Mutagenetix > Incidental Mutation

Incidental Mutation 'R0426:Cdc27'

38668

Institutional Source

Beutler Lab

Gene Symbol

Cdc27

Ensembl Gene

ENSMUSG00000020687

Gene Name

cell division cycle 27

Synonyms

APC3

MMRRC Submission

038628-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104393571-104441446 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 104403853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102575 (fasta)

Gene Model

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

AlphaFold

A2A6Q5

Predicted Effect

probably null
Transcript: ENSMUST00000093923

SMART Domains

Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687

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 null
Transcript: ENSMUST00000093923

SMART Domains

Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687

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 null
Transcript: ENSMUST00000106962

SMART Domains

Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687

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

Predicted Effect

probably null
Transcript: ENSMUST00000106962

SMART Domains

Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127506

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,845,853 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,880,805 (GRCm39)	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,530,030 (GRCm39)	D222G	probably benign	Het
Anapc15	A	G	7: 101,547,240 (GRCm39)	T39A	probably benign	Het
Ano3	A	T	2: 110,491,519 (GRCm39)	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,882,286 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,003,658 (GRCm39)	I1091N	probably benign	Het
Atf1	A	T	15: 100,130,708 (GRCm39)	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,434,482 (GRCm39)	M252T	probably benign	Het
Btbd8	C	T	5: 107,658,239 (GRCm39)	T1603I	probably damaging	Het
Cd55	C	T	1: 130,376,109 (GRCm39)	R347H	probably benign	Het
Cdh9	G	A	15: 16,823,540 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,726,969 (GRCm39)		probably benign	Het
Cep70	A	G	9: 99,179,737 (GRCm39)	D567G	probably benign	Het
Cep78	A	T	19: 15,948,334 (GRCm39)	Y382*	probably null	Het
Cgas	G	A	9: 78,343,020 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,901,857 (GRCm39)		probably benign	Het
Cyp2d12	G	A	15: 82,443,164 (GRCm39)	D409N	probably benign	Het
Ddx39a	A	G	8: 84,448,398 (GRCm39)	T217A	probably benign	Het
Dennd1b	T	A	1: 139,097,934 (GRCm39)	D733E	probably benign	Het
Dicer1	A	G	12: 104,668,801 (GRCm39)	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,542,795 (GRCm39)	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,840,875 (GRCm39)		probably benign	Het
Dysf	T	C	6: 84,126,739 (GRCm39)	L1332P	probably damaging	Het
F5	A	G	1: 164,010,409 (GRCm39)	D380G	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Fhip1b	A	C	7: 105,038,680 (GRCm39)	C186W	probably damaging	Het
Galr2	C	A	11: 116,172,517 (GRCm39)	A69D	probably damaging	Het
Grk2	T	C	19: 4,340,628 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,262,188 (GRCm39)	Y1119*	probably null	Het
Hgd	A	T	16: 37,409,047 (GRCm39)		probably benign	Het
Ildr2	G	T	1: 166,136,468 (GRCm39)	V436L	probably benign	Het
Intu	G	A	3: 40,629,735 (GRCm39)	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,929,870 (GRCm39)	P268T	probably benign	Het
