Mutagenetix > Incidental Mutation

Incidental Mutation 'R8465:Cdc27'

656788

Institutional Source

Beutler Lab

Gene Symbol

Cdc27

Ensembl Gene

ENSMUSG00000020687

Gene Name

cell division cycle 27

Synonyms

APC3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R8465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104502745-104550620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104517491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 531 (S531I)

Ref Sequence

ENSEMBL: ENSMUSP00000091452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093923] [ENSMUST00000106961] [ENSMUST00000106962]

AlphaFold

A2A6Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000093923
AA Change: S531I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: S531I

Domain	Start	End	E-Value	Type
Pfam:Apc3	17	95	2.2e-23	PFAM
TPR	115	148	4.45e-2	SMART
low complexity region	349	362	N/A	INTRINSIC
TPR	500	533	1.33e1	SMART
TPR	568	601	2.91e-6	SMART
TPR	602	635	7.06e-5	SMART
TPR	636	669	3.96e-8	SMART
TPR	670	703	7.45e-4	SMART
TPR	704	737	6.92e1	SMART
TPR	738	771	1.17e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106961

SMART Domains

Protein: ENSMUSP00000102574
Gene: ENSMUSG00000020687

Domain	Start	End	E-Value	Type
Pfam:Apc3	17	95	1.9e-23	PFAM
Pfam:TPR_2	115	148	9.2e-5	PFAM
Pfam:TPR_1	116	148	9.1e-5	PFAM
low complexity region	355	368	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106962
AA Change: S537I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: S537I

