Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Anapc4'

26041

Institutional Source

Beutler Lab

Gene Symbol

Anapc4

Ensembl Gene

ENSMUSG00000029176

Gene Name

anaphase promoting complex subunit 4

Synonyms

D5Ertd249e, 2610306D21Rik, APC4

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52991477-53024076 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 53012984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114475 (fasta)

Gene Model

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

AlphaFold

Q91W96

Predicted Effect

probably benign
Transcript: ENSMUST00000031072

SMART Domains

Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176

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: 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

noncoding transcript
Transcript: ENSMUST00000154980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199850

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	probably benign	Het

Other mutations in Anapc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Anapc4	APN	5	53,014,553 (GRCm39)	missense	probably damaging	0.98
IGL01066:Anapc4	APN	5	53,014,551 (GRCm39)	missense	probably benign	0.08
IGL01109:Anapc4	APN	5	53,005,970 (GRCm39)	missense	probably damaging	1.00
IGL01657:Anapc4	APN	5	53,021,968 (GRCm39)	nonsense	probably null
IGL02692:Anapc4	APN	5	53,021,871 (GRCm39)	missense	probably damaging	0.98
IGL02734:Anapc4	APN	5	53,018,633 (GRCm39)	missense	probably benign	0.04
IGL03089:Anapc4	APN	5	53,023,740 (GRCm39)	missense	probably benign	0.32
IGL03096:Anapc4	APN	5	53,023,271 (GRCm39)	missense	possibly damaging	0.57
FR4304:Anapc4	UTSW	5	53,021,868 (GRCm39)	missense	probably damaging	1.00
IGL03048:Anapc4	UTSW	5	52,997,075 (GRCm39)	missense	probably benign	0.00
R0511:Anapc4	UTSW	5	52,999,359 (GRCm39)	unclassified	probably benign
R0624:Anapc4	UTSW	5	53,002,761 (GRCm39)	splice site	probably benign
R0919:Anapc4	UTSW	5	53,012,979 (GRCm39)	missense	probably benign	0.18
R1935:Anapc4	UTSW	5	52,997,010 (GRCm39)	missense	probably damaging	0.99
R1936:Anapc4	UTSW	5	52,997,010 (GRCm39)	missense	probably damaging	0.99
R1942:Anapc4	UTSW	5	53,004,056 (GRCm39)	missense	probably benign	0.30
R1953:Anapc4	UTSW	5	52,997,030 (GRCm39)	missense	probably damaging	1.00
R1954:Anapc4	UTSW	5	53,003,967 (GRCm39)	intron	probably benign
R2341:Anapc4	UTSW	5	52,999,279 (GRCm39)	unclassified	probably benign
R3696:Anapc4	UTSW	5	53,019,351 (GRCm39)	missense	probably null	0.01
R4506:Anapc4	UTSW	5	52,993,072 (GRCm39)	missense	possibly damaging	0.79
R4596:Anapc4	UTSW	5	52,999,060 (GRCm39)	missense	probably benign	0.00
R5234:Anapc4	UTSW	5	53,006,118 (GRCm39)	missense	probably damaging	1.00
R5256:Anapc4	UTSW	5	53,020,936 (GRCm39)	missense	probably benign
R5310:Anapc4	UTSW	5	53,016,501 (GRCm39)	missense	probably benign	0.00
R5401:Anapc4	UTSW	5	53,020,991 (GRCm39)	missense	probably benign	0.01
R5409:Anapc4	UTSW	5	53,005,941 (GRCm39)	missense	probably damaging	0.98
R5525:Anapc4	UTSW	5	53,014,151 (GRCm39)	missense	probably damaging	1.00
R5575:Anapc4	UTSW	5	53,013,213 (GRCm39)	missense	probably damaging	1.00
R5604:Anapc4	UTSW	5	52,999,076 (GRCm39)	nonsense	probably null
R5695:Anapc4	UTSW	5	53,019,581 (GRCm39)	missense	probably benign	0.00
R5955:Anapc4	UTSW	5	53,023,288 (GRCm39)	missense	probably benign	0.01
R5974:Anapc4	UTSW	5	53,002,742 (GRCm39)	missense	probably damaging	1.00
R6458:Anapc4	UTSW	5	53,021,895 (GRCm39)	missense	possibly damaging	0.80
R6537:Anapc4	UTSW	5	53,000,898 (GRCm39)	missense	probably damaging	0.98
R6633:Anapc4	UTSW	5	53,023,288 (GRCm39)	missense	possibly damaging	0.85
R6860:Anapc4	UTSW	5	53,006,170 (GRCm39)	missense	probably damaging	1.00
R6965:Anapc4	UTSW	5	52,993,093 (GRCm39)	missense	possibly damaging	0.89
R7067:Anapc4	UTSW	5	53,019,577 (GRCm39)	missense	probably benign
R7327:Anapc4	UTSW	5	53,002,672 (GRCm39)	missense	probably damaging	0.99
R7442:Anapc4	UTSW	5	53,014,543 (GRCm39)	missense	probably benign	0.08
R7837:Anapc4	UTSW	5	53,016,550 (GRCm39)	critical splice donor site	probably null
R8382:Anapc4	UTSW	5	53,016,277 (GRCm39)	splice site	probably null
R8840:Anapc4	UTSW	5	53,016,473 (GRCm39)	missense	probably damaging	0.98
R8914:Anapc4	UTSW	5	53,000,843 (GRCm39)	nonsense	probably null
R8972:Anapc4	UTSW	5	53,007,884 (GRCm39)	missense	possibly damaging	0.88
R9037:Anapc4	UTSW	5	53,021,843 (GRCm39)	missense	probably benign	0.16
R9211:Anapc4	UTSW	5	53,007,994 (GRCm39)	missense	possibly damaging	0.74
R9269:Anapc4	UTSW	5	53,018,620 (GRCm39)	missense	possibly damaging	0.92
R9294:Anapc4	UTSW	5	53,021,867 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CCAGGTGTTTAAGAGTCATCCAGACAG -3'
(R):5'- CATTCTCAGCATTGCTGGAAAGGAAAG -3'

Sequencing Primer
(F):5'- CTGCACATGATGATCTCTCTCGT -3'
(R):5'- GAAAGTTATCTGTAAAGGTCACCAG -3'

Posted On

2013-04-16