Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Anapc5'

58061

Institutional Source

Beutler Lab

Gene Symbol

Anapc5

Ensembl Gene

ENSMUSG00000029472

Gene Name

anaphase-promoting complex subunit 5

Synonyms

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122787459-122821339 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122800632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 360 (Y360N)

Ref Sequence

ENSEMBL: ENSMUSP00000142429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086216] [ENSMUST00000196423] [ENSMUST00000196640] [ENSMUST00000197074] [ENSMUST00000197719] [ENSMUST00000199406] [ENSMUST00000200645]

AlphaFold

Q8BTZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000086216
AA Change: Y360N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: Y360N

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
Pfam:ANAPC5	239	339	3.5e-34	PFAM
Pfam:ANAPC5	383	478	3.1e-3	PFAM
Blast:TPR	526	559	8e-12	BLAST
Blast:TPR	566	599	5e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000196423

SMART Domains

Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
Pfam:Apc5	239	339	1.9e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196640
AA Change: Y360N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: Y360N

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
Pfam:Apc5	239	339	4.8e-31	PFAM
Pfam:Apc5	383	478	5.1e0	PFAM
Blast:TPR	526	559	7e-12	BLAST
Blast:TPR	566	599	5e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196753

Predicted Effect

probably benign
Transcript: ENSMUST00000197074

SMART Domains

Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
Pfam:Apc5	239	339	3.9e-34	PFAM
Pfam:Apc5	375	470	4.1e-3	PFAM
Blast:TPR	518	551	7e-12	BLAST
Blast:TPR	558	591	5e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197554

Predicted Effect

probably benign
Transcript: ENSMUST00000197719

SMART Domains

Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
Pfam:Apc5	239	339	4.7e-31	PFAM
Pfam:Apc5	370	465	5e0	PFAM
Blast:TPR	513	546	7e-12	BLAST
Blast:TPR	553	586	5e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199025

Predicted Effect

probably damaging
Transcript: ENSMUST00000199406
AA Change: Y360N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: Y360N

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
Pfam:Apc5	239	339	4.1e-31	PFAM
Pfam:TPR_10	287	322	2.7e-1	PFAM
Pfam:Apc5	383	478	4.4e0	PFAM
Pfam:TPR_10	533	577	2e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200415

Predicted Effect

probably benign
Transcript: ENSMUST00000200645

SMART Domains

Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
Pfam:Apc5	239	339	3.9e-34	PFAM
Pfam:Apc5	370	465	4.1e-3	PFAM
Blast:TPR	513	546	7e-12	BLAST
Blast:TPR	553	586	5e-9	BLAST

