Incidental Mutation 'IGL01432:Anapc1'
ID84202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anapc1
Ensembl Gene ENSMUSG00000014355
Gene Nameanaphase promoting complex subunit 1
Synonyms2610021O03Rik, tsg24, Apc1, Mcpr
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01432
Quality Score
Status
Chromosome2
Chromosomal Location128610104-128687391 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 128633408 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 1384 (A1384S)
Ref Sequence ENSEMBL: ENSMUSP00000014499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014499]
Predicted Effect probably damaging
Transcript: ENSMUST00000014499
AA Change: A1384S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: A1384S

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
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,003,759 V3166E possibly damaging Het
Aldh9a1 T C 1: 167,355,785 S191P probably damaging Het
Aldoart2 A T 12: 55,565,781 I164F probably damaging Het
Arid5a T G 1: 36,319,433 S429A possibly damaging Het
Asxl1 A G 2: 153,400,205 K892E probably benign Het
Bpnt1 G A 1: 185,354,021 W261* probably null Het
Calu A G 6: 29,356,553 D26G possibly damaging Het
Ccdc113 C T 8: 95,538,257 probably benign Het
Cd109 T C 9: 78,698,123 Y1003H probably benign Het
Cdh9 A G 15: 16,830,947 K290R probably damaging Het
Cep131 G A 11: 120,077,009 A140V possibly damaging Het
Chn1 A T 2: 73,631,752 C236S probably damaging Het
Cntn4 T A 6: 106,678,334 probably benign Het
Crispld1 A T 1: 17,746,801 Q194L probably benign Het
Csmd3 A G 15: 47,733,499 V1981A probably damaging Het
Cttn A G 7: 144,461,306 I55T probably damaging Het
Ddx46 G T 13: 55,638,022 probably benign Het
Diaph1 A T 18: 37,897,504 I299N unknown Het
Dll1 A G 17: 15,368,506 Y636H probably damaging Het
Eng A T 2: 32,669,532 Q111L possibly damaging Het
Exoc6 T C 19: 37,589,876 V389A possibly damaging Het
Fbxw26 T A 9: 109,717,975 T461S probably benign Het
Gbf1 T C 19: 46,279,995 Y1269H probably damaging Het
Gm10436 T C 12: 88,176,432 K139E probably benign Het
Gm5852 A G 3: 93,727,779 Y90H possibly damaging Het
Gnrhr C T 5: 86,182,193 G323R probably damaging Het
Gpr155 T A 2: 73,351,885 E661D possibly damaging Het
Grik4 A T 9: 42,521,176 C842S probably damaging Het
Iws1 A G 18: 32,083,466 probably benign Het
Kif5c A G 2: 49,701,077 T314A probably damaging Het
Klhdc1 A C 12: 69,251,977 K112T probably damaging Het
Kmt2a T C 9: 44,809,096 T3865A unknown Het
Lgr5 T C 10: 115,453,092 K477R probably damaging Het
Ly75 A T 2: 60,376,007 L106Q probably damaging Het
Mcph1 T A 8: 18,625,639 M26K probably damaging Het
Mettl2 T C 11: 105,126,522 V9A probably benign Het
Mgat5b A G 11: 116,973,376 D456G probably benign Het
Mstn A G 1: 53,066,530 T344A possibly damaging Het
Npr1 T A 3: 90,463,236 I308F possibly damaging Het
Oasl1 G A 5: 114,937,407 V509M probably benign Het
Obscn T C 11: 59,033,757 M5727V probably benign Het
Olfr1219 T A 2: 89,074,201 I297F probably benign Het
Olfr262 A G 19: 12,241,527 S45P probably damaging Het
Olfr710 T C 7: 106,944,541 I153M possibly damaging Het
Olfr726 T A 14: 50,083,947 T245S probably benign Het
Pcgf1 T C 6: 83,078,417 I11T possibly damaging Het
Phactr3 T C 2: 178,283,100 V276A probably benign Het
Pla2g6 A T 15: 79,317,968 M1K probably null Het
