Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Anapc1'

84202

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anapc1

Ensembl Gene

ENSMUSG00000014355

Gene Name

anaphase promoting complex subunit 1

Synonyms

2610021O03Rik, tsg24, Apc1, Mcpr

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

128610104-128687391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128633408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1384 (A1384S)

Ref Sequence

ENSEMBL: ENSMUSP00000014499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014499]

AlphaFold

P53995

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	splice site	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
R7960:Anapc1	UTSW	2	128674593	missense	probably damaging	1.00
R8061:Anapc1	UTSW	2	128648488	missense	probably damaging	0.98
R8127:Anapc1	UTSW	2	128632627	missense	probably damaging	0.96
R8228:Anapc1	UTSW	2	128619917	nonsense	probably null
R8402:Anapc1	UTSW	2	128630228	missense	probably benign	0.02
R8422:Anapc1	UTSW	2	128675837	missense	probably benign
R8425:Anapc1	UTSW	2	128669868	missense	probably damaging	1.00
R8469:Anapc1	UTSW	2	128658344	splice site	probably null
R8553:Anapc1	UTSW	2	128619913	missense	possibly damaging	0.80
R8688:Anapc1	UTSW	2	128685828	missense	probably benign	0.19
R8699:Anapc1	UTSW	2	128641453	missense	probably damaging	1.00
R8719:Anapc1	UTSW	2	128641449	missense	probably damaging	1.00
R8775:Anapc1	UTSW	2	128657173	missense	possibly damaging	0.92
R8775-TAIL:Anapc1	UTSW	2	128657173	missense	possibly damaging	0.92
R8806:Anapc1	UTSW	2	128622413	missense	possibly damaging	0.67
R8973:Anapc1	UTSW	2	128664032	missense	probably damaging	0.99
R8977:Anapc1	UTSW	2	128641402	missense	probably damaging	1.00
R9000:Anapc1	UTSW	2	128634708	missense	probably damaging	1.00
R9080:Anapc1	UTSW	2	128622506	missense	possibly damaging	0.82
R9203:Anapc1	UTSW	2	128623502	missense	possibly damaging	0.66
R9314:Anapc1	UTSW	2	128622500	missense	possibly damaging	0.69
R9386:Anapc1	UTSW	2	128617722	missense	probably benign	0.08
R9415:Anapc1	UTSW	2	128634678	missense	probably benign
R9436:Anapc1	UTSW	2	128676125	missense	probably benign
R9516:Anapc1	UTSW	2	128675713	missense	possibly damaging	0.77
R9563:Anapc1	UTSW	2	128664060	nonsense	probably null
R9572:Anapc1	UTSW	2	128664056	missense	probably benign
R9757:Anapc1	UTSW	2	128675756	missense	probably damaging	1.00
R9766:Anapc1	UTSW	2	128658301	missense	probably damaging	1.00
X0066:Anapc1	UTSW	2	128674701	missense	probably benign	0.10

Posted On

2013-11-11