Domain	Start	End	E-Value	Type
Pfam:ANAPC3	17	94	7.7e-25	PFAM
TPR	115	148	4.45e-2	SMART
low complexity region	355	368	N/A	INTRINSIC
TPR	506	539	1.33e1	SMART
TPR	574	607	2.91e-6	SMART
TPR	608	641	7.06e-5	SMART
TPR	642	675	3.96e-8	SMART
TPR	676	709	7.45e-4	SMART
TPR	710	743	6.92e1	SMART
TPR	744	777	1.17e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,316,464	L23M	possibly damaging	Het
Acot6	A	T	12: 84,106,441		probably null	Het
Adamtsl3	A	T	7: 82,598,122	N1429Y	probably benign	Het
Adk	T	C	14: 21,103,824	S32P	possibly damaging	Het
Akap13	A	T	7: 75,727,038	M2005L	probably benign	Het
Atp10a	A	T	7: 58,828,310	D1367V	probably benign	Het
Bckdhb	A	G	9: 83,988,862	I142V	probably benign	Het
Brap	C	T	5: 121,679,295	Q322*	probably null	Het
Carmil3	A	T	14: 55,496,848	N401I	probably damaging	Het
Cdan1	A	T	2: 120,728,440	S426T	possibly damaging	Het
Cela3a	A	T	4: 137,403,874	Y184*	probably null	Het
Cep63	T	C	9: 102,613,377	K178R	probably benign	Het
Cfb	G	A	17: 34,857,314	Q152*	probably null	Het
Cnpy2	G	A	10: 128,326,175	V106I	probably benign	Het
Cntn1	GCTGTCTTC	GC	15: 92,339,523		probably null	Het
Ctc1	G	A	11: 69,026,219	G67D	probably damaging	Het
Cwc27	G	T	13: 104,804,264	P196T	probably benign	Het
Cwc27	C	A	13: 104,804,268	L194F	possibly damaging	Het
Cyp2d12	T	G	15: 82,555,177	S11A	possibly damaging	Het
Ddx55	T	A	5: 124,559,121		probably null	Het
Dedd2	G	T	7: 25,218,906	R75S	probably damaging	Het
Fat2	G	A	11: 55,256,704	S3904F	possibly damaging	Het
Fibp	G	A	19: 5,463,187	V177I	probably damaging	Het
Fsip2	A	T	2: 82,979,940	E2201V	probably benign	Het
Gbp11	C	T	5: 105,325,062	D499N	probably benign	Het
Gfm1	A	G	3: 67,431,699	E45G	probably damaging	Het
Gm884	T	A	11: 103,616,121		probably benign	Het
H2-D1	A	G	17: 35,263,511	Y69C	probably damaging	Het
Hcar1	A	G	5: 123,879,046	F194S	probably damaging	Het
Heatr4	A	T	12: 83,977,933		probably null	Het
Kcnd2	G	A	6: 21,216,696	C133Y	probably damaging	Het
Kcnq1	A	T	7: 143,425,974	Q619L	probably benign	Het
Kctd12	T	A	14: 102,981,465	R326W	probably damaging	Het
Kel	A	G	6: 41,689,538		probably null	Het
Lipk	A	T	19: 34,046,797	I332F	probably benign	Het
Masp2	A	G	4: 148,612,059	D371G	possibly damaging	Het
Met	A	G	6: 17,571,810	E1376G	probably benign	Het
Mup5	A	T	4: 61,833,778	I78K	probably benign	Het
Mynn	A	T	3: 30,616,641	D526V	probably damaging	Het
Naip6	G	T	13: 100,296,915	T1138N	possibly damaging	Het
Neurod1	G	T	2: 79,454,352	P229Q	probably damaging	Het
Npepps	T	G	11: 97,248,259	R162S	probably damaging	Het
Ntrk3	T	A	7: 78,462,883	Q175L	probably damaging	Het
Obsl1	T	C	1: 75,503,388	T310A	probably damaging	Het
Olfr1062	A	T	2: 86,423,631	M15K	probably benign	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1288	A	T	2: 111,479,080	T99S	probably benign	Het
Olfr25	A	T	9: 38,330,114	I176F	possibly damaging	Het
Pigf	G	A	17: 86,997,536	T193I	possibly damaging	Het
Pkp4	T	C	2: 59,342,181	V904A	possibly damaging	Het
Plekha6	C	T	1: 133,270,040	T141M	probably damaging	Het
Rapgef6	G	A	11: 54,691,482	D1407N	probably benign	Het
Rhobtb3	T	C	13: 75,939,622	D82G	probably damaging	Het
Rims1	T	C	1: 22,428,480	N767S	possibly damaging	Het
Ripor2	T	A	13: 24,665,468		probably benign	Het
Sec14l4	T	A	11: 4,043,948	I296N	probably damaging	Het
Serpinb12	G	T	1: 106,956,612	V363F	probably damaging	Het
Serpinb9c	A	G	13: 33,150,033	I342T	probably damaging	Het
Shmt2	A	G	10: 127,520,076	V133A	probably damaging	Het
Slc30a6	A	G	17: 74,415,666	M243V	probably benign	Het
Slfn2	T	A	11: 83,069,661	N155K	probably damaging	Het
Syne2	A	T	12: 75,854,124	D19V	possibly damaging	Het
Tcl1b3	A	T	12: 105,194,477	I116L	probably benign	Het
Tcp11	A	G	17: 28,067,792	I411T	probably damaging	Het
Tctn1	C	T	5: 122,241,796	A560T	probably benign	Het
Tenm3	C	A	8: 48,229,181	Q2471H	probably damaging	Het
Tnr	A	G	1: 159,886,075	D691G	probably benign	Het
Ube3b	C	T	5: 114,390,390	P150S	probably damaging	Het
Ugt2b5	T	C	5: 87,139,659	I216M	possibly damaging	Het
Unc5d	T	A	8: 28,666,849	R789S	probably damaging	Het
Ush2a	G	A	1: 188,415,678	G934D	probably damaging	Het
Usp6nl	A	T	2: 6,394,541	R70S	probably damaging	Het
Vmn1r181	T	C	7: 23,984,884	I258T	possibly damaging	Het
Vmn2r15	C	A	5: 109,297,436	D41Y	probably damaging	Het
Vmn2r17	T	A	5: 109,452,825	I663N	probably damaging	Het
Vnn3	C	A	10: 23,865,882	Q362K	possibly damaging	Het
Wdr72	A	G	9: 74,152,448	D380G	possibly damaging	Het
Wfdc10	G	A	2: 164,657,260	E97K	possibly damaging	Het
Xdh	A	T	17: 73,899,012	C1002*	probably null	Het
Zscan4e	A	C	7: 11,307,651	V126G	probably damaging	Het

