Mutagenetix > Incidental Mutation

Incidental Mutation 'R8061:Anapc1'

619687

Institutional Source

Beutler Lab

Gene Symbol

Anapc1

Ensembl Gene

ENSMUSG00000014355

Gene Name

anaphase promoting complex subunit 1

Synonyms

Apc1, tsg24, Mcpr, 2610021O03Rik

MMRRC Submission

067497-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128452024-128529311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128490408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1008 (E1008G)

Ref Sequence

ENSEMBL: ENSMUSP00000014499 (fasta)

Gene Model

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

AlphaFold

P53995

Predicted Effect

probably damaging
Transcript: ENSMUST00000014499
AA Change: E1008G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: E1008G

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

probably benign
Transcript: ENSMUST00000110333
AA Change: E1008G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105962
Gene: ENSMUSG00000014355
AA Change: E1008G

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

Meta Mutation Damage Score

0.1271

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	G	A	5: 115,255,710 (GRCm39)	R42C	probably benign	Het
Agrn	G	A	4: 156,263,411 (GRCm39)	R338C	probably damaging	Het
Art5	A	T	7: 101,747,456 (GRCm39)	Y108N	possibly damaging	Het
As3mt	G	A	19: 46,728,982 (GRCm39)	C369Y	probably damaging	Het
Asb3	A	G	11: 30,948,447 (GRCm39)	N41S	probably damaging	Het
Astn1	G	A	1: 158,331,920 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,300 (GRCm39)	M1770K	possibly damaging	Het
Atp8b2	T	C	3: 89,853,527 (GRCm39)		probably benign	Het
Cfap300	A	G	9: 8,042,672 (GRCm39)	W37R	probably damaging	Het
Chrm1	T	C	19: 8,656,518 (GRCm39)	Y408H	possibly damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cnot1	A	G	8: 96,491,655 (GRCm39)	F390L	possibly damaging	Het
Comt	T	C	16: 18,230,040 (GRCm39)	Y100C	probably benign	Het
Cyria	G	T	12: 12,412,028 (GRCm39)	A150S	possibly damaging	Het
Dclk2	T	C	3: 86,720,981 (GRCm39)		probably benign	Het
Dicer1	G	A	12: 104,669,077 (GRCm39)	Q1202*	probably null	Het
Disp1	C	T	1: 182,869,151 (GRCm39)	V1090M	probably damaging	Het
Dnajc28	T	C	16: 91,414,058 (GRCm39)	D62G	possibly damaging	Het
Dock1	C	T	7: 134,374,052 (GRCm39)	T566I	probably benign	Het
Dop1a	T	G	9: 86,403,246 (GRCm39)	M18R	possibly damaging	Het
Dop1b	T	C	16: 93,546,884 (GRCm39)	L296P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	A	T	11: 104,997,275 (GRCm39)	D155V	probably benign	Het
Ehmt2	T	C	17: 35,124,903 (GRCm39)	S465P	possibly damaging	Het
Eno1b	G	A	18: 48,180,725 (GRCm39)	W301*	probably null	Het
Fpgt	A	G	3: 154,792,903 (GRCm39)	S375P	probably benign	Het
Gas2l1	G	A	11: 5,011,785 (GRCm39)	S348F	possibly damaging	Het
Gen1	A	T	12: 11,311,077 (GRCm39)		probably benign	Het
Ice1	A	T	13: 70,751,851 (GRCm39)	C1412S	probably damaging	Het
Iqcn	A	G	8: 71,161,224 (GRCm39)	E139G	probably benign	Het
Klhl2	A	C	8: 65,211,257 (GRCm39)	L264V	probably damaging	Het
Lars2	A	G	9: 123,288,562 (GRCm39)	T803A	probably benign	Het
Ldb2	T	A	5: 44,637,612 (GRCm39)	K232M	probably damaging	Het
Lix1	G	A	17: 17,663,938 (GRCm39)	R92Q	probably damaging	Het
Meig1	C	T	2: 3,410,240 (GRCm39)	V87I	not run	Het
Mitf	A	C	6: 97,970,259 (GRCm39)	S176R	probably damaging	Het
Myh7	A	G	14: 55,228,398 (GRCm39)	V236A	probably benign	Het
Myo5a	T	A	9: 75,030,239 (GRCm39)	Y119*	probably null	Het
Ncapg2	A	G	12: 116,390,197 (GRCm39)	N382S	probably benign	Het
Neu2	C	T	1: 87,524,633 (GRCm39)	P206L	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,792 (GRCm39)	F147S	probably damaging	Het
Osbpl5	C	T	7: 143,256,461 (GRCm39)	R454Q	probably benign	Het
Panx1	A	G	9: 14,956,297 (GRCm39)	S13P	possibly damaging	Het
Pde2a	A	G	7: 101,153,179 (GRCm39)	D413G	probably benign	Het
Plcb1	A	T	2: 135,188,316 (GRCm39)	Y803F	probably benign	Het
Prrc2a	T	C	17: 35,380,162 (GRCm39)		probably benign	Het
Pth2r	T	A	1: 65,382,660 (GRCm39)	Y143N	possibly damaging	Het
Ptpn4	C	T	1: 119,619,330 (GRCm39)		probably null	Het
Rapgef3	T	C	15: 97,659,401 (GRCm39)	Y112C	probably benign	Het
Rusc2	A	G	4: 43,422,492 (GRCm39)	N907S	probably damaging	Het
Scn7a	T	A	2: 66,522,938 (GRCm39)	N922I	probably damaging	Het
Shprh	T	C	10: 11,088,077 (GRCm39)	V1620A	possibly damaging	Het
Slc25a54	T	A	3: 109,018,361 (GRCm39)	S280R	probably damaging	Het
Slc30a5	T	C	13: 100,965,419 (GRCm39)	I63M	probably damaging	Het
Smg1	A	T	7: 117,751,610 (GRCm39)	V2817E	unknown	Het
Sprr3	T	C	3: 92,364,184 (GRCm39)	E220G	probably damaging	Het
Tcf21	T	C	10: 22,695,762 (GRCm39)	E14G	probably benign	Het
Tenm4	A	G	7: 96,501,663 (GRCm39)	D1289G	probably damaging	Het
Tmem121b	C	A	6: 120,469,064 (GRCm39)	G551V	probably damaging	Het
Tpk1	A	G	6: 43,323,778 (GRCm39)	S224P	probably damaging	Het
Trib1	T	C	15: 59,523,404 (GRCm39)	I146T	probably damaging	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het
Vcan	T	A	13: 89,805,409 (GRCm39)	I3336L	probably benign	Het
Vmn1r200	C	A	13: 22,579,453 (GRCm39)	Y85*	probably null	Het
Vps39	T	C	2: 120,174,692 (GRCm39)	I97V	probably benign	Het
Zan	T	A	5: 137,434,893 (GRCm39)	I2167F	unknown	Het
Zfp37	A	T	4: 62,109,665 (GRCm39)	Y507*	probably null	Het
Zfp39	A	G	11: 58,793,573 (GRCm39)	V55A	probably benign	Het
Zfp616	A	T	11: 73,974,340 (GRCm39)	N294I	possibly damaging	Het
Zfp729a	T	C	13: 67,768,208 (GRCm39)	T674A	probably benign	Het

Other mutations in Anapc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCTCAAGTGTAACAGATTGGACAG -3'
(R):5'- GCTCAGCTTGTATGACAGCATTG -3'

Sequencing Primer
(F):5'- GGACAGGAGATGAACTATTTTACCTG -3'
(R):5'- CAGCTTGTATGACAGCATTGTTTGAC -3'

Posted On

2020-01-23