Incidental Mutation 'R0514:Anapc1'
ID 48080
Institutional Source Beutler Lab
Gene Symbol Anapc1
Ensembl Gene ENSMUSG00000014355
Gene Name anaphase promoting complex subunit 1
Synonyms Apc1, tsg24, Mcpr, 2610021O03Rik
MMRRC Submission 038708-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0514 (G1)
Quality Score 180
Status Not validated
Chromosome 2
Chromosomal Location 128452024-128529311 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128474575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1413 (L1413F)
Ref Sequence ENSEMBL: ENSMUSP00000014499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014499]
AlphaFold P53995
Predicted Effect probably damaging
Transcript: ENSMUST00000014499
AA Change: L1413F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: L1413F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154995
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,197,177 (GRCm39) Y154F probably damaging Het
Acsl6 A T 11: 54,241,406 (GRCm39) D579V probably damaging Het
Adamts18 C T 8: 114,465,401 (GRCm39) probably null Het
Adamts20 A T 15: 94,168,257 (GRCm39) V1882D probably damaging Het
Add3 A T 19: 53,225,274 (GRCm39) K465* probably null Het
Ago1 T G 4: 126,333,388 (GRCm39) I524L probably benign Het
Akr1c18 A G 13: 4,187,190 (GRCm39) M208T probably benign Het
Arid4b A T 13: 14,358,902 (GRCm39) D646V probably damaging Het
Arnt2 T C 7: 83,954,067 (GRCm39) E261G probably benign Het
Bccip C T 7: 133,320,859 (GRCm39) T211I possibly damaging Het
Bsn T C 9: 108,002,981 (GRCm39) S475G probably benign Het
Cdh26 G A 2: 178,108,621 (GRCm39) probably null Het
Ceacam2 A G 7: 25,220,356 (GRCm39) F414S probably benign Het
Cep43 A G 17: 8,410,266 (GRCm39) N342S possibly damaging Het
Cfb T C 17: 35,079,874 (GRCm39) R172G probably damaging Het
Cntnap5b A C 1: 99,700,511 (GRCm39) T8P probably benign Het
Cpne9 A T 6: 113,266,974 (GRCm39) I136L probably damaging Het
Crtc1 A T 8: 70,855,079 (GRCm39) probably null Het
Dcdc2a A T 13: 25,303,369 (GRCm39) H300L probably benign Het
Dhdh C T 7: 45,138,130 (GRCm39) V20M probably benign Het
Dhx34 T C 7: 15,944,462 (GRCm39) Q584R probably benign Het
Dis3l2 A G 1: 86,974,814 (GRCm39) Y701C probably damaging Het
Dmrt2 T C 19: 25,653,019 (GRCm39) probably null Het
Dnah5 A G 15: 28,366,467 (GRCm39) T2727A probably damaging Het
Dop1a A G 9: 86,402,787 (GRCm39) E1329G probably damaging Het
Evpl A G 11: 116,114,117 (GRCm39) V1191A probably damaging Het
Fhl4 T C 10: 84,934,250 (GRCm39) D177G probably damaging Het
Gask1a A G 9: 121,807,418 (GRCm39) T521A possibly damaging Het
Heg1 A G 16: 33,547,126 (GRCm39) T662A possibly damaging Het
Ifih1 A G 2: 62,453,735 (GRCm39) probably null Het
Il13 T C 11: 53,523,345 (GRCm39) R87G possibly damaging Het
Kcnc3 T A 7: 44,245,352 (GRCm39) Y547* probably null Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,071,693 (GRCm39) G860D probably benign Het
Lmo7 T C 14: 102,124,609 (GRCm39) L356P probably damaging Het
Lmo7 A T 14: 102,133,995 (GRCm39) K447I probably damaging Het
Lrp2bp A G 8: 46,464,995 (GRCm39) H38R probably damaging Het
Magi3 G A 3: 103,922,338 (GRCm39) P1460S probably damaging Het
Megf8 T A 7: 25,063,728 (GRCm39) C2695S possibly damaging Het
Mrgprb2 T G 7: 48,201,718 (GRCm39) S336R probably benign Het
Mrgprx2 C T 7: 48,132,712 (GRCm39) M1I probably null Het
