Mutagenetix > Incidental Mutations

Incidental Mutation 'R6860:Anapc4'

535424

Institutional Source

Beutler Lab

Gene Symbol

Anapc4

Ensembl Gene

ENSMUSG00000029176

Gene Name

anaphase promoting complex subunit 4

Synonyms

2610306D21Rik, D5Ertd249e, APC4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52834012-52867797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52848828 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 149 (Q149L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031072] [ENSMUST00000144574]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031072
AA Change: Q353L

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: Q353L

Domain	Start	End	E-Value	Type
Pfam:ANAPC4_WD40	10	57	9.1e-18	PFAM
low complexity region	137	147	N/A	INTRINSIC
Pfam:ANAPC4	232	431	3.7e-61	PFAM
low complexity region	747	763	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144574

SMART Domains

Protein: ENSMUSP00000114475
Gene: ENSMUSG00000029176

Domain	Start	End	E-Value	Type
Pfam:Apc4_WD40	10	57	4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150682

Predicted Effect

probably damaging
Transcript: ENSMUST00000198207
AA Change: Q149L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,625,100	L58P	probably damaging	Het
4933427D14Rik	T	C	11: 72,189,586	E418G	probably damaging	Het
9930012K11Rik	C	A	14: 70,157,622	V28L	possibly damaging	Het
Abtb2	C	T	2: 103,709,425	R712*	probably null	Het
Acvr1c	C	T	2: 58,287,705	G171S	probably damaging	Het
Ahctf1	G	T	1: 179,753,288	A1783E	probably benign	Het
Ankrd27	T	C	7: 35,628,527	V824A	possibly damaging	Het
Ankrd31	G	C	13: 96,831,586	C577S	probably benign	Het
Apol7c	T	C	15: 77,526,074	N224S	probably benign	Het
Arl14	A	T	3: 69,222,696	T59S	probably benign	Het
Astn1	T	A	1: 158,612,472	I870K	probably damaging	Het
B4galt1	A	T	4: 40,807,796	V335E	probably benign	Het
C2cd3	C	T	7: 100,390,241	P216S	probably benign	Het
Cchcr1	C	A	17: 35,529,118	N711K	possibly damaging	Het
Chd2	A	G	7: 73,497,810	F467L	possibly damaging	Het
Cntn6	A	T	6: 104,861,946	E987V	possibly damaging	Het
Col11a2	T	A	17: 34,053,598	L286H	probably damaging	Het
Cwc22	C	T	2: 77,929,448	R85Q	possibly damaging	Het
Cyp7a1	A	C	4: 6,272,587	F209V	probably damaging	Het
Dmtn	T	C	14: 70,614,882	T189A	possibly damaging	Het
Dnhd1	C	G	7: 105,678,266	N777K	probably benign	Het
Dusp16	A	T	6: 134,725,879	C216*	probably null	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbn1	T	C	2: 125,328,158	N1993S	probably damaging	Het
Fbxw22	A	G	9: 109,383,962	S306P	probably benign	Het
Ferd3l	T	C	12: 33,928,652	S55P	probably benign	Het
Fpr-rs3	A	G	17: 20,624,298	S194P	possibly damaging	Het
Gm19965	G	A	1: 116,820,879	D97N	probably benign	Het
Gtpbp2	A	G	17: 46,167,988		probably benign	Het
Hcn3	A	C	3: 89,159,845	I72S	possibly damaging	Het
Hist1h3f	G	T	13: 23,544,590	V36L	probably benign	Het
Hk3	T	A	13: 55,014,465	N109Y	probably damaging	Het
