Mutagenetix > Incidental Mutation

Incidental Mutation 'R0639:Cdc27'

56941

Institutional Source

Beutler Lab

Gene Symbol

Cdc27

Ensembl Gene

ENSMUSG00000020687

Gene Name

cell division cycle 27

Synonyms

APC3

MMRRC Submission

038828-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0639 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

104393571-104441446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104422560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 125 (Y125H)

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: Y125H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: Y125H

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: Y125H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102574
Gene: ENSMUSG00000020687
AA Change: Y125H

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: Y125H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: Y125H

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

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 46,043,999 (GRCm39)	W86*	probably null	Het
Acadl	T	C	1: 66,896,567 (GRCm39)	H75R	probably benign	Het
Adamtsl1	T	C	4: 86,195,380 (GRCm39)	F599S	probably damaging	Het
Adrb3	T	C	8: 27,718,293 (GRCm39)	N52S	probably damaging	Het
Agbl3	T	A	6: 34,776,640 (GRCm39)	L377Q	probably damaging	Het
Akap9	T	C	5: 4,110,318 (GRCm39)	L3007P	probably damaging	Het
Amer3	T	A	1: 34,626,902 (GRCm39)	Y380*	probably null	Het
Ankrd13d	A	T	19: 4,323,047 (GRCm39)		probably null	Het
Ap4m1	T	A	5: 138,174,501 (GRCm39)	C235S	probably benign	Het
Arhgap29	T	C	3: 121,801,290 (GRCm39)	F675S	probably damaging	Het
Asah2	C	A	19: 31,986,039 (GRCm39)	V544F	probably damaging	Het
Ash2l	A	G	8: 26,313,319 (GRCm39)	I389T	possibly damaging	Het
Bend5	T	C	4: 111,290,495 (GRCm39)	S164P	probably benign	Het
Cacna1d	A	G	14: 29,893,251 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,039,182 (GRCm39)	N516D	probably benign	Het
Cdk5r2	C	T	1: 74,894,995 (GRCm39)	L247F	probably damaging	Het
Cenpf	C	A	1: 189,390,259 (GRCm39)	G1191V	probably benign	Het
Cops4	C	T	5: 100,685,326 (GRCm39)	T293I	possibly damaging	Het
Csmd3	A	G	15: 47,777,336 (GRCm39)	L1294P	probably damaging	Het
Dclre1a	T	C	19: 56,526,872 (GRCm39)	Y848C	probably damaging	Het
Disp2	A	T	2: 118,621,325 (GRCm39)	I686F	possibly damaging	Het
Dnah6	T	A	6: 72,999,395 (GRCm39)	Y4012F	probably benign	Het
Dnajc11	C	G	4: 152,054,393 (GRCm39)	R200G	probably damaging	Het
Dnhd1	A	T	7: 105,345,671 (GRCm39)	D2272V	possibly damaging	Het
Elane	A	C	10: 79,722,183 (GRCm39)	R5S	possibly damaging	Het
Entpd7	G	A	19: 43,679,533 (GRCm39)	V29M	probably benign	Het
Fanca	A	G	8: 124,016,098 (GRCm39)		probably null	Het
Fgl1	G	T	8: 41,644,661 (GRCm39)	T281K	probably benign	Het
Flii	T	C	11: 60,613,823 (GRCm39)		probably null	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Fzd7	T	A	1: 59,523,719 (GRCm39)	M534K	probably damaging	Het
Galnt5	A	G	2: 57,889,407 (GRCm39)	T336A	probably benign	Het
Gli3	G	A	13: 15,899,300 (GRCm39)	D896N	probably damaging	Het
Gsx1	G	T	5: 147,126,756 (GRCm39)	W193L	probably damaging	Het
Gtpbp3	A	T	8: 71,945,379 (GRCm39)	I485F	probably damaging	Het
H2-M11	A	G	17: 36,858,283 (GRCm39)	T26A	probably benign	Het
Igfbp7	T	C	5: 77,499,827 (GRCm39)	D243G	probably damaging	Het
Il31ra	A	T	13: 112,662,377 (GRCm39)	D477E	possibly damaging	Het
Inmt	A	C	6: 55,148,212 (GRCm39)	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,451,147 (GRCm39)	M501L	probably benign	Het
Itsn2	T	C	12: 4,762,556 (GRCm39)	F1579L	probably damaging	Het
Kat2b	C	A	17: 53,874,566 (GRCm39)	A70E	probably benign	Het
Klhl20	T	C	1: 160,921,281 (GRCm39)	E58G	probably damaging	Het
Krt79	A	T	15: 101,839,983 (GRCm39)	Y337*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Letm1	T	C	5: 33,926,770 (GRCm39)	I176V	possibly damaging	Het
