Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Anapc4'

702740

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 #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52991477-53024076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53018620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 521 (S521T)

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: S521T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: S521T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,637,865 (GRCm39)	S845P	probably benign	Het
Actn1	T	A	12: 80,219,745 (GRCm39)	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,216,006 (GRCm39)	Y64C	probably damaging	Het
Ap3b1	C	A	13: 94,540,570 (GRCm39)	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,247,920 (GRCm39)	N335D	probably damaging	Het
Arrdc2	G	A	8: 71,288,973 (GRCm39)	A354V	probably benign	Het
Atg2b	A	G	12: 105,618,359 (GRCm39)	S898P	probably damaging	Het
Atxn1	T	A	13: 45,710,680 (GRCm39)	T751S	probably benign	Het
Begain	T	A	12: 108,999,119 (GRCm39)	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,594,521 (GRCm39)	D15E	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Card11	A	T	5: 140,892,516 (GRCm39)	M183K	probably damaging	Het
Cldn3	T	C	5: 135,015,579 (GRCm39)	L94P	probably damaging	Het
Clvs2	A	T	10: 33,419,422 (GRCm39)	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cop1	C	T	1: 159,116,553 (GRCm39)	P409L	probably benign	Het
Cplane1	A	C	15: 8,248,500 (GRCm39)	Q1683P	probably damaging	Het
Crhbp	C	A	13: 95,573,024 (GRCm39)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,557,179 (GRCm39)	S794*	probably null	Het
Dlg5	T	A	14: 24,242,881 (GRCm39)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,450,159 (GRCm39)	I199N	probably benign	Het
Dock3	T	C	9: 106,818,522 (GRCm39)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Eif4a3l2	C	T	6: 116,529,317 (GRCm39)	T398I	probably damaging	Het
Fcgr1	C	T	3: 96,193,154 (GRCm39)	R281H	probably benign	Het
Fndc10	T	C	4: 155,779,205 (GRCm39)	V83A	possibly damaging	Het
Galnt2	T	A	8: 125,065,202 (GRCm39)	I444K	probably benign	Het
Gcnt3	T	C	9: 69,941,290 (GRCm39)	Y426C	probably damaging	Het
Gtpbp1	C	T	15: 79,601,855 (GRCm39)	R533C	probably damaging	Het
Hid1	T	C	11: 115,252,502 (GRCm39)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,884,161 (GRCm39)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ilrun	A	C	17: 28,005,049 (GRCm39)	Y169*	probably null	Het
Klf10	A	G	15: 38,298,002 (GRCm39)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,813,017 (GRCm39)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,818,908 (GRCm39)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,658,194 (GRCm39)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 146,926,184 (GRCm39)	H226R	possibly damaging	Het
Or2d2	T	C	7: 106,727,833 (GRCm39)	I256V	probably benign	Het
Or4a68	T	A	2: 89,270,276 (GRCm39)	M116L	probably damaging	Het
Or4k37	T	C	2: 111,159,297 (GRCm39)	F178L	probably damaging	Het
Or4p18	G	A	2: 88,232,586 (GRCm39)	R231C	probably benign	Het
Or5b101	T	C	19: 13,004,994 (GRCm39)	H233R	probably benign	Het
Or5b114-ps1	A	T	19: 13,353,004 (GRCm39)	N226I	unknown	Het
Or5p52	T	A	7: 107,502,527 (GRCm39)	I201N	possibly damaging	Het
Or7e175	T	C	9: 20,048,757 (GRCm39)	M115T	probably damaging	Het
Or8k1	T	C	2: 86,047,247 (GRCm39)	H269R	probably damaging	Het
Orai3	G	T	7: 127,373,194 (GRCm39)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,162,727 (GRCm39)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,001,975 (GRCm39)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,256,064 (GRCm39)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,891,797 (GRCm39)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,306,541 (GRCm39)	R1430G	probably null	Het
Plxna4	T	C	6: 32,155,315 (GRCm39)	H1543R	probably benign	Het
Prcc	A	T	3: 87,777,038 (GRCm39)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,787,388 (GRCm39)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,460,572 (GRCm39)	T840A	probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Rmi1	C	T	13: 58,556,840 (GRCm39)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,404,895 (GRCm39)	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,785,394 (GRCm39)	V435E	probably benign	Het
Rwdd1	T	C	10: 33,888,095 (GRCm39)	T38A	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,311,628 (GRCm39)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 111,538,658 (GRCm39)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,942,534 (GRCm39)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,068,354 (GRCm39)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,766,981 (GRCm39)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,266,223 (GRCm39)	V889A	possibly damaging	Het
Spast	C	A	17: 74,646,069 (GRCm39)	S13*	probably null	Het
Srek1	T	C	13: 103,889,654 (GRCm39)		probably null	Het
Sugp1	G	T	8: 70,509,220 (GRCm39)	E164D	probably benign	Het
Synpo2	T	C	3: 122,910,973 (GRCm39)	D224G	probably benign	Het
Tanc1	A	G	2: 59,630,432 (GRCm39)	D804G	probably damaging	Het
Tep1	C	T	14: 51,081,766 (GRCm39)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,341 (GRCm39)	C325S	probably benign	Het
Themis	T	C	10: 28,739,390 (GRCm39)	V620A	probably benign	Het
Trim17	T	C	11: 58,862,257 (GRCm39)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,445,693 (GRCm39)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm39)	S928P	unknown	Het
Vat1l	C	T	8: 115,016,172 (GRCm39)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,306,263 (GRCm39)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,820,213 (GRCm39)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,400,411 (GRCm39)	I213V	probably benign	Het
Wdr89	T	A	12: 75,679,564 (GRCm39)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,023,283 (GRCm39)	T334A	probably benign	Het
Zfp442	T	A	2: 150,251,287 (GRCm39)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,323,076 (GRCm39)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,246,373 (GRCm39)	E233G	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
R9211:Anapc4	UTSW	5	53,007,994 (GRCm39)	missense	possibly damaging	0.74
R9294:Anapc4	UTSW	5	53,021,867 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- ATAGGATGCAGATGCTGTGGTC -3'
(R):5'- GACGTCAACACTTTCACTAGCC -3'

Sequencing Primer
(F):5'- CAGATGCTGTGGTCATTCTGAATG -3'
(R):5'- TGTGTAAGGAATTAACAAGATGAACC -3'

Posted On

2022-03-25