Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02692:Anapc4'

303800

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anapc4

Ensembl Gene

ENSMUSG00000029176

Gene Name

anaphase promoting complex subunit 4

Synonyms

2610306D21Rik, D5Ertd249e, APC4

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02692

Quality Score

Status

Chromosome

Chromosomal Location

52834012-52867797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52864529 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 651 (V651A)

Ref Sequence

ENSEMBL: ENSMUSP00000031072 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031072
AA Change: V651A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031072
Gene: ENSMUSG00000029176
AA Change: V651A

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: ENSMUST00000131750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138629

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: ENSMUST00000145349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154980

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	C	10: 100,603,548	S72R	probably benign	Het
4930544G11Rik	T	C	6: 65,952,808	V9A	probably damaging	Het
Actl11	A	G	9: 107,929,308	N277D	probably benign	Het
Adam2	T	A	14: 66,074,087	I57F	probably damaging	Het
Adgrf1	T	C	17: 43,303,778	F251S	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,227	I64V	probably benign	Het
Atl2	T	C	17: 79,865,053	N163D	probably benign	Het
B4galnt3	G	A	6: 120,210,311	R708C	probably damaging	Het
Capza2	C	T	6: 17,654,116	Q56*	probably null	Het
Cspg4	T	A	9: 56,887,454	H824Q	probably benign	Het
Dock7	G	A	4: 98,987,386	P1106S	probably damaging	Het
Fat4	A	G	3: 38,951,086	Y1878C	probably damaging	Het
Grk2	A	T	19: 4,290,688		probably benign	Het
Lmbrd2	G	A	15: 9,149,068	V13I	possibly damaging	Het
Loxhd1	G	T	18: 77,356,913	C336F	probably damaging	Het
Morc1	T	A	16: 48,510,233	F355L	probably null	Het
Mov10	C	A	3: 104,800,803	E503*	probably null	Het
Nt5dc3	T	A	10: 86,804,778		probably null	Het
Olfr317	A	G	11: 58,732,517	V216A	probably benign	Het
Phf20	T	A	2: 156,298,578	M724K	probably damaging	Het
Pla2g2e	G	T	4: 138,882,559		probably benign	Het
Polq	T	A	16: 37,060,627	V772E	probably damaging	Het
Rhoh	A	G	5: 65,892,800	R138G	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sept7	A	G	9: 25,296,490		probably benign	Het
Serpina9	A	C	12: 104,008,406	F163V	probably damaging	Het
Slc2a13	A	T	15: 91,321,658	F442Y	probably benign	Het
Slc34a1	G	A	13: 55,403,236		probably benign	Het
Slc6a11	T	C	6: 114,162,139	F236S	probably damaging	Het
Usp1	A	G	4: 98,928,960	K130E	probably benign	Het
Zfp386	A	G	12: 116,059,235	E156G	probably damaging	Het
Zfp957	C	T	14: 79,213,385	V325I	unknown	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
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
R1942:Anapc4	UTSW	5	52846714	missense	probably benign	0.30
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
R7920:Anapc4	UTSW	5	52859208	critical splice donor site	probably null

Posted On

2015-04-16