Mutagenetix > Incidental Mutation

Incidental Mutation 'R6911:Anapc7'

539018

Institutional Source

Beutler Lab

Gene Symbol

Anapc7

Ensembl Gene

ENSMUSG00000029466

Gene Name

anaphase promoting complex subunit 7

Synonyms

prediabetic NOD sera-reactive autoantigen, APC7

MMRRC Submission

045003-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R6911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122559756-122582975 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 122578343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 443 (K443*)

Ref Sequence

ENSEMBL: ENSMUSP00000113928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031422] [ENSMUST00000119792] [ENSMUST00000122010]

AlphaFold

Q9WVM3

Predicted Effect

probably null
Transcript: ENSMUST00000031422
AA Change: K443*

SMART Domains

Protein: ENSMUSP00000031422
Gene: ENSMUSG00000029466
AA Change: K443*

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
TPR	135	168	7.11e1	SMART
TPR	237	270	1.29e1	SMART
TPR	339	372	2.22e-2	SMART
TPR	475	508	4.09e-1	SMART
low complexity region	530	551	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119792
AA Change: K443*

SMART Domains

Protein: ENSMUSP00000112658
Gene: ENSMUSG00000029466
AA Change: K443*

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
TPR	135	168	7.11e1	SMART
TPR	237	270	1.29e1	SMART
TPR	339	372	2.22e-2	SMART
TPR	442	475	5.76e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000122010
AA Change: K443*

SMART Domains

Protein: ENSMUSP00000113928
Gene: ENSMUSG00000029466
AA Change: K443*

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
TPR	135	168	7.11e1	SMART
TPR	237	270	1.29e1	SMART
TPR	339	372	2.22e-2	SMART
TPR	475	508	4.09e-1	SMART
low complexity region	530	551	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154074

SMART Domains

Protein: ENSMUSP00000123365
Gene: ENSMUSG00000029466

Domain	Start	End	E-Value	Type
Blast:TPR	2	28	2e-8	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

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 proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,948,068 (GRCm39)	M655K	probably benign	Het
Adam34l	A	T	8: 44,078,146 (GRCm39)	F693I	probably benign	Het
Amt	G	T	9: 108,178,428 (GRCm39)		probably null	Het
Apcs	A	G	1: 172,721,752 (GRCm39)	V198A	probably benign	Het
Atp2a1	A	G	7: 126,056,008 (GRCm39)	V271A	probably damaging	Het
Bltp2	T	A	11: 78,159,179 (GRCm39)	I459N	probably damaging	Het
Cdh20	T	C	1: 104,912,411 (GRCm39)	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,563,497 (GRCm39)	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,009 (GRCm39)	D101G	probably damaging	Het
Coq7	T	A	7: 118,109,385 (GRCm39)	H221L	unknown	Het
Depdc5	A	T	5: 33,081,536 (GRCm39)	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,077,446 (GRCm39)	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268 (GRCm39)	H298N	probably benign	Het
Fam162a	A	G	16: 35,866,747 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,525,346 (GRCm39)	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,258,527 (GRCm39)	Q147K	probably damaging	Het
Ganab	T	A	19: 8,885,152 (GRCm39)		probably null	Het
Gfm1	T	C	3: 67,358,636 (GRCm39)	V409A	possibly damaging	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid1	A	T	14: 34,542,185 (GRCm39)	M1L	probably benign	Het
Helz	C	T	11: 107,510,051 (GRCm39)	T558I	probably benign	Het
Htra4	A	G	8: 25,515,721 (GRCm39)	V439A	probably damaging	Het
Kctd17	A	G	15: 78,318,206 (GRCm39)	E95G	probably damaging	Het
Kif18b	T	C	11: 102,807,206 (GRCm39)	D43G	probably damaging	Het
Lrpprc	G	A	17: 85,063,711 (GRCm39)	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,042,529 (GRCm39)	C311*	probably null	Het
Mcoln2	C	T	3: 145,898,011 (GRCm39)	T44I	probably damaging	Het
Med13l	A	G	5: 118,893,723 (GRCm39)	T2010A	possibly damaging	Het
Med23	C	T	10: 24,778,079 (GRCm39)	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Myh13	C	T	11: 67,245,753 (GRCm39)	Q1095*	probably null	Het
Nktr	C	A	9: 121,583,392 (GRCm39)	Y93*	probably null	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Ntrk2	A	T	13: 59,007,029 (GRCm39)	E210D	probably damaging	Het
Nup210	G	T	6: 91,007,112 (GRCm39)	A568E	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or2y1g	A	G	11: 49,171,634 (GRCm39)	I220V	probably benign	Het
Or4g16	A	G	2: 111,136,618 (GRCm39)	T23A	probably benign	Het
Or5as1	T	A	2: 86,980,111 (GRCm39)	K298I	probably damaging	Het
Pdlim5	T	C	3: 142,010,076 (GRCm39)	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per1	C	T	11: 68,994,083 (GRCm39)	T443M	probably damaging	Het
Plxna1	A	G	6: 89,297,956 (GRCm39)	V1774A	probably damaging	Het
Poteg	A	G	8: 27,940,326 (GRCm39)	Y165C	probably damaging	Het
Prlr	A	G	15: 10,329,270 (GRCm39)	T582A	probably benign	Het
Psma5	A	G	3: 108,172,464 (GRCm39)	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	T	C	13: 11,842,445 (GRCm39)	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,541,123 (GRCm39)	I328T	possibly damaging	Het
Slc12a2	G	T	18: 58,052,541 (GRCm39)	V787L	probably benign	Het
St14	C	T	9: 31,018,081 (GRCm39)	R177Q	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,534,987 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,954,863 (GRCm39)	R76G	probably benign	Het
Ube4a	C	T	9: 44,854,056 (GRCm39)	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,510,104 (GRCm39)	V792A	probably damaging	Het
Wdr11	T	C	7: 129,208,819 (GRCm39)	I430T	probably benign	Het
Xkr4	T	C	1: 3,741,544 (GRCm39)	K10E	possibly damaging	Het
Zfp451	T	C	1: 33,842,537 (GRCm39)		probably benign	Het

