Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Anapc4'

577007

Institutional Source

Beutler Lab

Gene Symbol

Anapc4

Ensembl Gene

ENSMUSG00000029176

Gene Name

anaphase promoting complex subunit 4

Synonyms

D5Ertd249e, 2610306D21Rik, APC4

MMRRC Submission

045518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52991477-53024076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53014543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 469 (Y469H)

Ref Sequence

ENSEMBL: ENSMUSP00000031072 (fasta)

Gene Model

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

AlphaFold

Q91W96

Predicted Effect

probably benign
Transcript: ENSMUST00000031072
AA Change: Y469H

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: Y469H

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

Meta Mutation Damage Score

0.1049

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,919 (GRCm39)	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,645,509 (GRCm39)	S465P	possibly damaging	Het
Acap3	T	C	4: 155,990,078 (GRCm39)	F753L	probably damaging	Het
Adam9	A	T	8: 25,457,223 (GRCm39)	V635E	probably damaging	Het
Adgre4	T	A	17: 56,159,340 (GRCm39)	V675E	probably benign	Het
Ankdd1b	T	G	13: 96,561,268 (GRCm39)	K325N	possibly damaging	Het
Aox1	T	C	1: 58,121,172 (GRCm39)	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,563,739 (GRCm39)	T237A	probably benign	Het
Asah1	T	C	8: 41,796,602 (GRCm39)	D331G	possibly damaging	Het
Atp5f1a	G	A	18: 77,866,820 (GRCm39)	R231H	probably benign	Het
Bod1l	G	A	5: 41,964,522 (GRCm39)	P2694L	probably damaging	Het
Bst1	T	C	5: 43,979,084 (GRCm39)	S143P	probably benign	Het
Cacna1b	A	C	2: 24,497,513 (GRCm39)	S2132A	probably benign	Het
Caps2	G	T	10: 112,044,259 (GRCm39)	R486L	probably damaging	Het
Ccdc168	A	G	1: 44,097,868 (GRCm39)	S1077P	possibly damaging	Het
Cd68	T	C	11: 69,556,754 (GRCm39)	T18A	probably benign	Het
Cdk8	T	C	5: 146,229,579 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,932,072 (GRCm39)	I127N	unknown	Het
Dsc3	T	C	18: 20,114,213 (GRCm39)	D347G	probably damaging	Het
Dyrk2	T	C	10: 118,695,786 (GRCm39)	S491G	probably damaging	Het
Edem1	T	A	6: 108,828,266 (GRCm39)	Y530*	probably null	Het
Enc1	A	T	13: 97,383,248 (GRCm39)	H586L	probably benign	Het
Ephb6	T	G	6: 41,594,981 (GRCm39)		probably null	Het
Etv5	G	T	16: 22,254,809 (GRCm39)	Q48K	probably damaging	Het
Exoc3l	A	G	8: 106,019,558 (GRCm39)	W404R	probably damaging	Het
Fbn1	C	A	2: 125,245,132 (GRCm39)	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,782,490 (GRCm39)	S241P	unknown	Het
Gm49380	T	A	9: 44,023,709 (GRCm39)	M180L	probably benign	Het
Hoxd1	A	T	2: 74,593,903 (GRCm39)	D153V	probably damaging	Het
Ifi207	C	T	1: 173,554,997 (GRCm39)	S895N	probably benign	Het
Igf1r	G	A	7: 67,823,026 (GRCm39)	V385M	probably damaging	Het
Ints9	C	T	14: 65,232,513 (GRCm39)	Q191*	probably null	Het
Ktn1	A	G	14: 47,952,097 (GRCm39)	E979G	probably benign	Het
Lama3	G	A	18: 12,605,238 (GRCm39)		probably null	Het
Lrtm2	C	T	6: 119,294,392 (GRCm39)	M246I	probably damaging	Het
Mdm1	T	C	10: 117,982,590 (GRCm39)	V75A	probably benign	Het
Mia3	T	C	1: 183,140,220 (GRCm39)	E165G	probably benign	Het
Mrps21	T	C	3: 95,770,128 (GRCm39)	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,362,155 (GRCm39)	I995S	probably damaging	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Myo16	G	A	8: 10,322,537 (GRCm39)	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,816,798 (GRCm39)	D134A	probably benign	Het
Obox1	G	T	7: 15,289,491 (GRCm39)	K93N	probably benign	Het
Or12d2	T	A	17: 37,624,816 (GRCm39)	H153L	possibly damaging	Het
Or2r3	A	T	6: 42,448,434 (GRCm39)	M226K	probably benign	Het
Or56a4	T	C	7: 104,806,289 (GRCm39)	Y200C	probably damaging	Het
Or5ar1	A	T	2: 85,672,096 (GRCm39)	V13D	probably benign	Het
Pkd2l1	T	C	19: 44,145,668 (GRCm39)	H185R	probably benign	Het
Ptpn18	A	G	1: 34,501,831 (GRCm39)	T48A	probably benign	Het
Ptprd	A	T	4: 75,978,058 (GRCm39)	Y583*	probably null	Het
Ptprk	G	A	10: 28,450,815 (GRCm39)	G992D	probably damaging	Het
Setdb2	A	G	14: 59,656,700 (GRCm39)	F206L	probably damaging	Het
Slain1	A	G	14: 103,923,150 (GRCm39)	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,139,086 (GRCm39)	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,256,819 (GRCm39)	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,115,919 (GRCm39)	V685A	probably benign	Het
Srp54c	T	A	12: 55,302,347 (GRCm39)	Y333N	probably damaging	Het
Srrm2	T	C	17: 24,039,091 (GRCm39)	S1912P	unknown	Het
St7l	A	G	3: 104,796,645 (GRCm39)	T253A	possibly damaging	Het
Styxl2	T	C	1: 165,928,584 (GRCm39)	K343E	probably benign	Het
Sun3	T	G	11: 8,981,445 (GRCm39)	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,965,561 (GRCm39)	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,370,781 (GRCm39)	S648R	probably damaging	Het
Tmem178	T	A	17: 81,252,185 (GRCm39)	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,689 (GRCm39)	G22W	probably damaging	Het
Top3a	C	T	11: 60,644,744 (GRCm39)	S320N	possibly damaging	Het
Treml1	C	A	17: 48,673,719 (GRCm39)	D243E	probably damaging	Het
Trim42	C	T	9: 97,244,998 (GRCm39)	V601M	probably damaging	Het
Ttn	A	G	2: 76,573,350 (GRCm39)	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 12,835,983 (GRCm39)	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,793,662 (GRCm39)	F2S	probably benign	Het
Xpc	A	G	6: 91,481,631 (GRCm39)	L230P	probably damaging	Het
Xpo4	A	G	14: 57,867,680 (GRCm39)	V189A	probably benign	Het
Zfhx3	A	G	8: 109,519,468 (GRCm39)	T197A	probably damaging	Het
Zswim1	A	G	2: 164,667,710 (GRCm39)	K321E	probably damaging	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
R0331:Anapc4	UTSW	5	53,012,984 (GRCm39)	splice site	probably benign
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
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'- ACTTCCTTAGAAAACTCGTCTGC -3'
(R):5'- ACACTTGACTTAAAGAGTTTGGGG -3'

Sequencing Primer
(F):5'- AAAACTCGTCTGCTTCTCTTTGTGAG -3'
(R):5'- GGTCATCTTACTAAAAAGGCAGAC -3'

Posted On

2019-10-07