Plec T C 15: 76,190,528 E413G probably damaging Het
Plxna2 G T 1: 194,644,318 A187S possibly damaging Het
Polq A T 16: 37,071,822 probably benign Het
Prss39 A G 1: 34,502,135 D240G probably benign Het
Ptpn12 A T 5: 20,998,555 Y408* probably null Het
Ptprt A G 2: 162,268,079 probably benign Het
Rnf6 A T 5: 146,216,121 S95T possibly damaging Het
Ryr2 T C 13: 11,851,204 S287G possibly damaging Het
Samd4b A G 7: 28,414,066 F158S possibly damaging Het
Slco1a5 T A 6: 142,236,286 I571L possibly damaging Het
Smchd1 T C 17: 71,431,290 T527A probably damaging Het
Smg9 T C 7: 24,421,266 probably null Het
Snx25 A G 8: 46,105,160 L270P probably damaging Het
Ssh1 G T 5: 113,958,822 T165N probably benign Het
Stk24 T A 14: 121,302,806 E127V probably damaging Het
Suco A G 1: 161,834,120 V914A probably damaging Het
Tbcd T A 11: 121,475,680 probably benign Het
Tbcel A T 9: 42,444,521 L114Q possibly damaging Het
Trpm1 A G 7: 64,235,019 D816G probably benign Het
Uhrf1 G A 17: 56,318,250 V566M probably damaging Het
Ulk4 T A 9: 121,266,301 E95D probably damaging Het
Vmn1r40 T C 6: 89,714,219 M6T probably benign Het
Vmn2r59 C T 7: 42,012,559 V611I possibly damaging Het
Vwde G T 6: 13,193,240 H367N probably benign Het
Wdr66 A G 5: 123,279,952 I81M possibly damaging Het
Xpo6 A G 7: 126,124,381 V585A probably benign Het
Other mutations in Anapc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Anapc1 APN 2 128645130 splice site probably benign
IGL00704:Anapc1 APN 2 128663984 missense possibly damaging 0.48
IGL01023:Anapc1 APN 2 128629729 missense probably damaging 1.00
IGL01549:Anapc1 APN 2 128653170 missense probably benign
IGL02089:Anapc1 APN 2 128663933 missense probably damaging 1.00
IGL02275:Anapc1 APN 2 128659852 missense probably benign
IGL02570:Anapc1 APN 2 128645200 missense probably damaging 1.00
IGL02597:Anapc1 APN 2 128623931 missense probably benign 0.02
IGL02726:Anapc1 APN 2 128659785 missense probably benign 0.05
IGL03265:Anapc1 APN 2 128627197 missense probably damaging 1.00
IGL03304:Anapc1 APN 2 128627113 splice site probably benign
IGL03327:Anapc1 APN 2 128623934 missense probably benign 0.00
R0023:Anapc1 UTSW 2 128678218 missense probably damaging 0.99
R0027:Anapc1 UTSW 2 128641511 missense possibly damaging 0.96
R0027:Anapc1 UTSW 2 128641511 missense possibly damaging 0.96
R0084:Anapc1 UTSW 2 128623966 splice site probably benign
R0103:Anapc1 UTSW 2 128680452 splice site probably benign
R0103:Anapc1 UTSW 2 128680452 splice site probably benign
R0109:Anapc1 UTSW 2 128634693 missense probably damaging 1.00
R0109:Anapc1 UTSW 2 128634693 missense probably damaging 1.00
R0241:Anapc1 UTSW 2 128628629 missense possibly damaging 0.89
R0241:Anapc1 UTSW 2 128628629 missense possibly damaging 0.89
R0255:Anapc1 UTSW 2 128634711 missense probably damaging 0.99
R0377:Anapc1 UTSW 2 128641340 critical splice donor site probably null
R0467:Anapc1 UTSW 2 128669043 missense probably damaging 0.99
R0514:Anapc1 UTSW 2 128632655 missense probably damaging 0.99
R0591:Anapc1 UTSW 2 128619332 missense probably benign 0.17
R0919:Anapc1 UTSW 2 128617731 missense probably benign
R1175:Anapc1 UTSW 2 128680188 missense probably damaging 1.00
R1473:Anapc1 UTSW 2 128617697 missense possibly damaging 0.88
R1547:Anapc1 UTSW 2 128617556 missense probably benign 0.44