Mug2 T C 6: 122,058,558 (GRCm39) L1320P probably damaging Het
Noxred1 A G 12: 87,273,838 (GRCm39) S68P probably benign Het
Or51f5 T A 7: 102,424,539 (GRCm39) H269Q probably benign Het
Or56b1b T A 7: 108,164,879 (GRCm39) Y41F probably damaging Het
Os9 C T 10: 126,955,508 (GRCm39) C123Y probably damaging Het
Ostf1 T A 19: 18,573,723 (GRCm39) T42S probably benign Het
Parg C A 14: 31,976,517 (GRCm39) T186K possibly damaging Het
Pcnx1 T A 12: 82,041,884 (GRCm39) M2172K probably benign Het
Pip4k2a A G 2: 18,850,747 (GRCm39) I360T probably damaging Het
Pkn2 T C 3: 142,516,219 (GRCm39) D568G possibly damaging Het
Plch2 A G 4: 155,083,343 (GRCm39) S431P probably damaging Het
Prl8a6 A T 13: 27,616,990 (GRCm39) C233* probably null Het
Prox1 G A 1: 189,893,653 (GRCm39) T264I probably damaging Het
Prr5 A G 15: 84,586,967 (GRCm39) N248S probably benign Het
Psip1 A C 4: 83,378,274 (GRCm39) S407R probably damaging Het
Rab32 A T 10: 10,426,640 (GRCm39) V102E probably damaging Het
Rap1gap2 T G 11: 74,279,680 (GRCm39) K687Q possibly damaging Het
Rbak A T 5: 143,159,169 (GRCm39) V628E probably damaging Het
Rnf148 T C 6: 23,654,792 (GRCm39) E68G possibly damaging Het
Rnf212 A T 5: 108,897,308 (GRCm39) S3T probably damaging Het
Rrad T G 8: 105,355,259 (GRCm39) I250L probably benign Het
Sall4 T C 2: 168,597,625 (GRCm39) H405R probably damaging Het
Scn9a T C 2: 66,314,022 (GRCm39) R1888G probably damaging Het
Setd5 G T 6: 113,096,398 (GRCm39) E535* probably null Het
Slc20a1 C T 2: 129,041,811 (GRCm39) S58L probably damaging Het
Slc31a1 A G 4: 62,303,841 (GRCm39) probably benign Het
Slc38a11 G T 2: 65,147,209 (GRCm39) Q423K probably benign Het
Snrpd1 A T 18: 10,626,846 (GRCm39) T38S possibly damaging Het
Taar4 A G 10: 23,836,780 (GRCm39) D130G probably damaging Het
Tfb2m C T 1: 179,358,869 (GRCm39) R338H probably benign Het
Tm2d2 A G 8: 25,512,742 (GRCm39) I197V possibly damaging Het
Tmem132a C T 19: 10,836,355 (GRCm39) G725D probably damaging Het
Tmem67 T C 4: 12,089,317 (GRCm39) T38A probably benign Het
Tmprss15 A T 16: 78,765,155 (GRCm39) S816T probably benign Het
Tnfrsf11a A G 1: 105,754,717 (GRCm39) E263G probably damaging Het
Tnfrsf17 C T 16: 11,133,191 (GRCm39) L90F probably benign Het
Tpr A G 1: 150,278,024 (GRCm39) K117E possibly damaging Het
Trim43a C T 9: 88,466,389 (GRCm39) Q5* probably null Het
Ubn1 A T 16: 4,890,935 (GRCm39) D498V probably damaging Het
Vipr1 T A 9: 121,487,115 (GRCm39) C63S probably damaging Het
Vmn1r237 T A 17: 21,534,932 (GRCm39) H218Q possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r95 T C 17: 18,671,844 (GRCm39) V527A probably benign Het
Vmn2r97 A T 17: 19,134,734 (GRCm39) T51S probably benign Het
Vwa8 G A 14: 79,184,629 (GRCm39) V376I probably benign Het
Wdfy4 T A 14: 32,802,732 (GRCm39) T1838S probably benign Het
Zcwpw1 A T 5: 137,794,945 (GRCm39) E47V probably benign Het
Zeb2 T C 2: 44,892,659 (GRCm39) E130G possibly damaging Het
Zfp111 A G 7: 23,898,568 (GRCm39) Y348H probably damaging Het
Zfp53 T C 17: 21,729,271 (GRCm39) S435P probably 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
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'- GGGAAGACCTGGACATTTTAGCTGTG -3'
(R):5'- CTCCAAACCCTCAATACTTGGATCGTG -3'

Sequencing Primer
(F):5'- tccttacgcaccagcatc -3'
(R):5'- GTTGTTAGTTGGGAACGAATTCTTAG -3'
Posted On 2013-06-12