Mutagenetix > Incidental Mutation

Incidental Mutation 'R9634:Anapc7'

725708

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9634 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122559756-122582975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122560689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 17 (S17P)

Ref Sequence

ENSEMBL: ENSMUSP00000031422 (fasta)

Gene Model

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

AlphaFold

Q9WVM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031422
AA Change: S17P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031422
Gene: ENSMUSG00000029466
AA Change: S17P

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 damaging
Transcript: ENSMUST00000119792
AA Change: S17P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112658
Gene: ENSMUSG00000029466
AA Change: S17P

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 damaging
Transcript: ENSMUST00000122010
AA Change: S17P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113928
Gene: ENSMUSG00000029466
AA Change: S17P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,184,816 (GRCm39)	D1277E	probably benign	Het
Atad2b	T	C	12: 5,060,332 (GRCm39)	F909S	probably damaging	Het
Ccnb1	G	A	13: 100,920,112 (GRCm39)	A133V	probably benign	Het
Chd7	A	G	4: 8,832,499 (GRCm39)	T1125A	probably damaging	Het
Cyc1	A	G	15: 76,227,794 (GRCm39)	T11A	probably benign	Het
Ddx59	G	A	1: 136,347,214 (GRCm39)	A291T	probably damaging	Het
Dgkg	T	A	16: 22,338,387 (GRCm39)		probably null	Het
Dock8	A	G	19: 25,169,585 (GRCm39)	D1952G	probably damaging	Het
Dpf3	A	G	12: 83,378,635 (GRCm39)		probably null	Het
Evi5	T	C	5: 107,964,663 (GRCm39)	I340V	probably benign	Het
Extl3	A	T	14: 65,314,919 (GRCm39)	S88T	probably damaging	Het
Fktn	A	G	4: 53,761,230 (GRCm39)	H410R	probably benign	Het
Fyb2	A	T	4: 104,856,579 (GRCm39)	K596*	probably null	Het
Gas2l3	C	T	10: 89,249,943 (GRCm39)	A392T	probably benign	Het
Gbp7	T	A	3: 142,242,115 (GRCm39)	V83E	probably benign	Het
Gja10	A	G	4: 32,601,877 (GRCm39)	V169A	probably damaging	Het
Gnao1	A	G	8: 94,682,723 (GRCm39)	H303R	probably benign	Het
Iars2	A	G	1: 185,027,727 (GRCm39)	*734R	probably null	Het
Il2ra	C	T	2: 11,685,227 (GRCm39)	R188*	probably null	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Ints3	T	C	3: 90,318,606 (GRCm39)	T210A		Het
Itpkc	A	G	7: 26,913,880 (GRCm39)	I527T	probably benign	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Loxl3	C	T	6: 83,027,835 (GRCm39)	T749I	probably benign	Het
Lrp1b	C	T	2: 41,135,951 (GRCm39)		probably null	Het
Ncapg2	T	A	12: 116,379,077 (GRCm39)	H190Q	probably damaging	Het
Nkain2	G	A	10: 32,766,262 (GRCm39)	P66L	unknown	Het
Nubpl	T	C	12: 52,349,494 (GRCm39)	F242L	probably benign	Het
Or4f4-ps1	T	C	2: 111,330,131 (GRCm39)	V178A	possibly damaging	Het
Or4x11	T	C	2: 89,867,907 (GRCm39)	S215P	probably damaging	Het
Or8b51	A	G	9: 38,568,869 (GRCm39)	I273T	probably benign	Het
Paip2b	T	C	6: 83,787,023 (GRCm39)	D71G	probably damaging	Het
Plch1	T	C	3: 63,605,152 (GRCm39)	E1584G	probably damaging	Het
Poglut2	T	C	1: 44,152,196 (GRCm39)	D271G	probably damaging	Het
Prkag2	A	G	5: 25,074,238 (GRCm39)	I489T	possibly damaging	Het
Ptpn2	C	T	18: 67,808,789 (GRCm39)		probably null	Het
Rims3	G	A	4: 120,748,517 (GRCm39)	R246H	possibly damaging	Het
Sorl1	T	G	9: 41,907,590 (GRCm39)	T1466P	probably benign	Het
Tbl3	T	C	17: 24,926,531 (GRCm39)	E3G	probably benign	Het
Tex2	A	G	11: 106,458,978 (GRCm39)	S151P	unknown	Het
Tmem260	C	A	14: 48,709,816 (GRCm39)	A123E	probably damaging	Het
Trim45	T	C	3: 100,839,306 (GRCm39)	V736A	unknown	Het
Vps8	T	C	16: 21,372,893 (GRCm39)	L1033P	probably damaging	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Wwc2	GCC	GCCC	8: 48,304,959 (GRCm39)		probably null	Het
Ythdc2	A	G	18: 45,006,037 (GRCm39)	T1177A	probably benign	Het
Zfp36l2	A	G	17: 84,494,056 (GRCm39)	Y194H	probably damaging	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
R6911:Anapc7	UTSW	5	122,578,343 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- AGAAAACCCTTTCGCCGCTG -3'
(R):5'- GACTTCGTCGTTCTGGAAGGAG -3'

Sequencing Primer
(F):5'- TTTACTCAGGCACGTCCGTGG -3'
(R):5'- AGCCAGAACTCCGAGGC -3'

Posted On

2022-09-12