Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Cdc6'

591658

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

045737-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R7662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98798627-98814766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98801438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 194 (N194K)

Ref Sequence

ENSEMBL: ENSMUSP00000091469 (fasta)

Gene Model

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

AlphaFold

O89033

Predicted Effect

probably benign
Transcript: ENSMUST00000092706
AA Change: N167K

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: N167K

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

possibly damaging
Transcript: ENSMUST00000093937
AA Change: N194K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: N194K

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
AA Change: N167K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499
AA Change: N167K

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,885,999 (GRCm39)	S48L	probably benign	Het
Abi3bp	A	G	16: 56,437,686 (GRCm39)		probably null	Het
Adss1	T	A	12: 112,606,172 (GRCm39)	V456E	probably damaging	Het
Aimp1	A	T	3: 132,379,827 (GRCm39)	V105E	probably benign	Het
Ankrd6	G	A	4: 32,818,694 (GRCm39)	R270C	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asb15	T	A	6: 24,566,089 (GRCm39)	D347E	probably benign	Het
Axin2	T	A	11: 108,833,282 (GRCm39)	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Celf2	C	A	2: 6,558,728 (GRCm39)	G393C	probably damaging	Het
Cep290	T	A	10: 100,373,665 (GRCm39)	M1315K	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	T	9: 9,661,390 (GRCm39)	M887K	probably benign	Het
Col17a1	T	C	19: 47,669,940 (GRCm39)	I71V	probably benign	Het
Crot	T	C	5: 9,019,072 (GRCm39)	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,613,852 (GRCm39)	V246D	probably damaging	Het
Cyb5r4	A	G	9: 86,909,091 (GRCm39)	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,470,037 (GRCm39)	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,759,713 (GRCm39)	I273V	probably damaging	Het
Dkk2	A	G	3: 131,883,629 (GRCm39)		probably null	Het
Dnaja2	A	C	8: 86,265,905 (GRCm39)	D393E	probably benign	Het
Dscc1	T	A	15: 54,939,561 (GRCm39)	I461F	possibly damaging	Het
Dspp	A	T	5: 104,325,736 (GRCm39)	S700C	unknown	Het
Ect2	T	A	3: 27,185,947 (GRCm39)	H512L	probably damaging	Het
Eif1b	A	G	9: 120,323,277 (GRCm39)	T46A	possibly damaging	Het
Fam114a2	A	T	11: 57,398,391 (GRCm39)	D182E	probably damaging	Het
Fez1	C	A	9: 36,781,796 (GRCm39)	P347H	probably damaging	Het
Fgd5	G	A	6: 92,026,912 (GRCm39)		probably null	Het
Flad1	T	A	3: 89,310,758 (GRCm39)	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,868,614 (GRCm39)	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,127,137 (GRCm39)	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,682,686 (GRCm39)	S16Y	unknown	Het
Gm5624	T	C	14: 44,799,390 (GRCm39)	R56G	possibly damaging	Het
Gpatch11	A	C	17: 79,146,484 (GRCm39)	Q43P	probably benign	Het
Gtpbp2	A	G	17: 46,477,361 (GRCm39)	T409A	probably benign	Het
Hmcn2	T	C	2: 31,272,357 (GRCm39)	I1279T	probably benign	Het
Itih3	T	A	14: 30,639,287 (GRCm39)	N429Y	probably benign	Het
Lrp5	A	G	19: 3,736,353 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,452 (GRCm39)	Y93F	probably benign	Het
Lypd9	T	C	11: 58,338,269 (GRCm39)	N41S	probably benign	Het
Malrd1	T	A	2: 15,876,265 (GRCm39)	V1404D	unknown	Het
Med1	T	C	11: 98,046,218 (GRCm39)	N1526S	unknown	Het
Myt1l	A	G	12: 29,876,868 (GRCm39)	D173G	unknown	Het
Nckap1l	A	T	15: 103,371,012 (GRCm39)	H197L	probably damaging	Het
Nipa1	T	C	7: 55,629,372 (GRCm39)	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,619,542 (GRCm39)	R132*	probably null	Het
Nrap	G	T	19: 56,308,715 (GRCm39)	A1700E	probably benign	Het
Odr4	T	C	1: 150,258,045 (GRCm39)	S197G	probably benign	Het
Or13p8	T	A	4: 118,583,504 (GRCm39)	F20Y	probably damaging	Het
Or8g32	A	T	9: 39,305,389 (GRCm39)	M98L	probably benign	Het
Padi6	T	C	4: 140,456,306 (GRCm39)	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,631,788 (GRCm39)	E528K	probably damaging	Het
Pcnt	T	C	10: 76,223,356 (GRCm39)	D1942G	probably benign	Het
Pcnx2	C	T	8: 126,545,510 (GRCm39)	W1167*	probably null	Het
Pkp3	C	T	7: 140,658,292 (GRCm39)	T19I	probably benign	Het
Plekhg5	T	C	4: 152,188,755 (GRCm39)	L199P	probably damaging	Het
Rasal1	A	G	5: 120,800,249 (GRCm39)	T171A	probably benign	Het
Rgsl1	T	C	1: 153,701,225 (GRCm39)	I410V	probably benign	Het
Scart2	T	C	7: 139,874,725 (GRCm39)	V401A	possibly damaging	Het
Sftpa1	C	A	14: 40,856,169 (GRCm39)	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,734,737 (GRCm39)	*686R	probably null	Het
Smap1	A	T	1: 23,916,855 (GRCm39)	N91K	probably damaging	Het
Tenm3	A	G	8: 48,788,762 (GRCm39)	S695P	probably benign	Het
Thoc3	A	T	13: 54,611,617 (GRCm39)	H223Q	probably damaging	Het
Tmco4	T	C	4: 138,737,872 (GRCm39)	F156L	probably benign	Het
Tmem30a	C	T	9: 79,682,513 (GRCm39)	V188I	probably benign	Het
Trim27	T	A	13: 21,376,328 (GRCm39)	C359S	probably benign	Het
Trrap	A	G	5: 144,769,321 (GRCm39)	T2609A	probably benign	Het
Ttn	A	G	2: 76,692,744 (GRCm39)	V446A		Het
Vat1l	T	A	8: 115,009,084 (GRCm39)	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,094,552 (GRCm39)	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,308,521 (GRCm39)	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,460,492 (GRCm39)	L606*	probably null	Het
Vmn2r93	G	T	17: 18,525,631 (GRCm39)	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304 (GRCm39)	N466K	probably damaging	Het
Zfp507	A	T	7: 35,487,229 (GRCm39)	Y746*	probably null	Het
Zfp521	A	C	18: 13,977,173 (GRCm39)	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,653,278 (GRCm39)		probably null	Het
Zfp831	G	A	2: 174,487,934 (GRCm39)	A870T	possibly damaging	Het
Zfp936	A	T	7: 42,839,336 (GRCm39)	K268*	probably null	Het
Zhx2	C	A	15: 57,685,572 (GRCm39)	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679 (GRCm39)	K654*	probably null	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
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'- GCAAAGCAGATCCTGAGCAG -3'
(R):5'- CATAATTCAGATGCTTGGTGTACC -3'

Sequencing Primer
(F):5'- TCCTGAGCAGAAATGTCCG -3'
(R):5'- GTACCTTGAAGTCTTGCAGAATCCG -3'

Posted On

2019-11-12