Other mutations in Cdc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Cdc27	APN	11	104521432	missense	probably benign	0.01
IGL00673:Cdc27	APN	11	104528435	missense	probably damaging	1.00
IGL00949:Cdc27	APN	11	104529403	missense	probably damaging	1.00
IGL01529:Cdc27	APN	11	104507216	missense	probably damaging	1.00
IGL01894:Cdc27	APN	11	104526921	missense	probably benign	0.00
IGL02096:Cdc27	APN	11	104528568	splice site	probably benign
IGL02124:Cdc27	APN	11	104522731	missense	probably damaging	0.99
IGL02444:Cdc27	APN	11	104522716	splice site	probably benign
IGL02589:Cdc27	APN	11	104505644	missense	probably benign	0.04
IGL02851:Cdc27	APN	11	104526981	splice site	probably benign
IGL02861:Cdc27	APN	11	104522831	splice site	probably benign
IGL02952:Cdc27	APN	11	104517464	missense	probably damaging	1.00
IGL03103:Cdc27	APN	11	104512980	missense	probably benign	0.21
R0344:Cdc27	UTSW	11	104526991	splice site	probably benign
R0365:Cdc27	UTSW	11	104528424	missense	possibly damaging	0.68
R0366:Cdc27	UTSW	11	104505648	missense	probably damaging	0.99
R0426:Cdc27	UTSW	11	104513027	splice site	probably null
R0505:Cdc27	UTSW	11	104528288	missense	probably benign
R0639:Cdc27	UTSW	11	104531734	missense	probably damaging	1.00
R0925:Cdc27	UTSW	11	104526049	critical splice donor site	probably null
R0927:Cdc27	UTSW	11	104505641	missense	possibly damaging	0.88
R1414:Cdc27	UTSW	11	104521425	missense	probably benign	0.26
R1765:Cdc27	UTSW	11	104534781	missense	probably damaging	1.00
R1822:Cdc27	UTSW	11	104522822	missense	probably benign	0.16
R2449:Cdc27	UTSW	11	104505638	missense	probably benign	0.03
R3404:Cdc27	UTSW	11	104507200	missense	probably damaging	1.00
R3405:Cdc27	UTSW	11	104507200	missense	probably damaging	1.00
R3406:Cdc27	UTSW	11	104507200	missense	probably damaging	1.00
R3776:Cdc27	UTSW	11	104515437	missense	probably damaging	1.00
R4037:Cdc27	UTSW	11	104507207	missense	probably damaging	1.00
R4385:Cdc27	UTSW	11	104534814	missense	probably benign	0.10
R4451:Cdc27	UTSW	11	104517395	missense	probably benign	0.05
R4452:Cdc27	UTSW	11	104517395	missense	probably benign	0.05
R4530:Cdc27	UTSW	11	104528426	missense	possibly damaging	0.68
R4956:Cdc27	UTSW	11	104529395	missense	probably damaging	0.99
R4988:Cdc27	UTSW	11	104526124	missense	possibly damaging	0.95
R5098:Cdc27	UTSW	11	104507287	missense	probably damaging	1.00
R5130:Cdc27	UTSW	11	104534774	missense	probably benign	0.07
R5384:Cdc27	UTSW	11	104507140	missense	probably benign	0.02
R5876:Cdc27	UTSW	11	104515418	missense	probably benign	0.30
R6238:Cdc27	UTSW	11	104528444	missense	probably damaging	1.00
R6318:Cdc27	UTSW	11	104528694	missense	probably damaging	1.00
R6354:Cdc27	UTSW	11	104534748	missense	probably damaging	1.00
R6467:Cdc27	UTSW	11	104522776	missense	probably damaging	1.00
R6485:Cdc27	UTSW	11	104505648	missense	probably benign	0.15
R7237:Cdc27	UTSW	11	104517419	missense	probably benign
R7315:Cdc27	UTSW	11	104515444	missense	possibly damaging	0.95
R7534:Cdc27	UTSW	11	104508414	missense	probably damaging	1.00
R7838:Cdc27	UTSW	11	104513004	missense	probably damaging	0.98
R8150:Cdc27	UTSW	11	104515460	missense	probably damaging	1.00
R8935:Cdc27	UTSW	11	104507200	missense	probably damaging	1.00
R8978:Cdc27	UTSW	11	104508385	missense	possibly damaging	0.95
R9336:Cdc27	UTSW	11	104505670	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGACTAGATTTGTTCTGATGATC -3'
(R):5'- TGATTGCCTCCGTATTTGAAATCTC -3'

Sequencing Primer
(F):5'- AGGATTATGTGCCTAGCATACCC -3'
(R):5'- GCCTCCGTATTTGAAATCTCACAACG -3'

Posted On

2021-01-18