Jarid2	T	C	13: 44,994,358 (GRCm39)		probably null	Het
Jup	A	T	11: 100,263,227 (GRCm39)	M716K	probably benign	Het
Kank1	G	A	19: 25,388,837 (GRCm39)	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,217,720 (GRCm39)		probably benign	Het
Kdm3a	C	T	6: 71,577,739 (GRCm39)	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437 (GRCm39)		probably benign	Het
Kifap3	T	A	1: 163,693,121 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,377,453 (GRCm39)	K1400*	probably null	Het
Majin	A	G	19: 6,262,147 (GRCm39)		probably benign	Het
Mctp1	A	G	13: 77,168,940 (GRCm39)	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,113,875 (GRCm39)	I286F	possibly damaging	Het
Neil3	T	G	8: 54,062,431 (GRCm39)		probably benign	Het
Nox3	G	T	17: 3,745,838 (GRCm39)	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,860,797 (GRCm39)	K219E	probably benign	Het
Or1e29	T	A	11: 73,667,263 (GRCm39)	M297L	probably benign	Het
Or52b4i	T	A	7: 102,191,893 (GRCm39)	I250N	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6b13	A	C	7: 139,782,029 (GRCm39)	F218C	possibly damaging	Het
Or6d13	A	T	6: 116,517,446 (GRCm39)	N11Y	probably damaging	Het
Or8g34	T	C	9: 39,372,889 (GRCm39)	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,263,996 (GRCm39)	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,475,857 (GRCm39)	E331V	probably damaging	Het
Pcid2	A	C	8: 13,131,262 (GRCm39)		probably null	Het
Pcsk9	T	C	4: 106,307,274 (GRCm39)	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801 (GRCm38)	E203G	probably damaging	Het
Phlpp2	A	G	8: 110,655,095 (GRCm39)	Y630C	probably benign	Het
Pidd1	C	T	7: 141,019,046 (GRCm39)	A812T	probably damaging	Het
Plau	G	A	14: 20,892,382 (GRCm39)	R389H	probably benign	Het
Plekhg6	G	A	6: 125,341,592 (GRCm39)		probably null	Het
Ppox	T	C	1: 171,105,322 (GRCm39)	Y321C	probably damaging	Het
Pxdn	A	G	12: 30,037,065 (GRCm39)	N281S	possibly damaging	Het
Pycr3	A	T	15: 75,790,237 (GRCm39)	M138K	probably benign	Het
Radil	T	C	5: 142,483,628 (GRCm39)	Y526C	probably damaging	Het
Ranbp3	C	A	17: 57,014,169 (GRCm39)	D233E	probably benign	Het
Rhpn1	A	G	15: 75,583,721 (GRCm39)	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,410,532 (GRCm39)		probably benign	Het
Sel1l2	A	T	2: 140,082,832 (GRCm39)	L602*	probably null	Het
Sema5b	G	A	16: 35,466,725 (GRCm39)	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333 (GRCm39)	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,338,312 (GRCm39)		probably benign	Het
Synj1	G	T	16: 90,764,242 (GRCm39)	A65E	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tecrl	T	C	5: 83,502,610 (GRCm39)		probably benign	Het
Tenm4	G	T	7: 96,427,058 (GRCm39)	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,181 (GRCm39)	L259F	probably damaging	Het
Tmem247	G	A	17: 87,225,931 (GRCm39)	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,830,221 (GRCm39)	A218E	probably damaging	Het
Tppp	T	A	13: 74,169,430 (GRCm39)	F57I	probably damaging	Het
Trim36	A	G	18: 46,305,592 (GRCm39)	W452R	probably damaging	Het
Vars2	A	T	17: 35,975,476 (GRCm39)	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Zfp516	G	T	18: 82,973,897 (GRCm39)	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348 (GRCm39)	L429I	possibly damaging	Het

