Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Cdc27'

567902

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: 0.967) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104502745-104550620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104515444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 615 (T615I)

Ref Sequence

ENSEMBL: ENSMUSP00000091452 (fasta)

Gene Model

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

AlphaFold

A2A6Q5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093923
AA Change: T615I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: T615I

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: T621I

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: T621I

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205		probably null	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Steap3	A	G	1: 120,227,912	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	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
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
R8465:Cdc27	UTSW	11	104517491	missense	probably benign	0.06
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'- ATGTGTGTTGTGGCCCACAG -3'
(R):5'- ATGCACCACACAGTTTCTTAGGTC -3'

Sequencing Primer
(F):5'- TTGTGGCCCACAGAGCCTATAC -3'
(R):5'- GGGCATAAAAAGTTTGAACTGATTG -3'

Posted On

2019-06-26