Mutagenetix > Incidental Mutation

Incidental Mutation 'R9211:Anapc4'

698853

Institutional Source

Beutler Lab

Gene Symbol

Anapc4

Ensembl Gene

ENSMUSG00000029176

Gene Name

anaphase promoting complex subunit 4

Synonyms

D5Ertd249e, 2610306D21Rik, APC4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52991477-53024076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53007994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 391 (T391I)

Ref Sequence

ENSEMBL: ENSMUSP00000031072 (fasta)

Gene Model

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

AlphaFold

Q91W96

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031072
AA Change: T391I

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: T391I

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 benign
Transcript: ENSMUST00000198207

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,099,161 (GRCm39)	D85Y	possibly damaging	Het
Accs	T	C	2: 93,668,614 (GRCm39)	R315G	probably damaging	Het
Adam3	A	C	8: 25,177,910 (GRCm39)	W668G	probably benign	Het
Adgrb2	T	A	4: 129,886,199 (GRCm39)	V113E	probably benign	Het
Angpt2	C	T	8: 18,748,078 (GRCm39)	G394D	probably benign	Het
Ankrd31	C	G	13: 97,029,551 (GRCm39)	L1662V	possibly damaging	Het
Ankrd36	A	G	11: 5,612,370 (GRCm39)	D1234G	possibly damaging	Het
Ankrd6	C	T	4: 32,806,580 (GRCm39)	V558M	probably damaging	Het
Ankrd61	T	A	5: 143,828,358 (GRCm39)	M206L	probably benign	Het
Arhgap33	C	T	7: 30,223,023 (GRCm39)	G970R	possibly damaging	Het
Atf7	A	G	15: 102,437,117 (GRCm39)	V115A	unknown	Het
Atp2c2	A	T	8: 120,446,032 (GRCm39)	R65S	probably benign	Het
Atp8b5	T	A	4: 43,367,960 (GRCm39)	M861K	probably damaging	Het
Bmi1	T	C	2: 18,689,152 (GRCm39)	S279P	probably benign	Het
Bptf	T	G	11: 106,946,124 (GRCm39)	S2372R	probably damaging	Het
Cacnb2	A	T	2: 14,879,308 (GRCm39)	I15L	unknown	Het
Card11	A	G	5: 140,869,375 (GRCm39)	M807T	probably benign	Het
Ccdc175	A	T	12: 72,153,458 (GRCm39)	D704E	probably damaging	Het
Cd300ld	T	A	11: 114,878,386 (GRCm39)	Y42F	probably damaging	Het
Cdh1	A	T	8: 107,390,962 (GRCm39)	T693S	probably benign	Het
Clca4b	T	C	3: 144,638,214 (GRCm39)	Y16C	possibly damaging	Het
Col4a4	A	G	1: 82,506,501 (GRCm39)	I273T	unknown	Het
Coro2b	C	A	9: 62,427,662 (GRCm39)	V9L	probably benign	Het
Crnkl1	T	C	2: 145,774,773 (GRCm39)	D55G	probably damaging	Het
Dcps	T	A	9: 35,035,872 (GRCm39)	N338I	probably damaging	Het
Dusp2	A	T	2: 127,179,311 (GRCm39)	H222L	probably benign	Het
Dync1li1	C	A	9: 114,518,012 (GRCm39)	Y21*	probably null	Het
Efhb	T	G	17: 53,756,507 (GRCm39)	Q381H	probably damaging	Het
Elac2	A	T	11: 64,869,864 (GRCm39)		probably benign	Het
Etaa1	A	G	11: 17,896,053 (GRCm39)	V688A	possibly damaging	Het
Fam120c	C	T	X: 150,127,495 (GRCm39)	H84Y	probably benign	Het
Fbxl7	T	A	15: 26,789,616 (GRCm39)	N37I	probably damaging	Het
Fndc3b	A	T	3: 27,523,086 (GRCm39)	W498R	probably damaging	Het
Galc	G	A	12: 98,173,699 (GRCm39)	A621V	probably benign	Het
Gch1	A	T	14: 47,426,519 (GRCm39)	I69N	probably damaging	Het
Gdpd4	T	C	7: 97,615,466 (GRCm39)	V97A	possibly damaging	Het
Hirip3	C	T	7: 126,463,567 (GRCm39)	R485*	probably null	Het
Hmgcs2	C	T	3: 98,204,748 (GRCm39)	T302I	possibly damaging	Het
