Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02089:Anapc1'

279358

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

128610104-128687391 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128663933 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 661 (V661E)

Ref Sequence

ENSEMBL: ENSMUSP00000014499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014499] [ENSMUST00000110333]

Predicted Effect

probably damaging
Transcript: ENSMUST00000014499
AA Change: V661E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: V661E

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

possibly damaging
Transcript: ENSMUST00000110333
AA Change: V661E

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105962
Gene: ENSMUSG00000014355
AA Change: V661E

Domain	Start	End	E-Value	Type
Pfam:Apc1	149	227	1.7e-22	PFAM
low complexity region	323	345	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143007

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 69,060,187		silent	Het
Adck1	G	T	12: 88,446,710	V271F	probably damaging	Het
Aggf1	T	C	13: 95,370,929	D116G	probably benign	Het
Apoa5	T	C	9: 46,269,139		probably null	Het
Atp8a2	C	T	14: 60,026,920		probably null	Het
Bnipl	A	T	3: 95,250,266		probably benign	Het
Cbs	T	G	17: 31,615,545	D490A	probably benign	Het
Chrdl1	G	T	X: 143,303,514	H199N	possibly damaging	Het
D3Ertd254e	T	C	3: 36,164,728	F300S	possibly damaging	Het
Dcaf1	C	T	9: 106,863,111	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,008,845		probably benign	Het
Ephb4	A	G	5: 137,370,762	K805E	probably damaging	Het
Ergic3	A	G	2: 156,010,475	N135D	probably benign	Het
Fbxw18	C	T	9: 109,701,322	V74I	probably benign	Het
Fmo4	G	T	1: 162,799,080	T299N	probably benign	Het
Gmeb1	T	C	4: 132,225,836	K540E	probably damaging	Het
H60c	T	A	10: 3,259,826	S154C	possibly damaging	Het
Herc1	T	C	9: 66,480,869	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,431,379	D937G	probably damaging	Het
Ift122	A	G	6: 115,925,437	D1079G	probably benign	Het
Il6st	T	C	13: 112,495,240	W438R	probably benign	Het
Lypla2	C	T	4: 135,969,621	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,385,875	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,812,293	G397D	probably damaging	Het
Muc4	G	A	16: 32,751,313	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,863,250	V3311G	probably benign	Het
Naca	A	G	10: 128,036,489		probably benign	Het
Nrxn1	A	G	17: 91,088,401	V109A	probably benign	Het
Nup210	T	G	6: 91,076,698	D279A	probably benign	Het
Olfr1097	A	G	2: 86,891,116	S20P	possibly damaging	Het
Olfr981	A	T	9: 40,022,770	I126F	probably damaging	Het
Pappa	T	A	4: 65,156,124	V305E	possibly damaging	Het
Pcdh19	A	T	X: 133,588,496	M977K	probably benign	Het
Pdzph1	T	A	17: 58,967,339	I837F	possibly damaging	Het
Phip	A	T	9: 82,871,319	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,816,288	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,448	V1063M	probably damaging	Het
Qprt	A	T	7: 127,108,356	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,700,026	K391E	possibly damaging	Het
Rbbp7	C	A	X: 162,771,056	P162Q	probably benign	Het
Rev3l	A	T	10: 39,825,099	N1864I	probably damaging	Het
Rims1	A	G	1: 22,630,475	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,162,783	K107I	probably benign	Het
Sbf1	C	A	15: 89,302,505	E864*	probably null	Het
Strip2	G	A	6: 29,917,180		probably benign	Het
Stx4a	T	C	7: 127,848,398	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,222,359	V577I	possibly damaging	Het
Tex38	T	C	4: 115,780,394	T71A	possibly damaging	Het
Usp38	T	C	8: 80,985,714	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,738,166	V730E	probably benign	Het
Wwp2	T	A	8: 107,554,057	L644Q	probably damaging	Het
Zpld1	A	G	16: 55,251,611	I95T	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
IGL01432:Anapc1	APN	2	128633408	missense	probably damaging	1.00
IGL01549:Anapc1	APN	2	128653170	missense	probably benign
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
R8553:Anapc1	UTSW	2	128619913	missense	possibly damaging	0.80
X0066:Anapc1	UTSW	2	128674701	missense	probably benign	0.10

Posted On

2015-04-16