Mutagenetix > Incidental Mutation

Incidental Mutation 'R9036:Anapc5'

687384

Institutional Source

Beutler Lab

Gene Symbol

Anapc5

Ensembl Gene

ENSMUSG00000029472

Gene Name

anaphase-promoting complex subunit 5

Synonyms

2510006G12Rik

MMRRC Submission

068865-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R9036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122925522-122959402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122957716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 69 (L69P)

Ref Sequence

ENSEMBL: ENSMUSP00000083393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086216] [ENSMUST00000196423] [ENSMUST00000196640] [ENSMUST00000197074] [ENSMUST00000197719] [ENSMUST00000199406] [ENSMUST00000199926] [ENSMUST00000200645]

AlphaFold

Q8BTZ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086216
AA Change: L69P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083393
Gene: ENSMUSG00000029472
AA Change: L69P

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
AA Change: L69P

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143169
Gene: ENSMUSG00000029472
AA Change: L69P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196640
AA Change: L69P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142429
Gene: ENSMUSG00000029472
AA Change: L69P

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

possibly damaging
Transcript: ENSMUST00000197074
AA Change: L69P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143053
Gene: ENSMUSG00000029472
AA Change: L69P

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

possibly damaging
Transcript: ENSMUST00000197719
AA Change: L69P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142579
Gene: ENSMUSG00000029472
AA Change: L69P

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

possibly damaging
Transcript: ENSMUST00000199406
AA Change: L69P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142341
Gene: ENSMUSG00000029472
AA Change: L69P

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

possibly damaging
Transcript: ENSMUST00000199926
AA Change: L69P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142981
Gene: ENSMUSG00000029472
AA Change: L69P

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200645
AA Change: L69P

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142922
Gene: ENSMUSG00000029472
AA Change: L69P