Meta Mutation Damage Score

0.4160

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	G	14: 95,881,943 (GRCm38)	N45K	probably damaging	Het
Adamts8	A	T	9: 30,943,511 (GRCm38)	R18S	probably damaging	Het
Adgb	G	A	10: 10,391,729 (GRCm38)	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,400,222 (GRCm38)	V416A	probably damaging	Het
Alox5	C	T	6: 116,420,384 (GRCm38)	G280R	probably damaging	Het
Apbb1	C	T	7: 105,558,963 (GRCm38)	V685I	probably damaging	Het
Apc2	C	A	10: 80,307,455 (GRCm38)	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,855,387 (GRCm38)	W1170*	probably null	Het
Atat1	G	A	17: 35,901,423 (GRCm38)	R305C	probably damaging	Het
Brd8dc	A	G	18: 34,586,266 (GRCm38)	V167A	possibly damaging	Het
Cars2	T	C	8: 11,550,511 (GRCm38)	D56G	probably benign	Het
Cdc42bpb	T	C	12: 111,345,555 (GRCm38)	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,980 (GRCm38)	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,550,743 (GRCm38)	L148P	probably damaging	Het
Cntn4	A	G	6: 106,679,248 (GRCm38)		probably null	Het
Cpe	G	A	8: 64,609,203 (GRCm38)	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,531,782 (GRCm38)	D19G	probably benign	Het
Ddx25	C	A	9: 35,545,972 (GRCm38)	R349L	probably damaging	Het
Depdc7	T	C	2: 104,722,881 (GRCm38)	D446G	probably benign	Het
Det1	T	A	7: 78,843,935 (GRCm38)	N107I	probably benign	Het
Dock6	A	T	9: 21,844,417 (GRCm38)	D170E	probably benign	Het
Dvl1	C	T	4: 155,858,295 (GRCm38)	L673F	probably damaging	Het
Gucy1b1	A	T	3: 82,045,460 (GRCm38)	I222K	probably benign	Het
Hfm1	T	C	5: 106,917,601 (GRCm38)	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,769,223 (GRCm38)	E310G	probably damaging	Het
Impg1	T	C	9: 80,394,155 (GRCm38)	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,374,456 (GRCm38)	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,490,256 (GRCm38)	G360D	probably benign	Het
Kif14	C	T	1: 136,527,305 (GRCm38)	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,302,685 (GRCm38)	H568Q	unknown	Het
Lgi2	A	G	5: 52,554,460 (GRCm38)	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,081,991 (GRCm38)	Y225S	probably benign	Het
Lpin3	A	G	2: 160,903,974 (GRCm38)	H675R	probably damaging	Het
Lrp2	C	A	2: 69,448,120 (GRCm38)	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,684,575 (GRCm38)	D13E	possibly damaging	Het
Map1a	T	C	2: 121,308,014 (GRCm38)	V2753A	probably damaging	Het
Mitf	C	A	6: 98,003,904 (GRCm38)	N97K	probably damaging	Het
Msh2	A	G	17: 87,672,810 (GRCm38)		probably null	Het
Msr1	T	C	8: 39,620,000 (GRCm38)	E170G	probably damaging	Het
Myrip	C	A	9: 120,388,236 (GRCm38)	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782 (GRCm38)		probably null	Het
Neto1	C	T	18: 86,404,729 (GRCm38)	R104*	probably null	Het
Nom1	A	C	5: 29,451,100 (GRCm38)	K821T	probably damaging	Het
Nrxn1	A	G	17: 90,704,181 (GRCm38)	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,396,597 (GRCm38)	I334F	probably benign	Het
Or1e23	A	G	11: 73,516,927 (GRCm38)	S91P	probably benign	Het
Or2ag1	T	C	7: 106,713,977 (GRCm38)	K235E	probably benign	Het
Or4a74	T	C	2: 89,609,374 (GRCm38)	M243V	probably benign	Het
Or5al7	T	A	2: 86,162,091 (GRCm38)	N286I	probably damaging	Het
Or5b124	T	C	19: 13,633,336 (GRCm38)	V75A	probably damaging	Het
Or8k27	C	T	2: 86,445,129 (GRCm38)	M284I	probably benign	Het
Padi4	A	G	4: 140,757,585 (GRCm38)	S322P	probably damaging	Het
Peli3	A	G	19: 4,941,782 (GRCm38)	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,907,903 (GRCm38)	S163P	probably damaging	Het
Prom2	T	C	2: 127,539,525 (GRCm38)	D227G	probably benign	Het
Ptgfr	C	T	3: 151,801,763 (GRCm38)	R321H	probably benign	Het
Resf1	A	T	6: 149,325,701 (GRCm38)	I82L	probably benign	Het
Rgs3	G	A	4: 62,625,906 (GRCm38)	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,844,107 (GRCm38)	N3T	possibly damaging	Het
Rif1	T	C	2: 52,112,563 (GRCm38)	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690 (GRCm38)	F408L	probably damaging	Het
Rtn3	T	G	19: 7,457,593 (GRCm38)	T326P	probably benign	Het
Slc18b1	A	C	10: 23,806,038 (GRCm38)	M167L	probably benign	Het
Slc22a26	A	G	19: 7,788,210 (GRCm38)		probably null	Het
Slitrk6	T	C	14: 110,751,885 (GRCm38)	D130G	probably damaging	Het
Snap47	A	G	11: 59,428,613 (GRCm38)	V233A	probably benign	Het
Sumf1	A	C	6: 108,144,671 (GRCm38)	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,220,310 (GRCm38)	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,188,526 (GRCm38)	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 57,049,414 (GRCm38)	I56V	probably benign	Het
Ttc21b	A	G	2: 66,236,233 (GRCm38)	S359P	probably benign	Het
Ttc27	T	C	17: 74,729,977 (GRCm38)	I215T	probably benign	Het
Ttn	C	T	2: 76,724,195 (GRCm38)	V30759I	possibly damaging	Het
Vdac3	T	C	8: 22,580,388 (GRCm38)	N168S	probably damaging	Het
Wdr7	T	C	18: 63,865,300 (GRCm38)	V1106A	probably benign	Het
Wrap73	T	A	4: 154,142,491 (GRCm38)	F16Y	probably damaging	Het
Zfat	C	A	15: 68,180,803 (GRCm38)	D381Y	probably damaging	Het

