Mutagenetix > Incidental Mutations

Incidental Mutation 'R1942:Anapc4'

216277

Institutional Source

Beutler Lab

Gene Symbol

Anapc4

Ensembl Gene

ENSMUSG00000029176

Gene Name

anaphase promoting complex subunit 4

Synonyms

2610306D21Rik, D5Ertd249e, APC4

MMRRC Submission

039960-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1942 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52834012-52867797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52846714 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 291 (V291A)

Ref Sequence

ENSEMBL: ENSMUSP00000031072 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031072
AA Change: V291A

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: V291A

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

noncoding transcript
Transcript: ENSMUST00000130536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142035

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

unknown
Transcript: ENSMUST00000150682
AA Change: V112A

Predicted Effect

probably benign
Transcript: ENSMUST00000198207

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001L19Rik	A	C	13: 68,612,971	I171L	probably benign	Het
4930407I10Rik	A	T	15: 82,065,424	Y1174F	probably damaging	Het
Ahnak	A	G	19: 9,015,083	E4577G	probably damaging	Het
Apba2	A	G	7: 64,695,470	E136G	possibly damaging	Het
Arhgap20	C	A	9: 51,831,698	Q279K	probably benign	Het
B3galnt1	A	T	3: 69,575,925	M1K	probably null	Het
C4bp	C	A	1: 130,656,067		probably benign	Het
Catsperg1	G	A	7: 29,206,807	T157I	possibly damaging	Het
Chrm1	T	A	19: 8,678,273	M114K	probably damaging	Het
Clasp1	A	G	1: 118,501,348	E329G	possibly damaging	Het
Clrn2	A	C	5: 45,453,995	Y62S	probably benign	Het
Col12a1	T	G	9: 79,635,466	D2339A	probably damaging	Het
Copa	T	A	1: 172,111,888	L564Q	probably damaging	Het
Cpeb2	C	A	5: 43,235,253		probably benign	Het
Dhx57	A	T	17: 80,265,144	M647K	probably damaging	Het
Diaph3	C	T	14: 87,141,120		probably benign	Het
Eomes	A	G	9: 118,484,648	D587G	probably benign	Het
Gm5142	T	A	14: 59,178,707	M1L	probably benign	Het
Gnl2	A	G	4: 125,030,164	I12V	probably benign	Het
Gprin1	C	T	13: 54,739,939	C174Y	probably benign	Het
Grin2b	A	T	6: 135,732,732	V1272E	possibly damaging	Het
Hdac9	A	G	12: 34,429,545	L227S	probably damaging	Het
Helz	T	A	11: 107,602,492	L247Q	probably benign	Het
Hs6st1	T	C	1: 36,068,722	V22A	probably benign	Het
Hspg2	C	A	4: 137,542,552	A2304E	possibly damaging	Het
Htr3a	T	C	9: 48,908,611	Y73C	probably damaging	Het
Il1rap	A	C	16: 26,722,455	E482A	probably damaging	Het
Itsn2	T	A	12: 4,639,670	L581*	probably null	Het
Msmb	A	G	14: 32,148,077	E2G	probably benign	Het
Muc19	T	C	15: 91,892,472		noncoding transcript	Het
Muc4	A	C	16: 32,750,642	L173F	probably damaging	Het
Muc5b	A	T	7: 141,857,684	S1456C	unknown	Het
Mylip	A	T	13: 45,406,696	I203F	probably damaging	Het
Nckap5	A	T	1: 126,024,302	D1504E	probably damaging	Het
Neil1	C	G	9: 57,146,607	R143P	probably benign	Het
Nlrp2	T	A	7: 5,322,448	T742S	probably damaging	Het
Nme8	A	G	13: 19,675,808	V214A	probably damaging	Het
Nsun7	C	T	5: 66,284,245	T419I	probably benign	Het
Nup210l	G	A	3: 90,151,237	E648K	probably benign	Het
Olfr1386	T	C	11: 49,470,154	M1T	probably null	Het
Olfr283	A	G	15: 98,378,564	L182P	probably damaging	Het
Olfr981	T	A	9: 40,022,735	L114H	probably damaging	Het
Olfr981	T	C	9: 40,022,752	Y120H	probably damaging	Het
Parp11	A	C	6: 127,470,700		probably null	Het
Pomgnt1	G	T	4: 116,155,275		probably null	Het
Ppp1r14c	T	C	10: 3,463,417	I150T	probably damaging	Het
Psd4	A	G	2: 24,405,793	E908G	probably damaging	Het
Psmd6	A	T	14: 14,116,442	V91E	probably damaging	Het
Ptk2b	A	T	14: 66,169,381	V634D	probably damaging	Het
Rapgef6	A	G	11: 54,657,263	I753V	possibly damaging	Het
Rbm45	G	A	2: 76,375,479		probably null	Het
Ric1	A	G	19: 29,601,016		probably benign	Het
Sh3rf2	A	G	18: 42,149,624	K416E	probably damaging	Het
Six5	C	T	7: 19,096,933	A495V	possibly damaging	Het
Slc27a6	T	A	18: 58,556,798	M112K	probably damaging	Het
Slc5a4a	T	C	10: 76,147,588	S20P	unknown	Het
Smg1	A	G	7: 118,158,103		probably benign	Het
Sntb2	G	A	8: 107,011,352	A511T	probably damaging	Het
Stk31	A	T	6: 49,439,127	N622I	probably damaging	Het
Sulf1	T	C	1: 12,848,173	F38S	probably damaging	Het
Szt2	G	T	4: 118,392,620	T521K	probably benign	Het
Terf1	G	T	1: 15,805,814	R46I	probably benign	Het
Tmem245	A	G	4: 56,923,511		probably benign	Het
Tmigd1	T	C	11: 76,914,079		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Umod	A	G	7: 119,476,932	Y204H	probably damaging	Het
Vcan	T	A	13: 89,703,424	Q1139L	probably benign	Het
Vmn1r85	T	A	7: 13,084,741	T159S	possibly damaging	Het
Vmn2r103	T	A	17: 19,812,300	S779T	probably benign	Het
Vmn2r27	C	T	6: 124,223,763	A412T	probably damaging	Het
Zc3h12d	A	C	10: 7,853,313	D147A	probably damaging	Het
Zfp800	A	T	6: 28,243,273	D564E	probably benign	Het
Zfp932	A	G	5: 110,006,987	E17G	probably damaging	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
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
R6860:Anapc4	UTSW	5	52848828	missense	probably damaging	1.00
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
R7837:Anapc4	UTSW	5	52859208	critical splice donor site	probably null
R8382:Anapc4	UTSW	5	52858935	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTTATTGAGTTAGAAGAGTAGTTG -3'
(R):5'- AAACTAAGGTTGTACTGAACCATCT -3'

Sequencing Primer
(F):5'- GAGTAGTTGGAAGTAAATTCTGCC -3'
(R):5'- ATGAATTACTCAGGCAGCTCTCTGG -3'

Posted On

2014-08-01