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

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.] 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	T	11: 54,227,840 (GRCm39)		probably null	Het
Aoc1l3	CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC	CCTAAATTTCC	6: 48,965,074 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,259,055 (GRCm39)	S681T	probably benign	Het
Arhgef19	A	G	4: 140,976,549 (GRCm39)	D437G	probably damaging	Het
Arhgef25	A	G	10: 127,019,089 (GRCm39)	V576A	probably benign	Het
Arl5b	T	C	2: 15,073,012 (GRCm39)		probably null	Het
Atg10	T	A	13: 91,189,071 (GRCm39)	T80S	probably benign	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Bicdl2	C	T	17: 23,887,158 (GRCm39)	R482C	probably damaging	Het
Ccdc63	G	A	5: 122,247,346 (GRCm39)	P500S	probably benign	Het
Ccn2	A	T	10: 24,472,647 (GRCm39)	T186S	probably benign	Het
Ccng1	A	T	11: 40,643,078 (GRCm39)	I123K	possibly damaging	Het
Ccp110	C	T	7: 118,324,680 (GRCm39)	S734F	probably damaging	Het
Cds2	T	C	2: 132,139,614 (GRCm39)		probably null	Het
Cenpw	G	A	10: 30,074,523 (GRCm39)	T58I	probably benign	Het
Cfap61	T	A	2: 145,850,839 (GRCm39)	L326I	probably benign	Het
Cgn	T	A	3: 94,674,551 (GRCm39)	Q862L	possibly damaging	Het
Cntrl	T	A	2: 35,016,071 (GRCm39)	D362E	probably damaging	Het
Col22a1	C	T	15: 71,762,431 (GRCm39)	G76E	probably damaging	Het
Cplane1	C	T	15: 8,252,622 (GRCm39)	T1948I	possibly damaging	Het
Crip2	A	G	12: 113,108,030 (GRCm39)	T140A	probably benign	Het
Csde1	T	C	3: 102,950,976 (GRCm39)	V229A	probably damaging	Het
Cyp2d34	A	G	15: 82,500,523 (GRCm39)	F439L	probably damaging	Het
Dync1h1	A	G	12: 110,606,186 (GRCm39)	T2419A	probably benign	Het
Dync2h1	A	T	9: 7,051,495 (GRCm39)	F3147I	probably damaging	Het
Dynlt1f	T	C	17: 6,916,707 (GRCm39)	T101A	probably benign	Het
Efcab3	A	G	11: 104,927,601 (GRCm39)	H4790R	probably benign	Het
Efcab8	G	A	2: 153,622,888 (GRCm39)	S19N		Het
Eno2	A	T	6: 124,740,091 (GRCm39)	I315K	possibly damaging	Het
Erich3	A	G	3: 154,468,886 (GRCm39)	T1113A	unknown	Het
Fam217a	A	T	13: 35,095,007 (GRCm39)	Y251N	possibly damaging	Het
Fcrlb	A	T	1: 170,734,938 (GRCm39)	H396Q	probably benign	Het
Fcsk	A	G	8: 111,614,064 (GRCm39)	V693A	probably benign	Het
Fgd5	A	T	6: 92,046,447 (GRCm39)	K1397*	probably null	Het
Frem1	C	A	4: 82,831,785 (GRCm39)	L2010F	probably benign	Het
Fzd8	A	G	18: 9,214,661 (GRCm39)	Y581C	probably damaging	Het
Gcc2	T	C	10: 58,106,411 (GRCm39)	V549A	possibly damaging	Het
Gcnt4	G	A	13: 97,083,042 (GRCm39)	V113I	probably benign	Het
Gldn	A	G	9: 54,245,747 (GRCm39)	I433V	probably benign	Het
Gm3336	A	G	8: 71,173,069 (GRCm39)	D27G	unknown	Het
Gm6133	T	A	18: 78,393,146 (GRCm39)	Y47N	probably damaging	Het
Gm8257	A	T	14: 44,893,877 (GRCm39)	N62K	probably benign	Het
Gpr18	T	G	14: 122,149,667 (GRCm39)	R119S	probably damaging	Het
Grm5	A	T	7: 87,685,397 (GRCm39)	I505F	possibly damaging	Het
Hdgfl1	T	C	13: 26,953,428 (GRCm39)	E215G	probably benign	Het
Heg1	T	A	16: 33,527,339 (GRCm39)	C100S	probably benign	Het
Isg20l2	T	C	3: 87,839,302 (GRCm39)	V171A	probably benign	Het
Lrrc49	A	T	9: 60,495,150 (GRCm39)	C694S	probably benign	Het
Map7d1	A	T	4: 126,133,911 (GRCm39)	I217N	probably damaging	Het
Mbnl2	A	T	14: 120,562,712 (GRCm39)	Q21L	probably benign	Het
Mfsd10	A	T	5: 34,792,751 (GRCm39)	F220Y	probably benign	Het
Mmp1b	A	C	9: 7,387,909 (GRCm39)	N28K	probably null	Het
Muc16	A	T	9: 18,555,975 (GRCm39)	N3439K	unknown	Het
Myef2l	C	A	3: 10,157,341 (GRCm39)	Q495K	unknown	Het
Myo9a	A	T	9: 59,687,584 (GRCm39)	K230*	probably null	Het
Mysm1	T	C	4: 94,835,294 (GRCm39)	T790A	probably benign	Het
Nell2	C	T	15: 95,194,117 (GRCm39)	C532Y	probably damaging	Het
Nmnat1	T	A	4: 149,553,482 (GRCm39)	N210I	probably damaging	Het
Or14j7	T	G	17: 38,235,168 (GRCm39)	V237G	probably benign	Het
Or2aj6	A	T	16: 19,443,295 (GRCm39)	L185*	probably null	Het
Or4k41	T	C	2: 111,280,343 (GRCm39)	I286T	probably damaging	Het
Or7g16	G	A	9: 18,727,569 (GRCm39)	T7I	probably damaging	Het
Pabpc6	T	C	17: 9,888,281 (GRCm39)	D90G	probably damaging	Het
Pacs2	A	T	12: 113,026,104 (GRCm39)	I554F	possibly damaging	Het
Padi3	C	A	4: 140,523,004 (GRCm39)	V323L	probably benign	Het
Piezo1	G	A	8: 123,215,090 (GRCm39)	P1484L		Het
Pogk	A	G	1: 166,227,254 (GRCm39)	I299T	possibly damaging	Het
Ptprk	A	G	10: 28,461,928 (GRCm39)	I1164V	probably benign	Het
Raph1	A	G	1: 60,542,124 (GRCm39)	M278T	unknown	Het
Rasa3	T	A	8: 13,645,851 (GRCm39)	Q163L	probably benign	Het
Rbm6	T	A	9: 107,660,911 (GRCm39)	K884I	probably damaging	Het
Rtl1	A	G	12: 109,559,691 (GRCm39)	V716A	probably benign	Het
Sag	A	G	1: 87,749,054 (GRCm39)	K151R	probably damaging	Het
Scara5	G	A	14: 66,000,197 (GRCm39)	V456M	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc4a1	A	T	11: 102,243,279 (GRCm39)	V784D	probably damaging	Het
Sstr1	T	C	12: 58,259,569 (GRCm39)	I64T	possibly damaging	Het
Steap1	A	G	5: 5,790,708 (GRCm39)	I80T	probably benign	Het
Tbc1d24	T	A	17: 24,427,491 (GRCm39)	D157V	probably benign	Het
Thsd7a	T	C	6: 12,418,249 (GRCm39)	E660G		Het
Trappc3l	A	G	10: 33,932,786 (GRCm39)		probably benign	Het
Tsc22d2	T	C	3: 58,323,497 (GRCm39)	S130P	probably benign	Het
Tti2	T	A	8: 31,645,814 (GRCm39)	I376N	probably damaging	Het
Ttll2	C	A	17: 7,619,054 (GRCm39)	W291L	probably benign	Het
Ttll3	G	A	6: 113,376,657 (GRCm39)	V345I	possibly damaging	Het
Ttn	A	G	2: 76,565,046 (GRCm39)	Y28394H	probably damaging	Het
Usp45	A	G	4: 21,832,201 (GRCm39)	Y684C	probably damaging	Het
Vdr	A	G	15: 97,765,089 (GRCm39)	S217P	probably benign	Het
Xpot	A	G	10: 121,447,580 (GRCm39)	L105P	probably damaging	Het
Zan	A	G	5: 137,464,206 (GRCm39)	I533T	probably damaging	Het
Zbtb8a	T	C	4: 129,248,059 (GRCm39)	E404G	probably benign	Het
Zfp106	T	A	2: 120,369,906 (GRCm39)	I62F	probably damaging	Het
Zfp451	A	T	1: 33,815,562 (GRCm39)	F796Y	probably damaging	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
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
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'- GGGGAAGAATACATGAACCTAACTTC -3'
(R):5'- TAACAAAGGAAAGAGAGCCTTATCC -3'

Sequencing Primer
(F):5'- ACAGCTGTGGACCACTATGTCTAG -3'
(R):5'- CTCAGTCCGAAGCTCTTT -3'

Posted On

2021-11-19