: 45,787,429 (GRCm39) F591L probably benign Het
Abr G T 11: 76,310,658 (GRCm39) T810K probably damaging Het
Abracl T C 10: 17,894,631 (GRCm39) E6G unknown Het
Adamts3 A T 5: 89,834,750 (GRCm39) Y871N probably damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Alas1 A G 9: 106,115,840 (GRCm39) probably null Het
Apaf1 T C 10: 90,915,816 (GRCm39) Y24C probably damaging Het
Arhgef16 A G 4: 154,365,432 (GRCm39) V561A possibly damaging Het
Atp10b T A 11: 43,121,224 (GRCm39) H962Q probably benign Het
Brsk2 A G 7: 141,546,852 (GRCm39) T432A probably benign Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Caps2 A T 10: 112,036,637 (GRCm39) H399L probably benign Het
Ccdc43 C A 11: 102,577,207 (GRCm39) K199N probably benign Het
Ccdc7a G T 8: 129,555,774 (GRCm39) P1198T unknown Het
Cct7 A G 6: 85,444,625 (GRCm39) Y423C possibly damaging Het
Cep112 A G 11: 108,648,514 (GRCm39) T783A probably damaging Het
Cep250 A G 2: 155,833,459 (GRCm39) T1795A probably benign Het
Clasp1 T G 1: 118,431,560 (GRCm39) S397A possibly damaging Het
Clock A C 5: 76,377,227 (GRCm39) F691V possibly damaging Het
Cmklr1 A G 5: 113,752,341 (GRCm39) V220A probably benign Het
Coro2b A T 9: 62,335,291 (GRCm39) Y298* probably null Het
Cspg4b A T 13: 113,455,649 (GRCm39) N565I Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dlk2 G A 17: 46,613,432 (GRCm39) G186D probably damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dok3 A G 13: 55,672,186 (GRCm39) I164T probably benign Het
Ercc5 T A 1: 44,207,041 (GRCm39) D651E probably damaging Het
Erp27 T C 6: 136,885,066 (GRCm39) K244R probably benign Het
Fhip1a G A 3: 85,580,559 (GRCm39) Q549* probably null Het
Flvcr2 T C 12: 85,793,954 (GRCm39) V110A possibly damaging Het
Gsta3 T C 1: 21,320,060 (GRCm39) L22P probably damaging Het
Hdac5 T C 11: 102,093,522 (GRCm39) T493A probably benign Het
Hivep2 T A 10: 14,005,523 (GRCm39) I707N probably benign Het
Hmox1 A G 8: 75,823,544 (GRCm39) N71D probably benign Het
Hnrnpr G T 4: 136,063,615 (GRCm39) V342F probably damaging Het
Ifi44 T C 3: 151,438,108 (GRCm39) D393G probably damaging Het
Ighv1-82 A T 12: 115,916,566 (GRCm39) F9I probably damaging Het
Kalrn A G 16: 33,854,864 (GRCm39) S1999P probably damaging Het
Kcnq2 A G 2: 180,776,753 (GRCm39) S45P probably benign Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Kti12 T C 4: 108,705,476 (GRCm39) V130A probably benign Het
Lama2 T C 10: 27,100,015 (GRCm39) E830G probably benign Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Med13 A T 11: 86,179,801 (GRCm39) N1382K probably benign Het
Mrpl42 A G 10: 95,332,684 (GRCm39) probably null Het
Mtor A G 4: 148,569,103 (GRCm39) D1140G probably benign Het
Mtrr A G 13: 68,720,755 (GRCm39) I280T probably benign Het
Myh4 A T 11: 67,139,290 (GRCm39) I536F probably damaging Het
Myh4 T A 11: 67,141,129 (GRCm39) N730K probably damaging Het
Nat10 A C 2: 103,563,364 (GRCm39) L545R probably damaging Het
Nav3 T A 10: 109,520,015 (GRCm39) D2356V probably damaging Het
Nbea A T 3: 55,937,366 (GRCm39) S748R probably damaging Het
Nlrp1a T C 11: 70,998,488 (GRCm39) T904A probably benign Het
Nod2 A T 8: 89,397,050 (GRCm39) N820I probably damaging Het