Other mutations in Cdc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Cdc27	APN	11	104,412,258 (GRCm39)	missense	probably benign	0.01
IGL00673:Cdc27	APN	11	104,419,261 (GRCm39)	missense	probably damaging	1.00
IGL00949:Cdc27	APN	11	104,420,229 (GRCm39)	missense	probably damaging	1.00
IGL01529:Cdc27	APN	11	104,398,042 (GRCm39)	missense	probably damaging	1.00
IGL01894:Cdc27	APN	11	104,417,747 (GRCm39)	missense	probably benign	0.00
IGL02096:Cdc27	APN	11	104,419,394 (GRCm39)	splice site	probably benign
IGL02124:Cdc27	APN	11	104,413,557 (GRCm39)	missense	probably damaging	0.99
IGL02444:Cdc27	APN	11	104,413,542 (GRCm39)	splice site	probably benign
IGL02589:Cdc27	APN	11	104,396,470 (GRCm39)	missense	probably benign	0.04
IGL02851:Cdc27	APN	11	104,417,807 (GRCm39)	splice site	probably benign
IGL02861:Cdc27	APN	11	104,413,657 (GRCm39)	splice site	probably benign
IGL02952:Cdc27	APN	11	104,408,290 (GRCm39)	missense	probably damaging	1.00
IGL03103:Cdc27	APN	11	104,403,806 (GRCm39)	missense	probably benign	0.21
R0344:Cdc27	UTSW	11	104,417,817 (GRCm39)	splice site	probably benign
R0365:Cdc27	UTSW	11	104,419,250 (GRCm39)	missense	possibly damaging	0.68
R0366:Cdc27	UTSW	11	104,396,474 (GRCm39)	missense	probably damaging	0.99
R0505:Cdc27	UTSW	11	104,419,114 (GRCm39)	missense	probably benign
R0639:Cdc27	UTSW	11	104,422,560 (GRCm39)	missense	probably damaging	1.00
R0925:Cdc27	UTSW	11	104,416,875 (GRCm39)	critical splice donor site	probably null
R0927:Cdc27	UTSW	11	104,396,467 (GRCm39)	missense	possibly damaging	0.88
R1414:Cdc27	UTSW	11	104,412,251 (GRCm39)	missense	probably benign	0.26
R1765:Cdc27	UTSW	11	104,425,607 (GRCm39)	missense	probably damaging	1.00
R1822:Cdc27	UTSW	11	104,413,648 (GRCm39)	missense	probably benign	0.16
R2449:Cdc27	UTSW	11	104,396,464 (GRCm39)	missense	probably benign	0.03
R3404:Cdc27	UTSW	11	104,398,026 (GRCm39)	missense	probably damaging	1.00
R3405:Cdc27	UTSW	11	104,398,026 (GRCm39)	missense	probably damaging	1.00
R3406:Cdc27	UTSW	11	104,398,026 (GRCm39)	missense	probably damaging	1.00
R3776:Cdc27	UTSW	11	104,406,263 (GRCm39)	missense	probably damaging	1.00
R4037:Cdc27	UTSW	11	104,398,033 (GRCm39)	missense	probably damaging	1.00
R4385:Cdc27	UTSW	11	104,425,640 (GRCm39)	missense	probably benign	0.10
R4451:Cdc27	UTSW	11	104,408,221 (GRCm39)	missense	probably benign	0.05
R4452:Cdc27	UTSW	11	104,408,221 (GRCm39)	missense	probably benign	0.05
R4530:Cdc27	UTSW	11	104,419,252 (GRCm39)	missense	possibly damaging	0.68
R4956:Cdc27	UTSW	11	104,420,221 (GRCm39)	missense	probably damaging	0.99
R4988:Cdc27	UTSW	11	104,416,950 (GRCm39)	missense	possibly damaging	0.95
R5098:Cdc27	UTSW	11	104,398,113 (GRCm39)	missense	probably damaging	1.00
R5130:Cdc27	UTSW	11	104,425,600 (GRCm39)	missense	probably benign	0.07
R5384:Cdc27	UTSW	11	104,397,966 (GRCm39)	missense	probably benign	0.02
R5876:Cdc27	UTSW	11	104,406,244 (GRCm39)	missense	probably benign	0.30
R6238:Cdc27	UTSW	11	104,419,270 (GRCm39)	missense	probably damaging	1.00
R6318:Cdc27	UTSW	11	104,419,520 (GRCm39)	missense	probably damaging	1.00
R6354:Cdc27	UTSW	11	104,425,574 (GRCm39)	missense	probably damaging	1.00
R6467:Cdc27	UTSW	11	104,413,602 (GRCm39)	missense	probably damaging	1.00
R6485:Cdc27	UTSW	11	104,396,474 (GRCm39)	missense	probably benign	0.15
R7237:Cdc27	UTSW	11	104,408,245 (GRCm39)	missense	probably benign
R7315:Cdc27	UTSW	11	104,406,270 (GRCm39)	missense	possibly damaging	0.95
R7534:Cdc27	UTSW	11	104,399,240 (GRCm39)	missense	probably damaging	1.00
R7838:Cdc27	UTSW	11	104,403,830 (GRCm39)	missense	probably damaging	0.98
R8150:Cdc27	UTSW	11	104,406,286 (GRCm39)	missense	probably damaging	1.00
R8465:Cdc27	UTSW	11	104,408,317 (GRCm39)	missense	probably benign	0.06
R8935:Cdc27	UTSW	11	104,398,026 (GRCm39)	missense	probably damaging	1.00
R8978:Cdc27	UTSW	11	104,399,211 (GRCm39)	missense	possibly damaging	0.95
R9336:Cdc27	UTSW	11	104,396,496 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCTCTGGCTAAGCTGCAAAG -3'
(R):5'- TGCAGGAATTGGCTGTTCTGTCTAC -3'

Sequencing Primer
(F):5'- GCTAAGCTGCAAAGACTCTTG -3'
(R):5'- CTACATTAGAGTGGTGAGTTTCAAG -3'

Posted On

2013-05-23