Other mutations in Anapc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Anapc7	APN	5	122,571,540 (GRCm39)	nonsense	probably null
IGL01434:Anapc7	APN	5	122,576,279 (GRCm39)	missense	probably benign	0.45
IGL01448:Anapc7	APN	5	122,566,276 (GRCm39)	missense	probably damaging	1.00
IGL01862:Anapc7	APN	5	122,578,182 (GRCm39)	missense	probably benign
IGL03040:Anapc7	APN	5	122,571,450 (GRCm39)	nonsense	probably null
IGL03268:Anapc7	APN	5	122,567,669 (GRCm39)	critical splice donor site	probably null
R0603:Anapc7	UTSW	5	122,578,233 (GRCm39)	missense	probably benign	0.40
R1497:Anapc7	UTSW	5	122,573,578 (GRCm39)	splice site	probably benign
R1889:Anapc7	UTSW	5	122,571,539 (GRCm39)	missense	probably damaging	1.00
R1990:Anapc7	UTSW	5	122,577,567 (GRCm39)	missense	probably benign	0.38
R2149:Anapc7	UTSW	5	122,581,889 (GRCm39)	missense	probably benign	0.41
R2877:Anapc7	UTSW	5	122,566,219 (GRCm39)	missense	probably benign	0.35
R3835:Anapc7	UTSW	5	122,581,940 (GRCm39)	missense	possibly damaging	0.83
R4963:Anapc7	UTSW	5	122,560,669 (GRCm39)	missense	probably damaging	0.97
R5373:Anapc7	UTSW	5	122,576,280 (GRCm39)	missense	probably benign	0.01
R5374:Anapc7	UTSW	5	122,576,280 (GRCm39)	missense	probably benign	0.01
R5973:Anapc7	UTSW	5	122,566,366 (GRCm39)	missense	probably benign
R7287:Anapc7	UTSW	5	122,571,499 (GRCm39)	missense	probably benign	0.08
R8375:Anapc7	UTSW	5	122,566,342 (GRCm39)	missense	probably benign	0.05
R8700:Anapc7	UTSW	5	122,560,669 (GRCm39)	missense	probably damaging	0.97
R8744:Anapc7	UTSW	5	122,566,211 (GRCm39)	missense	probably benign	0.03
R9634:Anapc7	UTSW	5	122,560,689 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACAGCATCCGAGAAGCAATG -3'
(R):5'- TCTGGACCAGACTAAACTAGTTC -3'

Sequencing Primer
(F):5'- GGTGATGGCCAACAATGTTTAC -3'
(R):5'- CCAAGTGGTGTTAGCTGGTTTAAAC -3'

Posted On

2018-11-06