Nptx1 A G 11: 119,433,381 (GRCm39) V406A probably damaging Het
Nrdc T A 4: 108,901,863 (GRCm39) I644K probably benign Het
Or4e1 T C 14: 52,700,873 (GRCm39) I198V probably benign Het
Ostf1 T A 19: 18,573,735 (GRCm39) I38F probably benign Het
Pacc1 G A 1: 191,082,004 (GRCm39) R337Q probably damaging Het
Pde4b G T 4: 102,462,183 (GRCm39) D605Y probably damaging Het
Pde4d A G 13: 109,397,196 (GRCm39) T3A Het
Pknox1 A G 17: 31,822,183 (GRCm39) I317V probably damaging Het
Plekhh2 A G 17: 84,918,240 (GRCm39) N1283S probably benign Het
Ppp3cb G A 14: 20,573,868 (GRCm39) A289V probably damaging Het
Prag1 A G 8: 36,607,208 (GRCm39) D983G probably damaging Het
Psmd13 C T 7: 140,478,455 (GRCm39) T62M Het
Rab42 C T 4: 132,029,890 (GRCm39) V111I Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Rapgef6 T A 11: 54,582,169 (GRCm39) S1365R probably damaging Het
Rassf4 G T 6: 116,617,265 (GRCm39) H247N possibly damaging Het
Rbfox1 A G 16: 7,227,573 (GRCm39) T363A probably benign Het
Rbmyf9 T A Y: 3,774,888 (GRCm39) F28L probably damaging Het
Sbf1 T C 15: 89,184,742 (GRCm39) D1091G probably damaging Het
Scaper A G 9: 55,593,275 (GRCm39) V454A probably benign Het
Selenbp2 G A 3: 94,607,352 (GRCm39) D258N probably benign Het
Sirpa A T 2: 129,457,555 (GRCm39) I210F probably damaging Het
Skint4 T C 4: 112,015,236 (GRCm39) S434P probably benign Het
Slc26a5 G A 5: 22,016,337 (GRCm39) Q682* probably null Het
Slco4a1 C T 2: 180,115,943 (GRCm39) S693F possibly damaging Het
Smpd3 A G 8: 106,992,119 (GRCm39) F145L probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Spata31d1c A T 13: 65,184,040 (GRCm39) L527F probably damaging Het
Srd5a3 A G 5: 76,297,794 (GRCm39) N199D probably benign Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Sytl1 A G 4: 132,986,291 (GRCm39) probably null Het
Tas2r126 A G 6: 42,412,307 (GRCm39) H280R probably null Het
Tcf4 C T 18: 69,652,944 (GRCm39) probably benign Het
Tlcd2 A G 11: 75,359,112 (GRCm39) T28A probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem119 A G 5: 113,933,267 (GRCm39) L178P probably damaging Het
Tmprss7 T C 16: 45,484,564 (GRCm39) D532G probably benign Het
Tnfaip8l3 A G 9: 53,934,777 (GRCm39) I66T probably benign Het
Tor1b A G 2: 30,843,185 (GRCm39) Y50C probably damaging Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trip12 A T 1: 84,735,215 (GRCm39) V932E probably damaging Het
Ttn T A 2: 76,777,104 (GRCm39) T1479S unknown Het
Unc13c A T 9: 73,392,220 (GRCm39) V2044D probably damaging Het
Usp25 T G 16: 76,852,076 (GRCm39) V197G probably damaging Het
Vmn2r34 A G 7: 7,675,366 (GRCm39) V674A probably benign Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp821 A G 8: 110,447,856 (GRCm39) T66A probably damaging Het
Zfp97 T A 17: 17,365,930 (GRCm39) N476K possibly damaging 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
R0255:Anapc1 UTSW 2 128,476,631 (GRCm39) missense probably damaging 0.99
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
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'- ATACTGGAAACTGAGGCATCATG -3'
(R):5'- TGCTGTTTTAAAGTTCCCTGAGC -3'

Sequencing Primer
(F):5'- CTGAGGCATCATGAATTCACAAGTC -3'
(R):5'- CTGAGCAGGCAGGGACC -3'
Posted On 2022-07-18