Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Anapc5'

38045

Institutional Source

Beutler Lab

Gene Symbol

Anapc5

Ensembl Gene

ENSMUSG00000029472

Gene Name

anaphase-promoting complex subunit 5

Synonyms

2510006G12Rik

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R0399 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

122925522-122959402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122929816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 555 (V555D)

Ref Sequence

ENSEMBL: ENSMUSP00000142922 (fasta)

Gene Model

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

AlphaFold

Q8BTZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000086216
AA Change: V568D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: V568D

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: V568D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: V568D

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 damaging
Transcript: ENSMUST00000197074
AA Change: V560D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: V560D

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

probably damaging
Transcript: ENSMUST00000197719
AA Change: V555D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: V555D

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: ENSMUST00000200645
AA Change: V555D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: V555D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199130

Predicted Effect

probably benign
Transcript: ENSMUST00000199406

SMART Domains

Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472

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: ENSMUST00000199191

Meta Mutation Damage Score

0.8172

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,231,174 (GRCm39)	M120T	unknown	Het
Actr1a	A	T	19: 46,373,450 (GRCm39)		probably null	Het
Aox1	A	G	1: 58,108,008 (GRCm39)		probably null	Het
Arhgap30	A	G	1: 171,232,384 (GRCm39)	E343G	probably damaging	Het
Asap2	C	T	12: 21,267,998 (GRCm39)	T291I	possibly damaging	Het
Atp5f1a	T	A	18: 77,869,536 (GRCm39)	Y439*	probably null	Het
Auts2	A	T	5: 131,469,362 (GRCm39)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,233,433 (GRCm39)	C109*	probably null	Het
C4b	C	A	17: 34,947,843 (GRCm39)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,544,225 (GRCm39)	L268*	probably null	Het
Cep290	G	A	10: 100,390,262 (GRCm39)		probably benign	Het
Cep68	T	G	11: 20,180,571 (GRCm39)	I687L	probably benign	Het
Chd6	T	A	2: 160,894,608 (GRCm39)	D84V	probably damaging	Het
Clpx	A	G	9: 65,230,051 (GRCm39)	T514A	probably benign	Het
Cox18	A	T	5: 90,362,887 (GRCm39)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,289,586 (GRCm39)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,640,016 (GRCm39)	A339V	possibly damaging	Het
Dock1	T	C	7: 134,765,171 (GRCm39)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,380,818 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
Ehf	A	G	2: 103,097,215 (GRCm39)	Y246H	probably damaging	Het
Epas1	T	C	17: 87,112,621 (GRCm39)	V73A	probably benign	Het
Filip1	A	G	9: 79,725,592 (GRCm39)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,276,168 (GRCm39)		probably benign	Het
Gm17333	A	T	16: 77,649,678 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,200,346 (GRCm39)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,076,853 (GRCm39)	D83G	probably damaging	Het
Grid2	A	G	6: 64,643,036 (GRCm39)	I933V	probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hook2	A	G	8: 85,720,196 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,269,314 (GRCm39)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm39)	T241S	probably benign	Het
Kank1	A	G	19: 25,388,606 (GRCm39)	I760V	probably benign	Het
Kansl1	T	C	11: 104,314,958 (GRCm39)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,119,446 (GRCm39)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,557,935 (GRCm39)	N217S	probably benign	Het
Lct	T	C	1: 128,228,262 (GRCm39)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,517,529 (GRCm39)		probably benign	Het
Lrrn1	T	A	6: 107,546,081 (GRCm39)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,342,558 (GRCm39)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,336,299 (GRCm39)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,209,075 (GRCm39)		probably benign	Het
Naa25	A	T	5: 121,573,553 (GRCm39)	M761L	probably benign	Het
Ncln	G	A	10: 81,324,131 (GRCm39)	A465V	probably damaging	Het
Nktr	A	G	9: 121,560,550 (GRCm39)	N98S	probably damaging	Het
Or52h9	T	A	7: 104,202,576 (GRCm39)	V150E	probably benign	Het
Or5a1	G	C	19: 12,097,734 (GRCm39)	A114G	possibly damaging	Het
Or6d15	C	A	6: 116,559,742 (GRCm39)	S55I	probably benign	Het
Or8b4	G	T	9: 37,830,849 (GRCm39)	A304S	possibly damaging	Het
Or9g3	T	C	2: 85,590,248 (GRCm39)	I157M	possibly damaging	Het
Pacsin2	T	C	15: 83,270,983 (GRCm39)	Y222C	probably damaging	Het
Pcdhb15	C	T	18: 37,607,221 (GRCm39)	T151M	possibly damaging	Het
Plcz1	C	A	6: 139,968,956 (GRCm39)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,090,136 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,678,684 (GRCm39)		probably benign	Het
Rhbdf2	T	A	11: 116,494,818 (GRCm39)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,122,815 (GRCm39)	Y156*	probably null	Het
Spata46	A	G	1: 170,139,106 (GRCm39)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,584,926 (GRCm39)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,092,134 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,991 (GRCm39)	V320E	possibly damaging	Het
Trib2	T	C	12: 15,843,664 (GRCm39)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,666,701 (GRCm39)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,490,358 (GRCm39)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,770,973 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,656,841 (GRCm39)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 11,927,244 (GRCm39)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,794 (GRCm39)	S300G	probably benign	Het

