Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00673:Cdc27'

9520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc27

Ensembl Gene

ENSMUSG00000020687

Gene Name

cell division cycle 27

Synonyms

APC3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL00673

Quality Score

Status

Chromosome

Chromosomal Location

104393571-104441446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104419261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 224 (Y224H)

Ref Sequence

ENSEMBL: ENSMUSP00000102574 (fasta)

Gene Model

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

AlphaFold

A2A6Q5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093923
AA Change: Y224H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: Y224H

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 damaging
Transcript: ENSMUST00000106961
AA Change: Y224H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102574
Gene: ENSMUSG00000020687
AA Change: Y224H

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 damaging
Transcript: ENSMUST00000106962
AA Change: Y224H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: Y224H

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: ENSMUST00000135303

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,075,714 (GRCm39)	S1191P	possibly damaging	Het
Alg2	C	T	4: 47,472,329 (GRCm39)	D160N	probably damaging	Het
Cd177	A	T	7: 24,451,442 (GRCm39)	F487Y	possibly damaging	Het
Cdhr1	A	G	14: 36,807,485 (GRCm39)	V385A	probably benign	Het
Cep128	G	T	12: 91,200,965 (GRCm39)	H31Q	probably benign	Het
Ehd4	A	G	2: 119,932,701 (GRCm39)	S242P	probably damaging	Het
Esco1	A	G	18: 10,582,078 (GRCm39)	F647L	probably damaging	Het
Itgbl1	C	T	14: 124,083,844 (GRCm39)		probably benign	Het
Kcnj3	G	T	2: 55,485,284 (GRCm39)	D461Y	possibly damaging	Het
Kcnq3	G	A	15: 65,867,120 (GRCm39)	T841M	probably damaging	Het
Kcnt2	T	G	1: 140,523,789 (GRCm39)	N1103K	possibly damaging	Het
Mib1	A	G	18: 10,798,490 (GRCm39)	S784G	probably benign	Het
Miga2	T	G	2: 30,257,729 (GRCm39)	M9R	probably benign	Het
Pals1	C	A	12: 78,876,573 (GRCm39)	R506S	possibly damaging	Het
Prl2a1	T	C	13: 27,992,436 (GRCm39)	S187P	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Ptdss2	G	T	7: 140,723,038 (GRCm39)	C84F	probably benign	Het
Recql	T	A	6: 142,322,647 (GRCm39)	N85I	probably null	Het
Tex47	A	T	5: 7,355,211 (GRCm39)	I131F	probably damaging	Het
Tlk1	G	T	2: 70,575,860 (GRCm39)	Q323K	probably 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
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
R0426:Cdc27	UTSW	11	104,403,853 (GRCm39)	splice site	probably null
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

Posted On

2012-12-06