Ing5	A	T	1: 93,740,409 (GRCm39)	K137I	possibly damaging	Het
Kcnh8	T	A	17: 53,146,236 (GRCm39)	Y375N	probably damaging	Het
Kdm3a	C	A	6: 71,573,674 (GRCm39)	W963L	probably benign	Het
Klra17	T	G	6: 129,842,651 (GRCm39)	I216L	possibly damaging	Het
Kmt2e	A	G	5: 23,669,770 (GRCm39)	K86E	possibly damaging	Het
Krt42	T	C	11: 100,155,867 (GRCm39)	N293S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,216 (GRCm39)	W209R	probably damaging	Het
Mettl23	C	T	11: 116,734,469 (GRCm39)	P13S	unknown	Het
Ncln	T	C	10: 81,323,527 (GRCm39)	Y540C	probably damaging	Het
Neb	C	G	2: 52,135,360 (GRCm39)	G3250A	probably damaging	Het
Nebl	A	G	2: 17,393,501 (GRCm39)		probably null	Het
Nqo2	A	T	13: 34,156,399 (GRCm39)	T38S	probably benign	Het
Obscn	A	T	11: 59,026,693 (GRCm39)	I170N	probably benign	Het
Or2bd2	G	T	7: 6,443,417 (GRCm39)	G173W	probably damaging	Het
Or4c100	A	G	2: 88,356,170 (GRCm39)	D81G	probably benign	Het
Or5af2	A	T	11: 58,708,709 (GRCm39)	N292Y	probably damaging	Het
Or5p6	C	T	7: 107,630,798 (GRCm39)	V251I	probably damaging	Het
Or7g28	T	A	9: 19,271,824 (GRCm39)	I276F	possibly damaging	Het
Or8k38	A	T	2: 86,488,024 (GRCm39)	Y259*	probably null	Het
Pacs1	A	T	19: 5,189,057 (GRCm39)	V775E	probably damaging	Het
Pheta2	A	T	15: 82,225,227 (GRCm39)		probably benign	Het
Pmfbp1	T	C	8: 110,262,445 (GRCm39)	I713T	probably benign	Het
Pnma8b	A	G	7: 16,679,589 (GRCm39)	D191G	unknown	Het
Polr1a	T	C	6: 71,943,521 (GRCm39)	I1252T	probably damaging	Het
Prss16	A	T	13: 22,192,754 (GRCm39)	M110K	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Rab5b	C	A	10: 128,519,063 (GRCm39)		probably null	Het
Reln	G	T	5: 22,549,200 (GRCm39)	Y69*	probably null	Het
Rgs12	T	A	5: 35,123,165 (GRCm39)	M316K	probably damaging	Het
Rmi2	T	C	16: 10,657,743 (GRCm39)	C118R	possibly damaging	Het
Rnf223	T	A	4: 156,216,834 (GRCm39)	C70S	probably damaging	Het
Rxrb	T	A	17: 34,255,626 (GRCm39)	F371Y	probably damaging	Het
Smurf2	T	A	11: 106,759,463 (GRCm39)	S78C	probably damaging	Het
Sorbs1	A	T	19: 40,332,798 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,032,614 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,871,319 (GRCm39)	H217R	probably benign	Het
Tiam2	T	G	17: 3,498,729 (GRCm39)	V835G	possibly damaging	Het
Tm2d2	C	T	8: 25,510,548 (GRCm39)	R136*	probably null	Het
Tnks	C	T	8: 35,316,489 (GRCm39)	D877N	probably damaging	Het
Tns1	A	G	1: 73,956,948 (GRCm39)	L491P	possibly damaging	Het
Trps1	A	G	15: 50,694,840 (GRCm39)	I485T	probably damaging	Het
Tubgcp5	A	G	7: 55,456,331 (GRCm39)	S308G	probably benign	Het
Ugt8a	T	C	3: 125,661,130 (GRCm39)	H454R	probably damaging	Het
Usp32	G	T	11: 84,913,559 (GRCm39)	T924K	probably damaging	Het
Vmn2r91	A	T	17: 18,356,819 (GRCm39)	K829*	probably null	Het
Zfc3h1	T	C	10: 115,248,328 (GRCm39)	F1146L	possibly damaging	Het
Zfp729a	G	T	13: 67,767,820 (GRCm39)	A803E	probably benign	Het
Zfp990	A	G	4: 145,264,171 (GRCm39)	T390A	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
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
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'- GCTAGTGGCTCTGAGTCTTTAC -3'
(R):5'- CAAGGCCAACAGTGTTCAGG -3'

Sequencing Primer
(F):5'- AGTGGCTCTGAGTCTTTACTGTATC -3'
(R):5'- GCCAACAGTGTTCAGGAAAATC -3'

Posted On

2022-02-07