Other mutations in Anapc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Anapc5	APN	5	122,938,676 (GRCm39)	missense	possibly damaging	0.95
IGL03158:Anapc5	APN	5	122,955,960 (GRCm39)	missense	probably benign
R0137:Anapc5	UTSW	5	122,938,695 (GRCm39)	missense	probably damaging	1.00
R0319:Anapc5	UTSW	5	122,956,919 (GRCm39)	missense	probably damaging	0.99
R0326:Anapc5	UTSW	5	122,952,667 (GRCm39)	missense	probably benign	0.40
R0633:Anapc5	UTSW	5	122,938,695 (GRCm39)	missense	probably damaging	1.00
R1173:Anapc5	UTSW	5	122,926,481 (GRCm39)	missense	possibly damaging	0.49
R1723:Anapc5	UTSW	5	122,937,406 (GRCm39)	missense	probably damaging	0.96
R2018:Anapc5	UTSW	5	122,938,587 (GRCm39)	missense	probably damaging	1.00
R2114:Anapc5	UTSW	5	122,926,001 (GRCm39)	missense	probably benign	0.06
R4211:Anapc5	UTSW	5	122,955,968 (GRCm39)	missense	probably benign
R4287:Anapc5	UTSW	5	122,938,664 (GRCm39)	missense	probably benign	0.02
R4533:Anapc5	UTSW	5	122,929,798 (GRCm39)	missense	possibly damaging	0.86
R4905:Anapc5	UTSW	5	122,955,973 (GRCm39)	missense	probably benign	0.00
R5336:Anapc5	UTSW	5	122,945,400 (GRCm39)	missense	probably damaging	1.00
R5499:Anapc5	UTSW	5	122,926,476 (GRCm39)	missense	probably damaging	1.00
R5568:Anapc5	UTSW	5	122,929,988 (GRCm39)	utr 3 prime	probably benign
R6481:Anapc5	UTSW	5	122,938,607 (GRCm39)	missense	probably benign	0.27
R7461:Anapc5	UTSW	5	122,956,928 (GRCm39)	missense	probably damaging	1.00
R7613:Anapc5	UTSW	5	122,956,928 (GRCm39)	missense	probably damaging	1.00
R7681:Anapc5	UTSW	5	122,940,202 (GRCm39)	missense	probably benign	0.01
R7912:Anapc5	UTSW	5	122,931,498 (GRCm39)	critical splice donor site	probably null
R8007:Anapc5	UTSW	5	122,929,963 (GRCm39)	missense	probably benign
R8080:Anapc5	UTSW	5	122,945,401 (GRCm39)	missense	probably damaging	1.00
R8488:Anapc5	UTSW	5	122,956,033 (GRCm39)	makesense	probably null
R8517:Anapc5	UTSW	5	122,959,093 (GRCm39)	missense	probably benign
R9036:Anapc5	UTSW	5	122,957,716 (GRCm39)	missense	possibly damaging	0.46
R9464:Anapc5	UTSW	5	122,940,209 (GRCm39)	missense	probably benign	0.00
R9471:Anapc5	UTSW	5	122,944,308 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCTGGGCATAAGCCAAGTTGAGC -3'
(R):5'- TGATCCCAAATGGCTACAGTTGAAAGG -3'

Sequencing Primer
(F):5'- GCCAAGTTGAGCACAGTTTC -3'
(R):5'- TTGAAAGGCTTGCAGACCTC -3'

Posted On

2013-05-23