Mutagenetix > Incidental Mutation

Incidental Mutation 'R7677:Cdc6'

592524

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R7677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98798627-98814766 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98810191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 500 (L500*)

Ref Sequence

ENSEMBL: ENSMUSP00000091469 (fasta)

Gene Model

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

AlphaFold

O89033

Predicted Effect

probably null
Transcript: ENSMUST00000092706
AA Change: L473*

SMART Domains

Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: L473*

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
AA Change: L500*

SMART Domains

Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: L500*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,349 (GRCm39)	R2699*	probably null	Het
Adra2a	G	A	19: 54,035,375 (GRCm39)	V244M	probably damaging	Het
Apba2	A	G	7: 64,344,845 (GRCm39)	S12G	probably benign	Het
Arhgap20	T	A	9: 51,751,698 (GRCm39)	M383K	probably damaging	Het
Armc12	T	C	17: 28,756,865 (GRCm39)	V210A	probably benign	Het
Ash1l	A	T	3: 88,950,500 (GRCm39)	H2131L	probably damaging	Het
Atg5	T	C	10: 44,223,035 (GRCm39)	L219P	probably damaging	Het
Atp2c2	A	T	8: 120,474,915 (GRCm39)	M507L	probably benign	Het
Atr	T	A	9: 95,767,515 (GRCm39)	L1191I	probably damaging	Het
B4galt5	T	C	2: 167,146,998 (GRCm39)	T279A	probably damaging	Het
Bglap2	T	C	3: 88,285,280 (GRCm39)	E62G	probably damaging	Het
Card6	A	G	15: 5,127,926 (GRCm39)	S1157P	unknown	Het
Ccdc17	T	C	4: 116,454,962 (GRCm39)		probably null	Het
Dst	G	T	1: 34,208,403 (GRCm39)		probably null	Het
Fbxw7	C	T	3: 84,811,373 (GRCm39)	T166I		Het
Fer1l6	T	C	15: 58,474,139 (GRCm39)	V955A	probably benign	Het
Fezf2	T	C	14: 12,344,941 (GRCm38)	E82G	probably benign	Het
Flii	T	C	11: 60,610,971 (GRCm39)	D486G	probably damaging	Het
Fndc3a	T	C	14: 72,804,854 (GRCm39)	T476A	probably benign	Het
Gbp3	C	T	3: 142,266,264 (GRCm39)		probably benign	Het
Hebp2	T	C	10: 18,421,547 (GRCm39)		probably benign	Het
Hhipl2	T	A	1: 183,204,951 (GRCm39)	M88K	possibly damaging	Het
Hip1	A	G	5: 135,459,171 (GRCm39)	C605R	probably benign	Het
Hoxd13	T	C	2: 74,498,909 (GRCm39)	S86P	probably benign	Het
Hspa12a	G	T	19: 58,849,317 (GRCm39)	A2E	probably benign	Het
Il1rl1	A	C	1: 40,485,864 (GRCm39)	*338C	probably null	Het
Lrrc37a	G	T	11: 103,390,464 (GRCm39)	P1654T	probably benign	Het
Mybpc3	A	T	2: 90,959,376 (GRCm39)	D704V	probably benign	Het
Napsa	A	T	7: 44,231,130 (GRCm39)	K120*	probably null	Het
Nat3	A	C	8: 68,000,139 (GRCm39)	Y6S	probably damaging	Het
Negr1	C	T	3: 156,774,823 (GRCm39)	Q180*	probably null	Het
Nynrin	T	A	14: 56,107,693 (GRCm39)	D933E	probably benign	Het
Or10al3	T	A	17: 38,011,957 (GRCm39)	I132K	probably damaging	Het
Or10c1	A	T	17: 37,522,386 (GRCm39)	Y119*	probably null	Het
Or2l5	G	A	16: 19,333,678 (GRCm39)	A236V	probably benign	Het
Or6k2	A	T	1: 173,986,614 (GRCm39)	I92F	probably damaging	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Or8c16	T	A	9: 38,130,324 (GRCm39)	N65K	probably damaging	Het
Or9s23	C	T	1: 92,500,983 (GRCm39)	T30I	not run	Het
Pbx1	A	T	1: 168,030,995 (GRCm39)	F208I	probably damaging	Het
Pcdha11	T	C	18: 37,144,605 (GRCm39)	V232A	probably damaging	Het
Pcsk5	A	G	19: 17,558,593 (GRCm39)	Y605H	possibly damaging	Het
Pde3a	T	A	6: 141,195,983 (GRCm39)	L223Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm2	G	A	5: 124,261,632 (GRCm39)	R977C	probably damaging	Het
Pkdrej	A	C	15: 85,699,788 (GRCm39)	D2049E	probably benign	Het
Psmd6	T	C	14: 14,120,837 (GRCm38)	D16G	probably benign	Het
Pth2r	C	A	1: 65,427,605 (GRCm39)	T426N	probably benign	Het
Ralgapa1	G	T	12: 55,705,928 (GRCm39)	L1865M	probably damaging	Het
Ryr3	T	A	2: 112,664,245 (GRCm39)	Q1702L	probably benign	Het
Sars2	A	G	7: 28,446,176 (GRCm39)	Y135C	probably benign	Het
Sdha	G	A	13: 74,481,172 (GRCm39)	R345*	probably null	Het
Selp	A	T	1: 163,961,525 (GRCm39)	S413C	probably damaging	Het
Sirt2	G	A	7: 28,484,835 (GRCm39)	C221Y	probably damaging	Het
Skic2	A	T	17: 35,067,140 (GRCm39)	S100T	probably benign	Het
Socs7	C	A	11: 97,280,468 (GRCm39)	Q566K	probably benign	Het
Spdye4c	G	A	2: 128,436,056 (GRCm39)	V151M	probably benign	Het
Srcap	A	G	7: 127,158,980 (GRCm39)	D2952G	unknown	Het
Srd5a2	A	T	17: 74,354,749 (GRCm39)	L25Q	probably damaging	Het
Srrt	A	T	5: 137,298,410 (GRCm39)	V254D	probably damaging	Het
Tap2	T	C	17: 34,424,494 (GRCm39)	F76L	probably benign	Het
Tdpoz4	T	A	3: 93,704,815 (GRCm39)	*371R	probably null	Het
Tm9sf3	A	T	19: 41,209,743 (GRCm39)	F441I	probably damaging	Het
Tmem259	C	T	10: 79,814,414 (GRCm39)	R314Q	probably damaging	Het
Trim28	G	T	7: 12,762,040 (GRCm39)	R312L	possibly damaging	Het
Tsc1	A	G	2: 28,562,829 (GRCm39)	T393A	probably benign	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube2v2	T	C	16: 15,398,964 (GRCm39)	T42A	probably benign	Het
Vmn2r-ps158	A	C	7: 42,674,163 (GRCm39)	H414P	probably damaging	Het
Zfp609	A	T	9: 65,604,456 (GRCm39)	S1342R	possibly damaging	Het
Zg16	A	T	7: 126,649,763 (GRCm39)	V66E	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
R4723:Cdc6	UTSW	11	98,799,657 (GRCm39)	critical splice donor site	probably null
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
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'- TGGTGCTAGCACTCAGGAAG -3'
(R):5'- CGCTCTATCTGGTTCATGGC -3'

Sequencing Primer
(F):5'- CAGATTTTGAGGACAGCTACAC -3'
(R):5'- CCTGGAACTCACTAGGATTAGACTG -3'

Posted On

2019-11-12