Mutagenetix > Incidental Mutation

Incidental Mutation 'R2449:Cdc27'

248947

Institutional Source

Beutler Lab

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 #

R2449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104393571-104441446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104396464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 819 (D819G)

Ref Sequence

ENSEMBL: ENSMUSP00000102575 (fasta)

Gene Model

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

AlphaFold

A2A6Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000093923
AA Change: D813G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: D813G

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: ENSMUST00000106962
AA Change: D819G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: D819G

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Cd83	A	T	13: 43,951,132 (GRCm39)	T95S	probably damaging	Het
Hey2	A	T	10: 30,716,442 (GRCm39)	I64K	possibly damaging	Het
Il10rb	A	G	16: 91,208,791 (GRCm39)	H67R	probably benign	Het
Itgav	T	A	2: 83,599,094 (GRCm39)		probably null	Het
Lhx1	G	A	11: 84,412,564 (GRCm39)	R119C	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or12j2	A	T	7: 139,916,345 (GRCm39)	Q190L	probably benign	Het
Siglec1	T	C	2: 130,920,645 (GRCm39)	T720A	probably benign	Het
Sycp1	T	C	3: 102,832,522 (GRCm39)	I215V	probably benign	Het
Trim63	A	G	4: 134,050,418 (GRCm39)	E234G	probably damaging	Het
Vmn2r56	C	T	7: 12,428,082 (GRCm39)	S728N	possibly damaging	Het
Wdr64	A	T	1: 175,526,479 (GRCm39)	I43L	probably benign	Het
Wsb1	T	C	11: 79,131,178 (GRCm39)	K406R	probably benign	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
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
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'- AAGTATCGCACTGCCTTCCAT -3'
(R):5'- GGGGAATGAACTTGAAATGCTT -3'

Sequencing Primer
(F):5'- CATTCTGTGTACAGTCAGGGTCC -3'
(R):5'- GGGTCTCATCTCTGAATGTA -3'

Posted On

2014-11-12