Mutagenetix > Incidental Mutation

Incidental Mutation 'R4723:Cdc6'

397165

Institutional Source

Beutler Lab

Gene Symbol

Cdc6

Ensembl Gene

ENSMUSG00000017499

Gene Name

cell division cycle 6

Synonyms

CDC18(S.pombe), CDC18L, cell division cycle 18 homolog (S.pombe)-like

MMRRC Submission

041959-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98798627-98814766 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 98799657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037480] [ENSMUST00000092706] [ENSMUST00000092706] [ENSMUST00000093937] [ENSMUST00000093937] [ENSMUST00000133779] [ENSMUST00000133779]

AlphaFold

O89033

Predicted Effect

probably benign
Transcript: ENSMUST00000037480

SMART Domains

Protein: ENSMUSP00000046991
Gene: ENSMUSG00000038013

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
WH2	36	53	2.81e-4	SMART
low complexity region	69	80	N/A	INTRINSIC
low complexity region	116	134	N/A	INTRINSIC
low complexity region	173	192	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
low complexity region	288	308	N/A	INTRINSIC
low complexity region	310	330	N/A	INTRINSIC
low complexity region	353	377	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000092706

SMART Domains

Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499

Domain	Start	End	E-Value	Type
PDB:2CCI\|I	74	101	3e-6	PDB
AAA	196	349	2.75e-5	SMART
Cdc6_C	467	547	7.14e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000092706

SMART Domains

Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499

Domain	Start	End	E-Value	Type
PDB:2CCI\|I	74	101	3e-6	PDB
AAA	196	349	2.75e-5	SMART
Cdc6_C	467	547	7.14e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000093937

SMART Domains

Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499

Domain	Start	End	E-Value	Type
PDB:2CCI\|I	102	128	1e-5	PDB
AAA	223	376	2.75e-5	SMART
Cdc6_C	494	574	7.14e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000093937

SMART Domains

Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499

Domain	Start	End	E-Value	Type
PDB:2CCI\|I	102	128	1e-5	PDB
AAA	223	376	2.75e-5	SMART
Cdc6_C	494	574	7.14e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133779

SMART Domains

Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499

Domain	Start	End	E-Value	Type
PDB:2CCI\|I	74	101	2e-6	PDB
AAA	196	348	4.17e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133779

SMART Domains

Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499

Domain	Start	End	E-Value	Type
PDB:2CCI\|I	74	101	2e-6	PDB
AAA	196	348	4.17e-5	SMART

Meta Mutation Damage Score

0.9505

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

94% (77/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,581,644 (GRCm39)	D4800G	probably benign	Het
Akna	T	C	4: 63,305,269 (GRCm39)	D499G	probably benign	Het
Arid1b	A	C	17: 5,387,565 (GRCm39)	I1673L	probably benign	Het
Bcr	T	A	10: 75,011,161 (GRCm39)	M24K	probably benign	Het
Bsn	A	G	9: 107,989,854 (GRCm39)	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,867,227 (GRCm39)	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cfap97d2	A	T	8: 13,785,937 (GRCm39)	N69I	probably damaging	Het
Cmtm1	C	T	8: 105,020,307 (GRCm39)	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,592,459 (GRCm39)	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,906,131 (GRCm39)		probably null	Het
Col5a3	T	C	9: 20,720,887 (GRCm39)	H149R	unknown	Het
Coro7	T	G	16: 4,449,858 (GRCm39)	Q634P	probably benign	Het
Crym	A	G	7: 119,800,298 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,532,556 (GRCm39)	F2546L	probably benign	Het
Dmap1	T	C	4: 117,533,236 (GRCm39)	T273A	probably benign	Het
Dnah1	T	C	14: 30,994,899 (GRCm39)	Y2786C	probably damaging	Het
Echs1	A	C	7: 139,690,561 (GRCm39)		probably benign	Het
Edem3	T	A	1: 151,680,449 (GRCm39)	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642 (GRCm39)	I127V	probably benign	Het
Fam193a	A	G	5: 34,578,130 (GRCm39)	D208G	probably benign	Het
Farp2	T	C	1: 93,508,621 (GRCm39)	V773A	probably benign	Het
Gas6	A	G	8: 13,516,848 (GRCm39)	V550A	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm2423	A	G	13: 13,406,961 (GRCm39)		noncoding transcript	Het
Grin1	T	C	2: 25,184,482 (GRCm39)	S911G	probably benign	Het
Hkdc1	T	C	10: 62,236,133 (GRCm39)	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270 (GRCm39)		probably benign	Het
Iars2	A	G	1: 185,048,176 (GRCm39)	Y519H	probably damaging	Het
Ikbkb	A	T	8: 23,159,623 (GRCm39)	M455K	probably benign	Het
Keap1	G	T	9: 21,142,706 (GRCm39)	H516Q	probably benign	Het
Klk1b27	A	T	7: 43,705,956 (GRCm39)	I220F	probably damaging	Het
Knop1	G	A	7: 118,455,087 (GRCm39)		probably benign	Het
Lhcgr	T	C	17: 89,050,030 (GRCm39)	T499A	probably benign	Het
Lrch3	A	T	16: 32,808,854 (GRCm39)		probably null	Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,648,962 (GRCm39)	L1652P	probably damaging	Het
Mbl1	T	C	14: 40,876,515 (GRCm39)	V71A	possibly damaging	Het
Med8	T	A	4: 118,268,998 (GRCm39)	M1K	probably null	Het
Mfsd2b	A	G	12: 4,918,992 (GRCm39)	L88P	probably benign	Het
Mkrn2	T	A	6: 115,588,811 (GRCm39)	C185S	probably damaging	Het
Myo1d	A	G	11: 80,670,667 (GRCm39)		probably benign	Het
Napg	T	G	18: 63,125,563 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,269,438 (GRCm39)	M253T	probably benign	Het
Oas3	T	C	5: 120,904,321 (GRCm39)	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,764,036 (GRCm39)		noncoding transcript	Het
Opn5	A	T	17: 42,918,091 (GRCm39)	M57K	probably damaging	Het
Or10a3n	A	T	7: 108,493,028 (GRCm39)	F195L	probably benign	Het
Or13j1	T	C	4: 43,705,785 (GRCm39)	K261R	probably damaging	Het
Or52p1	T	C	7: 104,267,696 (GRCm39)	V270A	possibly damaging	Het
Pde2a	C	G	7: 101,143,825 (GRCm39)	P148R	possibly damaging	Het
Prss56	C	T	1: 87,113,059 (GRCm39)	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,812,125 (GRCm39)		probably benign	Het
Rnase9	C	T	14: 51,276,901 (GRCm39)	G26R	probably damaging	Het
Skint4	T	C	4: 111,975,433 (GRCm39)	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,169,398 (GRCm39)	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,890,741 (GRCm39)	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,272,250 (GRCm39)	P476T	probably damaging	Het
Smchd1	A	T	17: 71,743,742 (GRCm39)	C474*	probably null	Het
Smurf1	A	T	5: 144,829,994 (GRCm39)	D336E	probably damaging	Het
Sox30	G	A	11: 45,875,592 (GRCm39)	S448N	probably benign	Het
Spag11a	G	A	8: 19,209,398 (GRCm39)	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,344,600 (GRCm39)	K92T	probably damaging	Het
Stam2	T	C	2: 52,610,962 (GRCm39)	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,391,489 (GRCm39)	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,899,410 (GRCm39)	P593S	probably benign	Het
Tek	T	C	4: 94,687,397 (GRCm39)	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,500,592 (GRCm39)	Y891C	probably benign	Het
Tmem220	A	G	11: 66,920,819 (GRCm39)	T75A	possibly damaging	Het
Traf3	T	G	12: 111,228,470 (GRCm39)	D560E	probably damaging	Het
Txlnb	A	G	10: 17,675,015 (GRCm39)	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,286,602 (GRCm39)	N367Y	probably benign	Het
Vnn3	A	G	10: 23,727,589 (GRCm39)	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 80,980,274 (GRCm39)	R156H	probably damaging	Het