R1556:Anapc1 UTSW 2 128624899 missense probably benign 0.00
R1567:Anapc1 UTSW 2 128617716 missense probably damaging 1.00
R1635:Anapc1 UTSW 2 128628532 missense probably damaging 1.00
R1645:Anapc1 UTSW 2 128658246 critical splice donor site probably null
R1677:Anapc1 UTSW 2 128676208 missense probably benign 0.09
R1854:Anapc1 UTSW 2 128675890 missense probably damaging 1.00
R1856:Anapc1 UTSW 2 128659788 missense probably damaging 0.96
R1959:Anapc1 UTSW 2 128633415 missense probably benign 0.36
R1984:Anapc1 UTSW 2 128669688 missense possibly damaging 0.85
R2034:Anapc1 UTSW 2 128648458 missense possibly damaging 0.92
R2283:Anapc1 UTSW 2 128642548 missense probably benign 0.23
R2928:Anapc1 UTSW 2 128680137 missense probably damaging 1.00
R3547:Anapc1 UTSW 2 128642682 missense possibly damaging 0.58
R3904:Anapc1 UTSW 2 128642519 missense probably damaging 1.00
R4156:Anapc1 UTSW 2 128627229 intron probably benign
R4359:Anapc1 UTSW 2 128623556 missense possibly damaging 0.64
R4392:Anapc1 UTSW 2 128676249 critical splice acceptor site probably null
R4574:Anapc1 UTSW 2 128627195 missense probably damaging 1.00
R4682:Anapc1 UTSW 2 128664005 missense probably benign 0.05
R4770:Anapc1 UTSW 2 128686060 splice site probably benign
R4824:Anapc1 UTSW 2 128628690 missense possibly damaging 0.69
R4960:Anapc1 UTSW 2 128684594 missense probably benign 0.23
R5016:Anapc1 UTSW 2 128607175 unclassified probably benign
R5063:Anapc1 UTSW 2 128629549 missense possibly damaging 0.48
R5128:Anapc1 UTSW 2 128659917 missense probably benign
R5271:Anapc1 UTSW 2 128685985 nonsense probably null
R5363:Anapc1 UTSW 2 128650194 critical splice donor site probably null
R5469:Anapc1 UTSW 2 128675701 nonsense probably null
R5473:Anapc1 UTSW 2 128607195 unclassified probably benign
R5559:Anapc1 UTSW 2 128680434 nonsense probably null
R5631:Anapc1 UTSW 2 128657217 missense possibly damaging 0.85
R5747:Anapc1 UTSW 2 128624916 missense probably benign 0.19
R5840:Anapc1 UTSW 2 128607037 unclassified probably benign
R6226:Anapc1 UTSW 2 128650372 missense probably damaging 1.00
R6526:Anapc1 UTSW 2 128672135 nonsense probably null
R6561:Anapc1 UTSW 2 128663999 missense probably damaging 0.98
R6743:Anapc1 UTSW 2 128684534 nonsense probably null
R6799:Anapc1 UTSW 2 128659737 missense probably null 0.38
R6887:Anapc1 UTSW 2 128659768 missense possibly damaging 0.91
R6978:Anapc1 UTSW 2 128669900 missense probably benign 0.06
R7011:Anapc1 UTSW 2 128648681 intron probably null
R7041:Anapc1 UTSW 2 128628656 missense possibly damaging 0.88
R7047:Anapc1 UTSW 2 128615430 missense probably damaging 0.96
R7074:Anapc1 UTSW 2 128678274 missense probably damaging 1.00
R7109:Anapc1 UTSW 2 128674602 missense probably benign 0.33
R7123:Anapc1 UTSW 2 128613010 missense probably damaging 1.00
R7309:Anapc1 UTSW 2 128674684 missense probably damaging 0.96
R7693:Anapc1 UTSW 2 128641537 missense possibly damaging 0.86
R7839:Anapc1 UTSW 2 128684608 missense probably damaging 0.99
R7847:Anapc1 UTSW 2 128669908 missense possibly damaging 0.93
R7922:Anapc1 UTSW 2 128684608 missense probably damaging 0.99
R7930:Anapc1 UTSW 2 128669908 missense possibly damaging 0.93
R8061:Anapc1 UTSW 2 128648488 missense not run
X0066:Anapc1 UTSW 2 128674701 missense probably benign 0.10
Posted On2013-11-11