Iqub	T	C	6: 24,505,738	E57G	possibly damaging	Het
Kcnk3	T	A	5: 30,622,053	M149K	possibly damaging	Het
Kcp	C	T	6: 29,505,720	G51D	probably benign	Het
Kif26a	C	A	12: 112,146,829	A53D	probably damaging	Het
Lifr	T	A	15: 7,172,937	I353K	probably benign	Het
Llph	A	T	10: 120,231,284	N102I	probably damaging	Het
Lmo3	C	A	6: 138,416,568	R18L	possibly damaging	Het
Lrrc46	T	C	11: 97,035,545	E175G	probably benign	Het
Ltk	A	T	2: 119,754,594	C128*	probably null	Het
Map1b	T	C	13: 99,434,767	E482G	probably damaging	Het
Mapk8ip2	T	C	15: 89,460,452	V740A	probably damaging	Het
Miga2	T	C	2: 30,371,163	W157R	probably benign	Het
Mlip	A	G	9: 77,102,393	*837Q	probably null	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Myl1	T	C	1: 66,945,058		probably benign	Het
Olfr365	T	C	2: 37,202,177	L312P	possibly damaging	Het
Olfr448	T	C	6: 42,896,816	Y122H	probably benign	Het
Olfr613	A	G	7: 103,551,868	I28V	probably benign	Het
P3h3	A	T	6: 124,857,368	V107D	probably benign	Het
Papolb	A	T	5: 142,528,896	S331T	possibly damaging	Het
Pars2	T	G	4: 106,654,503	V494G	probably benign	Het
Pcdhb3	C	A	18: 37,301,710	T243K	probably benign	Het
Pde9a	T	A	17: 31,470,724	M415K	probably damaging	Het
Ppp1r9b	G	A	11: 94,992,148	A201T	probably benign	Het
Prl	A	G	13: 27,064,959	N197S	possibly damaging	Het
Prl2c1	T	A	13: 27,851,741	M32K	probably benign	Het
Prrt4	T	C	6: 29,170,738	S572G	possibly damaging	Het
Psd	T	A	19: 46,322,419	D397V	probably damaging	Het
Psme2b	A	T	11: 48,945,480	Y213*	probably null	Het
Ptcd3	T	A	6: 71,897,110		probably null	Het
Ptprk	T	G	10: 28,334,484	F167L	probably damaging	Het
Rfx7	T	C	9: 72,616,944	V472A	probably damaging	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Sec16a	T	C	2: 26,430,112	Y1438C	probably damaging	Het
Serinc3	C	T	2: 163,634,446	S155N	probably benign	Het
Slc3a2	A	T	19: 8,713,632	V78E	probably damaging	Het
Slc44a4	T	A	17: 34,921,068	L23Q	probably damaging	Het
Slco5a1	C	T	1: 12,881,196		probably benign	Het
Slit1	A	G	19: 41,616,715	M899T	probably benign	Het
Sorl1	A	G	9: 42,022,392	I1094T	probably benign	Het
Spag9	T	A	11: 94,081,370	L258Q	probably benign	Het
Strip1	T	C	3: 107,618,936	E488G	possibly damaging	Het
Stx18	G	A	5: 38,104,891	D30N	possibly damaging	Het
Sync	T	C	4: 129,287,790		probably null	Het
Syncrip	A	G	9: 88,476,796	V220A	probably damaging	Het
Tagln2	T	C	1: 172,505,909	I110T	probably benign	Het
Taok1	T	C	11: 77,541,801	T729A	probably benign	Het
Tgfbrap1	C	T	1: 43,067,599	V75I	possibly damaging	Het
Tnfrsf21	A	G	17: 43,017,066	T24A	probably benign	Het
Tnxb	T	A	17: 34,713,157	D2221E	probably damaging	Het
Triml1	A	G	8: 43,130,566	S333P	probably damaging	Het
Trp53bp1	C	A	2: 121,199,113	R1862L	probably damaging	Het
Tsc22d1	T	G	14: 76,418,292	I737S	possibly damaging	Het
U2af2	A	T	7: 5,079,274	K462N	possibly damaging	Het
Ubap2	A	C	4: 41,233,631	N86K	probably damaging	Het
Uso1	A	G	5: 92,195,348	K764E	probably benign	Het
Vmn1r192	T	A	13: 22,187,952	M33L	probably benign	Het

