Mutagenetix > Incidental Mutation

Incidental Mutation 'R9130:Cdc6'

693568

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

068928-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R9130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98798627-98814766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98802999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 313 (D313G)

Ref Sequence

ENSEMBL: ENSMUSP00000091469 (fasta)

Gene Model

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

AlphaFold

O89033

Predicted Effect

probably damaging
Transcript: ENSMUST00000092706
AA Change: D286G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: D286G

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 damaging
Transcript: ENSMUST00000093937
AA Change: D313G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: D313G

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 damaging
Transcript: ENSMUST00000133779
AA Change: D285G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499
AA Change: D285G

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: 99.2%

Validation Efficiency

99% (87/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,342,753 (GRCm39)	C585R	possibly damaging	Het
Acaca	T	C	11: 84,202,145 (GRCm39)	L1380S	probably damaging	Het
Aifm2	A	C	10: 61,563,505 (GRCm39)	Q125P	probably null	Het
Ak5	A	T	3: 152,178,569 (GRCm39)	L482*	probably null	Het
Aldh3a2	T	C	11: 61,139,758 (GRCm39)	Q458R	probably benign	Het
Ank2	G	A	3: 126,810,565 (GRCm39)	T524I		Het
Apoc3	A	T	9: 46,146,481 (GRCm39)	S25T	unknown	Het
Ash1l	A	T	3: 88,965,848 (GRCm39)	R2417*	probably null	Het
Bbs12	A	G	3: 37,373,205 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,919,146 (GRCm39)	I1992N		Het
Brd9	G	A	13: 74,092,906 (GRCm39)	V299M	probably damaging	Het
Brwd1	A	T	16: 95,866,130 (GRCm39)	N217K	probably damaging	Het
C3	T	C	17: 57,518,678 (GRCm39)	Y1235C	probably damaging	Het
Cacna1c	T	C	6: 118,590,907 (GRCm39)	Y1538C		Het
Ccdc172	T	A	19: 58,525,779 (GRCm39)	H212Q	possibly damaging	Het
Cyp2e1	T	C	7: 140,353,022 (GRCm39)	V353A	probably damaging	Het
Dlg2	G	T	7: 92,080,258 (GRCm39)	V711F	probably damaging	Het
Dmac2	T	C	7: 25,320,448 (GRCm39)	F49S	probably damaging	Het
Dnah7b	A	G	1: 46,173,674 (GRCm39)	K660E	probably benign	Het
Dusp8	A	T	7: 141,642,155 (GRCm39)	S106T	probably benign	Het
Dynll1	T	A	5: 115,438,604 (GRCm39)	I34F	probably benign	Het
Epb41l4b	A	G	4: 57,103,447 (GRCm39)	F130L	possibly damaging	Het
Erc2	T	C	14: 27,751,418 (GRCm39)	Y705H	probably benign	Het
Exosc8	T	A	3: 54,638,503 (GRCm39)	L160F	probably damaging	Het
F5	A	G	1: 164,001,830 (GRCm39)	T178A	probably benign	Het
F7	C	A	8: 13,085,059 (GRCm39)	P362T	probably damaging	Het
Fkbp3	T	C	12: 65,112,567 (GRCm39)	K156E	possibly damaging	Het
Folh1	G	A	7: 86,368,913 (GRCm39)	T738I	probably benign	Het
Gatad2b	C	T	3: 90,255,936 (GRCm39)	A134V	probably benign	Het
Glud1	T	A	14: 34,057,349 (GRCm39)	W338R		Het
Gm21149	T	C	5: 15,680,261 (GRCm39)	K62E	possibly damaging	Het
Gm32742	A	G	9: 51,050,049 (GRCm39)	Y1517H	probably damaging	Het
Grik5	G	A	7: 24,767,429 (GRCm39)		probably benign	Het
Gse1	A	T	8: 121,295,052 (GRCm39)	E391V	unknown	Het
Gxylt2	C	T	6: 100,710,329 (GRCm39)	Q157*	probably null	Het
Hbq1b	C	T	11: 32,237,092 (GRCm39)	T27I	probably damaging	Het
Hoxd13	T	A	2: 74,499,382 (GRCm39)	D243E	probably benign	Het
Hsd3b3	T	A	3: 98,651,211 (GRCm39)	I80F	possibly damaging	Het
Hsf2bp	A	T	17: 32,230,082 (GRCm39)		probably benign	Het