Lingo3	C	A	10: 80,671,618 (GRCm39)	R104L	probably benign	Het
Lrig3	T	G	10: 125,846,090 (GRCm39)	C840G	probably damaging	Het
Lrrc9	A	G	12: 72,533,062 (GRCm39)	N977S	probably damaging	Het
Lrrk2	T	A	15: 91,657,199 (GRCm39)	M1831K	probably benign	Het
Mn1	A	T	5: 111,567,182 (GRCm39)	D384V	probably damaging	Het
Morc3	C	A	16: 93,650,738 (GRCm39)	H319Q	probably damaging	Het
Morn1	T	C	4: 155,173,960 (GRCm39)	F56L	possibly damaging	Het
Mrpl53	G	T	6: 83,086,392 (GRCm39)	V64L	probably damaging	Het
Myo15a	T	A	11: 60,370,162 (GRCm39)	V974D	probably benign	Het
Neb	A	G	2: 52,146,136 (GRCm39)	V2947A	possibly damaging	Het
Nfasc	A	C	1: 132,531,554 (GRCm39)	N737K	probably damaging	Het
Nlk	T	C	11: 78,463,103 (GRCm39)	D464G	possibly damaging	Het
Nlrc4	C	T	17: 74,733,958 (GRCm39)	R985K	probably benign	Het
Nsun6	T	C	2: 15,001,147 (GRCm39)	K470E	probably benign	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Or8b39	G	A	9: 37,996,666 (GRCm39)	C178Y	probably damaging	Het
Otop1	T	C	5: 38,445,292 (GRCm39)	V150A	possibly damaging	Het
Pclo	C	T	5: 14,731,763 (GRCm39)	R296*	probably null	Het
Pdzd2	A	T	15: 12,458,144 (GRCm39)	C240S	possibly damaging	Het
Plekhg5	A	G	4: 152,198,577 (GRCm39)	T922A	probably benign	Het
Plekhm2	A	C	4: 141,369,381 (GRCm39)	L101R	probably damaging	Het
Plscr3	T	A	11: 69,738,820 (GRCm39)	C161S	probably benign	Het
Prr14l	C	T	5: 32,986,259 (GRCm39)	D1079N	probably benign	Het
Ptpru	A	T	4: 131,498,490 (GRCm39)	V1377E	possibly damaging	Het
Rab37	C	A	11: 115,049,528 (GRCm39)	D112E	probably benign	Het
Raet1e	T	A	10: 22,050,274 (GRCm39)	I19N	probably damaging	Het
Rassf5	T	C	1: 131,172,803 (GRCm39)	Y22C	probably damaging	Het
Rp1	T	C	1: 4,416,721 (GRCm39)	T1464A	probably benign	Het
Safb	T	A	17: 56,908,092 (GRCm39)		probably benign	Het
Scarf2	A	G	16: 17,624,369 (GRCm39)		probably null	Het
Scart2	A	G	7: 139,827,872 (GRCm39)	N27D	probably benign	Het
Sh3d19	T	C	3: 86,014,280 (GRCm39)	S415P	probably benign	Het
Slc26a9	T	A	1: 131,691,542 (GRCm39)	L595Q	probably damaging	Het
Slc4a8	T	C	15: 100,694,431 (GRCm39)	Y470H	probably damaging	Het
Slitrk3	T	C	3: 72,956,982 (GRCm39)	N597D	probably benign	Het
Spata31	T	A	13: 65,070,027 (GRCm39)	V725E	probably benign	Het
Spink12	T	A	18: 44,240,831 (GRCm39)	C72*	probably null	Het
Spink5	T	A	18: 44,146,042 (GRCm39)		probably null	Het
Stk40	C	A	4: 126,012,125 (GRCm39)	S9*	probably null	Het
Sypl1	A	T	12: 33,015,420 (GRCm39)	T40S	probably damaging	Het
Tbc1d8	C	T	1: 39,430,290 (GRCm39)	E438K	probably benign	Het
Tdrd7	A	G	4: 45,989,102 (GRCm39)	T111A	probably benign	Het
Tg	A	T	15: 66,613,333 (GRCm39)		probably null	Het
Tlr5	T	A	1: 182,801,454 (GRCm39)	W253R	probably damaging	Het
Tmprss11c	C	T	5: 86,383,328 (GRCm39)	C353Y	probably damaging	Het
Tnfrsf8	T	A	4: 145,014,597 (GRCm39)	M271L	probably benign	Het
Toe1	T	C	4: 116,663,947 (GRCm39)	N21S	probably benign	Het
Tpp2	T	C	1: 44,014,607 (GRCm39)	F649L	probably benign	Het
Ttll1	G	A	15: 83,386,426 (GRCm39)	Q60*	probably null	Het
Vcp	C	T	4: 42,982,565 (GRCm39)	R709Q	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn1r195	C	A	13: 22,463,111 (GRCm39)	Q194K	probably damaging	Het
Vmn1r33	T	C	6: 66,588,783 (GRCm39)	Y257C	probably damaging	Het
Vmn2r15	A	G	5: 109,440,881 (GRCm39)	F326L	probably benign	Het
Wbp11	A	T	6: 136,793,108 (GRCm39)		probably benign	Het
Wwp2	T	G	8: 108,244,578 (GRCm39)	V250G	probably benign	Het
Xpnpep3	T	C	15: 81,315,038 (GRCm39)	V246A	probably benign	Het
Zcchc14	G	A	8: 122,332,188 (GRCm39)	R419*	probably null	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
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'- CGGGTAAAATGGGATCAGCATCCTT -3'
(R):5'- CCTCAGTGTAAAAagtctggtgtggtaa -3'

Sequencing Primer
(F):5'- GGGATCAGCATCCTTACTATTTAAC -3'
(R):5'- caccagaagagggcatcag -3'

Posted On

2013-07-11