Mutagenetix > Incidental Mutation

Incidental Mutation 'R8007:Anapc5'

616682

Institutional Source

Beutler Lab

Gene Symbol

Anapc5

Ensembl Gene

ENSMUSG00000029472

Gene Name

anaphase-promoting complex subunit 5

Synonyms

2510006G12Rik

MMRRC Submission

046047-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R8007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122925522-122959402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122929963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 543 (T543A)

Ref Sequence

ENSEMBL: ENSMUSP00000083393 (fasta)

Gene Model

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

AlphaFold

Q8BTZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000086216
AA Change: T543A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: T543A

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 benign
Transcript: ENSMUST00000196640
AA Change: T543A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: T543A

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

probably benign
Transcript: ENSMUST00000197074
AA Change: T535A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: T535A

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 benign
Transcript: ENSMUST00000197719
AA Change: T530A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: T530A

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

probably benign
Transcript: ENSMUST00000199406
AA Change: T543A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: T543A

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: ENSMUST00000200645
AA Change: T530A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: T530A

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,647,845 (GRCm39)		probably benign	Het
A430033K04Rik	T	C	5: 138,644,901 (GRCm39)	I262T	probably benign	Het
Acacb	A	G	5: 114,356,935 (GRCm39)	R1289G	probably damaging	Het
Adgre4	A	T	17: 56,121,233 (GRCm39)	H433L	probably damaging	Het
Adgrv1	A	G	13: 81,431,585 (GRCm39)	F5948L	probably benign	Het
Adtrp	A	T	13: 41,969,707 (GRCm39)	D97E	probably damaging	Het
Ank2	G	C	3: 126,730,096 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,289,405 (GRCm39)	A813V	probably benign	Het
Cc2d2a	T	A	5: 43,863,442 (GRCm39)	Y684N	possibly damaging	Het
Cenpf	G	A	1: 189,379,144 (GRCm39)	P35L		Het
Chtf18	A	G	17: 25,944,508 (GRCm39)	F281L	probably damaging	Het
Clstn1	T	C	4: 149,716,305 (GRCm39)	V257A	probably damaging	Het
Cnmd	A	T	14: 79,875,406 (GRCm39)	V338E	probably damaging	Het
Col6a3	A	C	1: 90,705,179 (GRCm39)	F2848V	unknown	Het
Corin	T	C	5: 72,473,446 (GRCm39)	S888G	probably damaging	Het
Ctss	A	T	3: 95,457,465 (GRCm39)	S309C	probably null	Het
Dmxl2	G	A	9: 54,290,975 (GRCm39)	Q2492*	probably null	Het
Exoc7	C	T	11: 116,197,465 (GRCm39)	R12Q	possibly damaging	Het
F12	A	G	13: 55,566,265 (GRCm39)	I509T	probably damaging	Het
F13b	A	G	1: 139,434,680 (GRCm39)	K149E	probably benign	Het
Fasn	A	G	11: 120,700,353 (GRCm39)	I2159T	probably benign	Het
Fgfr2	A	T	7: 129,765,719 (GRCm39)	Y831*	probably null	Het
Foxp1	A	T	6: 98,918,595 (GRCm39)	S514R	unknown	Het
Gm11569	A	G	11: 99,689,688 (GRCm39)	S4P	unknown	Het
Gria4	T	C	9: 4,503,740 (GRCm39)		probably benign	Het
Hnrnpul2	T	A	19: 8,798,179 (GRCm39)		probably null	Het
Ibtk	A	T	9: 85,572,770 (GRCm39)	D1257E	probably benign	Het
Ip6k2	T	C	9: 108,682,955 (GRCm39)	V355A	probably benign	Het
Kcnd2	G	A	6: 21,217,073 (GRCm39)	R259H	probably damaging	Het
Kcnj2	A	C	11: 110,963,884 (GRCm39)	E425D	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgi2	C	A	5: 52,723,375 (GRCm39)	A25S	probably benign	Het
Lrp2	T	C	2: 69,336,849 (GRCm39)	T1308A	probably benign	Het
Ly6g2	A	G	15: 75,088,552 (GRCm39)	T7A	probably benign	Het
Matn2	A	T	15: 34,426,315 (GRCm39)	N609I	probably benign	Het
Mocs2	T	A	13: 114,957,409 (GRCm39)	S9T	possibly damaging	Het
Nebl	T	A	2: 17,375,300 (GRCm39)	I102F		Het
Nudt19	A	G	7: 35,255,045 (GRCm39)	V62A	probably benign	Het
Or10u4	T	A	10: 129,801,744 (GRCm39)	D269V	possibly damaging	Het
Or12k8	T	A	2: 36,974,855 (GRCm39)	R302W	probably damaging	Het
Or4a68	C	T	2: 89,270,684 (GRCm39)			Het
Or4k42	A	T	2: 111,320,068 (GRCm39)	V145E	probably damaging	Het
Pacrg	A	G	17: 11,058,919 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,609,874 (GRCm39)	I1529T	probably damaging	Het
Pcdhga7	A	T	18: 37,849,946 (GRCm39)	H651L	probably benign	Het
Plch2	A	G	4: 155,087,288 (GRCm39)	L321P	probably damaging	Het
Ppargc1b	A	T	18: 61,443,565 (GRCm39)	S549T	possibly damaging	Het
Rtel1	T	A	2: 180,976,767 (GRCm39)	N254K	probably damaging	Het
Rtl1	T	C	12: 109,558,060 (GRCm39)	N1260D	possibly damaging	Het
Samd7	T	A	3: 30,812,531 (GRCm39)	W324R	probably damaging	Het
Serpinb9e	A	G	13: 33,435,605 (GRCm39)	I13V	probably benign	Het
Skint10	A	G	4: 112,568,865 (GRCm39)	L284S	possibly damaging	Het
Slc25a38	T	A	9: 119,951,208 (GRCm39)	I247K	possibly damaging	Het
Smarce1	G	C	11: 99,115,876 (GRCm39)	N48K	possibly damaging	Het
Stmn4	T	G	14: 66,593,032 (GRCm39)		probably benign	Het
Stt3a	G	C	9: 36,653,065 (GRCm39)	T539R	probably damaging	Het
Tab1	G	A	15: 80,042,969 (GRCm39)	V388I	possibly damaging	Het
Tcf12	G	C	9: 71,841,905 (GRCm39)		probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trp53inp1	T	C	4: 11,164,525 (GRCm39)	F23S	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Yae1d1	G	A	13: 18,164,329 (GRCm39)	S96L	probably damaging	Het
Zfp142	T	C	1: 74,610,655 (GRCm39)	I1047V	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
R0399:Anapc5	UTSW	5	122,929,816 (GRCm39)	missense	probably damaging	0.99
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
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'- GTACAGCTCTGCCACCGAT -3'
(R):5'- AAAAGTCAAGGGTGTGATTTGTTGTT -3'

Sequencing Primer
(F):5'- CGATAGGAGGACACTGAACAG -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'

Posted On

2020-01-23