Other mutations in Anapc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Anapc4	APN	5	52857211	missense	probably damaging	0.98
IGL01066:Anapc4	APN	5	52857209	missense	probably benign	0.08
IGL01109:Anapc4	APN	5	52848628	missense	probably damaging	1.00
IGL01657:Anapc4	APN	5	52864626	nonsense	probably null
IGL02692:Anapc4	APN	5	52864529	missense	probably damaging	0.98
IGL02734:Anapc4	APN	5	52861291	missense	probably benign	0.04
IGL03089:Anapc4	APN	5	52866398	missense	probably benign	0.32
IGL03096:Anapc4	APN	5	52865929	missense	possibly damaging	0.57
FR4304:Anapc4	UTSW	5	52864526	missense	probably damaging	1.00
IGL03048:Anapc4	UTSW	5	52839733	missense	probably benign	0.00
R0331:Anapc4	UTSW	5	52855642	splice site	probably benign
R0511:Anapc4	UTSW	5	52842017	unclassified	probably benign
R0624:Anapc4	UTSW	5	52845419	splice site	probably benign
R0919:Anapc4	UTSW	5	52855637	missense	probably benign	0.18
R1935:Anapc4	UTSW	5	52839668	missense	probably damaging	0.99
R1936:Anapc4	UTSW	5	52839668	missense	probably damaging	0.99
R1942:Anapc4	UTSW	5	52846714	missense	probably benign	0.30
R1953:Anapc4	UTSW	5	52839688	missense	probably damaging	1.00
R1954:Anapc4	UTSW	5	52846625	intron	probably benign
R2341:Anapc4	UTSW	5	52841937	unclassified	probably benign
R3696:Anapc4	UTSW	5	52862009	missense	probably null	0.01
R4506:Anapc4	UTSW	5	52835730	missense	possibly damaging	0.79
R4596:Anapc4	UTSW	5	52841718	missense	probably benign	0.00
R5234:Anapc4	UTSW	5	52848776	missense	probably damaging	1.00
R5256:Anapc4	UTSW	5	52863594	missense	probably benign
R5310:Anapc4	UTSW	5	52859159	missense	probably benign	0.00
R5401:Anapc4	UTSW	5	52863649	missense	probably benign	0.01
R5409:Anapc4	UTSW	5	52848599	missense	probably damaging	0.98
R5525:Anapc4	UTSW	5	52856809	missense	probably damaging	1.00
R5575:Anapc4	UTSW	5	52855871	missense	probably damaging	1.00
R5604:Anapc4	UTSW	5	52841734	nonsense	probably null
R5695:Anapc4	UTSW	5	52862239	missense	probably benign	0.00
R5955:Anapc4	UTSW	5	52865946	missense	probably benign	0.01
R5974:Anapc4	UTSW	5	52845400	missense	probably damaging	1.00
R6458:Anapc4	UTSW	5	52864553	missense	possibly damaging	0.80
R6537:Anapc4	UTSW	5	52843556	missense	probably damaging	0.98
R6633:Anapc4	UTSW	5	52865946	missense	possibly damaging	0.85
R6965:Anapc4	UTSW	5	52835751	missense	possibly damaging	0.89
R7067:Anapc4	UTSW	5	52862235	missense	probably benign
R7327:Anapc4	UTSW	5	52845330	missense	probably damaging	0.99
R7442:Anapc4	UTSW	5	52857201	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTTCAGACTCTCCTGATGAACCAG -3'
(R):5'- TCATTACCGACTTCAATCTTGGG -3'

Sequencing Primer
(F):5'- CTCTCCTGATGAACCAGTTAACAGTG -3'
(R):5'- CGACTTCAATCTTGGGTATGCCAAG -3'

Posted On

2018-09-12