Itch	G	A	2: 155,052,045 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,215,742 (GRCm39)	F76L	probably benign	Het
Kdm6b	T	C	11: 69,295,424 (GRCm39)	T948A	unknown	Het
Kmt2c	A	T	5: 25,516,102 (GRCm39)	H2580Q	probably benign	Het
Lrp1	T	C	10: 127,382,281 (GRCm39)	T3727A	probably benign	Het
Lrrc8a	A	G	2: 30,147,042 (GRCm39)	I619V	possibly damaging	Het
Mansc1	C	A	6: 134,586,951 (GRCm39)	G409W	probably damaging	Het
Map3k11	C	A	19: 5,746,038 (GRCm39)	L418I	possibly damaging	Het
Mettl4	T	A	17: 95,042,913 (GRCm39)	I308L	possibly damaging	Het
Myo9a	A	G	9: 59,739,514 (GRCm39)	D742G	probably damaging	Het
Mypn	T	C	10: 63,028,652 (GRCm39)	Q137R	probably benign	Het
Neurod4	A	T	10: 130,106,427 (GRCm39)	Y282*	probably null	Het
Nup210	A	G	6: 91,020,799 (GRCm39)	F965S	probably benign	Het
Oplah	T	C	15: 76,185,098 (GRCm39)	T872A	possibly damaging	Het
Or1ab2	G	T	8: 72,863,697 (GRCm39)	G96C	probably damaging	Het
Or4b12	A	G	2: 90,096,358 (GRCm39)	C139R	probably damaging	Het
Or5m8	T	G	2: 85,822,819 (GRCm39)	Y219*	probably null	Het
Or6c68	A	G	10: 129,157,897 (GRCm39)	N135S	probably benign	Het
Pkn2	A	T	3: 142,515,245 (GRCm39)	D696E	possibly damaging	Het
Pla2r1	A	T	2: 60,325,729 (GRCm39)		probably benign	Het
Plpp1	A	T	13: 112,988,038 (GRCm39)	I54L		Het
Ppp4r2	T	G	6: 100,842,113 (GRCm39)	N191K	probably damaging	Het
Ptpdc1	G	T	13: 48,739,655 (GRCm39)	P592Q	probably benign	Het
Qrich2	A	T	11: 116,347,692 (GRCm39)	L1044*	probably null	Het
Rb1cc1	A	G	1: 6,315,109 (GRCm39)	I421V	probably damaging	Het
Ripor3	A	T	2: 167,823,267 (GRCm39)	C881*	probably null	Het
Rreb1	T	C	13: 38,114,282 (GRCm39)	F547S	probably benign	Het
Scel	T	C	14: 103,770,746 (GRCm39)	V60A	probably benign	Het
Shank3	G	A	15: 89,442,419 (GRCm39)	A1771T	probably benign	Het
Slc6a20a	A	G	9: 123,469,631 (GRCm39)		probably null	Het
Slfn5	C	T	11: 82,851,446 (GRCm39)	T581I	probably damaging	Het
Ssh3	A	C	19: 4,314,113 (GRCm39)	V412G	probably damaging	Het
Stx17	T	G	4: 48,159,071 (GRCm39)		probably benign	Het
Sun3	T	G	11: 8,968,170 (GRCm39)	T274P	probably benign	Het
Tm9sf1	T	C	14: 55,875,464 (GRCm39)	T427A	probably damaging	Het
Tmem114	T	A	16: 8,229,983 (GRCm39)	I140F		Het
Tmem40	T	C	6: 115,710,980 (GRCm39)	R167G	possibly damaging	Het
Top3a	C	A	11: 60,641,401 (GRCm39)		probably null	Het
Trafd1	A	G	5: 121,516,573 (GRCm39)	V210A	probably benign	Het
Trim66	T	C	7: 109,076,896 (GRCm39)	I348V	possibly damaging	Het
Ttn	G	A	2: 76,679,172 (GRCm39)	A10850V	unknown	Het
Unc80	G	A	1: 66,677,244 (GRCm39)	A2058T	possibly damaging	Het
Upp2	T	C	2: 58,668,020 (GRCm39)	Y238H	probably damaging	Het
Vmn1r224	T	A	17: 20,640,242 (GRCm39)	I273N	probably damaging	Het
Vps13c	T	C	9: 67,836,805 (GRCm39)	S1768P	probably damaging	Het
Zfp26	G	A	9: 20,348,723 (GRCm39)	H614Y	probably damaging	Het
Zfp263	C	T	16: 3,567,701 (GRCm39)	T672I	probably benign	Het
Zfp641	T	A	15: 98,186,732 (GRCm39)	Q297L	probably benign	Het
Zfp944	T	C	17: 22,560,031 (GRCm39)	E25G	probably damaging	Het
Zfp994	T	C	17: 22,418,981 (GRCm39)	E656G	unknown	Het
Zfyve19	A	G	2: 119,045,330 (GRCm39)	D206G	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
R7677:Cdc6	UTSW	11	98,810,191 (GRCm39)	nonsense	probably null
R9232:Cdc6	UTSW	11	98,801,201 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CCAGGCCTAGTTTAAAATGTAACTG -3'
(R):5'- TAAGATGCCCAGGACAAGCTG -3'

Sequencing Primer
(F):5'- TGTCGACCTACCAACCTAA -3'
(R):5'- GAAGACCTATGATGTCAACCTCTGG -3'

Posted On

2022-01-20