Other mutations in Cdc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Cdc6	APN	11	98,799,597 (GRCm39)	missense	probably benign	0.07
IGL01611:Cdc6	APN	11	98,805,989 (GRCm39)	missense	probably benign	0.00
IGL02202:Cdc6	APN	11	98,811,641 (GRCm39)	critical splice donor site	probably null
IGL03090:Cdc6	APN	11	98,810,122 (GRCm39)	nonsense	probably null
R1482:Cdc6	UTSW	11	98,807,807 (GRCm39)	missense	possibly damaging	0.50
R1559:Cdc6	UTSW	11	98,803,037 (GRCm39)	missense	probably damaging	1.00
R1768:Cdc6	UTSW	11	98,803,043 (GRCm39)	missense	probably damaging	1.00
R2044:Cdc6	UTSW	11	98,801,287 (GRCm39)	missense	probably benign	0.23
R2183:Cdc6	UTSW	11	98,799,524 (GRCm39)	nonsense	probably null
R2356:Cdc6	UTSW	11	98,810,118 (GRCm39)	missense	probably benign
R2938:Cdc6	UTSW	11	98,801,586 (GRCm39)	missense	probably benign	0.00
R5279:Cdc6	UTSW	11	98,803,088 (GRCm39)	missense	probably damaging	1.00
R5943:Cdc6	UTSW	11	98,811,589 (GRCm39)	missense	probably damaging	0.99
R6514:Cdc6	UTSW	11	98,810,118 (GRCm39)	missense	probably benign
R7088:Cdc6	UTSW	11	98,810,065 (GRCm39)	missense	probably damaging	1.00
R7387:Cdc6	UTSW	11	98,799,042 (GRCm39)	intron	probably benign
R7662:Cdc6	UTSW	11	98,807,836 (GRCm39)	missense	probably benign	0.02
R7662:Cdc6	UTSW	11	98,801,438 (GRCm39)	missense	possibly damaging	0.49
R7677:Cdc6	UTSW	11	98,810,191 (GRCm39)	nonsense	probably null
R9130:Cdc6	UTSW	11	98,802,999 (GRCm39)	missense	probably damaging	1.00
R9232:Cdc6	UTSW	11	98,801,201 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TATCCAGTTGTGTGGCCATC -3'
(R):5'- GCAGGCGAGTTCCATAACAC -3'

Sequencing Primer
(F):5'- GCCATCATGCCTCAAACCAGATC -3'
(R):5'- GAAGATCAAACCTAGGTTCCTTAGC -3'

Posted On

2016-06-24