Other mutations in Anapc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Anapc5	APN	5	122,800,613 (GRCm38)	missense	possibly damaging	0.95
IGL03158:Anapc5	APN	5	122,817,897 (GRCm38)	missense	probably benign
R0137:Anapc5	UTSW	5	122,800,632 (GRCm38)	missense	probably damaging	1.00
R0319:Anapc5	UTSW	5	122,818,856 (GRCm38)	missense	probably damaging	0.99
R0326:Anapc5	UTSW	5	122,814,604 (GRCm38)	missense	probably benign	0.40
R0399:Anapc5	UTSW	5	122,791,753 (GRCm38)	missense	probably damaging	0.99
R1173:Anapc5	UTSW	5	122,788,418 (GRCm38)	missense	possibly damaging	0.49
R1723:Anapc5	UTSW	5	122,799,343 (GRCm38)	missense	probably damaging	0.96
R2018:Anapc5	UTSW	5	122,800,524 (GRCm38)	missense	probably damaging	1.00
R2114:Anapc5	UTSW	5	122,787,938 (GRCm38)	missense	probably benign	0.06
R4211:Anapc5	UTSW	5	122,817,905 (GRCm38)	missense	probably benign
R4287:Anapc5	UTSW	5	122,800,601 (GRCm38)	missense	probably benign	0.02
R4533:Anapc5	UTSW	5	122,791,735 (GRCm38)	missense	possibly damaging	0.86
R4905:Anapc5	UTSW	5	122,817,910 (GRCm38)	missense	probably benign	0.00
R5336:Anapc5	UTSW	5	122,807,337 (GRCm38)	missense	probably damaging	1.00
R5499:Anapc5	UTSW	5	122,788,413 (GRCm38)	missense	probably damaging	1.00
R5568:Anapc5	UTSW	5	122,791,925 (GRCm38)	utr 3 prime	probably benign
R6481:Anapc5	UTSW	5	122,800,544 (GRCm38)	missense	probably benign	0.27
R7461:Anapc5	UTSW	5	122,818,865 (GRCm38)	missense	probably damaging	1.00
R7613:Anapc5	UTSW	5	122,818,865 (GRCm38)	missense	probably damaging	1.00
R7681:Anapc5	UTSW	5	122,802,139 (GRCm38)	missense	probably benign	0.01
R7912:Anapc5	UTSW	5	122,793,435 (GRCm38)	critical splice donor site	probably null
R8007:Anapc5	UTSW	5	122,791,900 (GRCm38)	missense	probably benign
R8080:Anapc5	UTSW	5	122,807,338 (GRCm38)	missense	probably damaging	1.00
R8488:Anapc5	UTSW	5	122,817,970 (GRCm38)	makesense	probably null
R8517:Anapc5	UTSW	5	122,821,030 (GRCm38)	missense	probably benign
R9036:Anapc5	UTSW	5	122,819,653 (GRCm38)	missense	possibly damaging	0.46
R9464:Anapc5	UTSW	5	122,802,146 (GRCm38)	missense	probably benign	0.00
R9471:Anapc5	UTSW	5	122,806,245 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCCTCGGTGACCATTTCCATAG -3'
(R):5'- CCCTAGCGTTTCAGGAACATAGCTC -3'

Sequencing Primer
(F):5'- GACCATTTCCATAGCGCCTG -3'
(R):5'- TGTCACTGTGCATGTGCT -3'

Posted On

2013-07-11