Mutagenetix > Incidental Mutations

Incidental Mutation 'R5353:Cdc45'

423935

Institutional Source

Beutler Lab

Gene Symbol

Cdc45

Ensembl Gene

ENSMUSG00000000028

Gene Name

cell division cycle 45

Synonyms

Cdc45l

MMRRC Submission

042932-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5353 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18780447-18811987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18795897 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 205 (R205H)

Ref Sequence

ENSEMBL: ENSMUSP00000094753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000096990]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000028
AA Change: R251H

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

SMART Domains

Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: R251H

Domain	Start	End	E-Value	Type
Pfam:CDC45	19	564	1.6e-152	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000096990
AA Change: R205H

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

SMART Domains

Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: R205H

Domain	Start	End	E-Value	Type
Pfam:CDC45	18	74	7.9e-24	PFAM
Pfam:CDC45	73	520	4.5e-138	PFAM

Meta Mutation Damage Score

0.1932

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,801,399	S649P	probably damaging	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Adamts1	T	A	16: 85,802,608	M35L	probably benign	Het
Adgrg3	A	T	8: 95,035,928	H202L	probably damaging	Het
Anln	G	T	9: 22,360,517	R681S	probably damaging	Het
Aprt	A	T	8: 122,575,408	M1K	probably null	Het
Arid3b	G	T	9: 57,795,037		probably null	Het
BC080695	A	G	4: 143,571,237	T76A	probably benign	Het
Cbl	A	G	9: 44,173,323	F172L	probably damaging	Het
Cd109	G	T	9: 78,710,239	V1340L	probably damaging	Het
Chrm3	A	G	13: 9,878,557	Y148H	probably damaging	Het
Cog7	A	C	7: 121,941,247		probably null	Het
Cpsf1	A	T	15: 76,602,571	I255N	probably damaging	Het
Crebzf	G	A	7: 90,443,414	G134R	probably damaging	Het
Crybg1	T	C	10: 43,973,665	S1705G	probably damaging	Het
Dock6	A	T	9: 21,814,786	H1409Q	probably benign	Het
Fank1	A	G	7: 133,876,903	D232G	probably damaging	Het
Fat1	G	T	8: 45,036,131	V3480L	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fmn2	G	T	1: 174,503,006	G321W	unknown	Het
Greb1	A	T	12: 16,688,566	Y1465*	probably null	Het
Hdac9	G	A	12: 34,393,393	Q330*	probably null	Het
Kcnt2	C	T	1: 140,426,901	T298I	probably damaging	Het
Knl1	A	G	2: 119,070,983	D1055G	probably benign	Het
Mroh2b	T	C	15: 4,917,178	S487P	probably damaging	Het
Naa38	G	A	11: 69,396,582	V110I	probably benign	Het
Nkd2	T	C	13: 73,821,438	H303R	probably damaging	Het
Nr1d2	A	G	14: 18,222,125	C49R	probably benign	Het
Olfr1216	A	G	2: 89,013,755	V103A	probably benign	Het
Olfr691	A	G	7: 105,337,117	Y200H	probably damaging	Het
Ovch2	T	A	7: 107,794,424	E165V	probably damaging	Het
Phyh	A	T	2: 4,942,201		probably benign	Het
Pik3r4	G	A	9: 105,667,938		probably null	Het
Ppip5k1	A	C	2: 121,311,720	V1416G	probably benign	Het
Ppm1b	T	C	17: 84,994,109	V139A	probably benign	Het
Ppp1r12a	T	G	10: 108,261,216		probably null	Het
Psmc5	G	T	11: 106,261,501	A115S	probably damaging	Het
Ptpn5	T	A	7: 47,081,894	E409V	probably benign	Het
Ptprg	T	A	14: 11,554,235		probably benign	Het
Qrich1	G	T	9: 108,544,965	V593F	probably damaging	Het
Rbbp9	T	C	2: 144,543,821	I175V	probably benign	Het
Selenot	T	C	3: 58,585,966	F88S	possibly damaging	Het
Sp110	C	T	1: 85,589,120	E219K	possibly damaging	Het
Spred2	A	G	11: 20,018,155	D208G	possibly damaging	Het
Surf1	T	C	2: 26,914,192	T197A	probably benign	Het
Taco1	G	A	11: 106,072,713		probably null	Het
Tas2r109	A	G	6: 132,980,631	V112A	possibly damaging	Het
Tpr	C	T	1: 150,445,924	R3C	probably damaging	Het
Uggt2	A	G	14: 119,081,770	I280T	probably benign	Het
Yipf2	A	G	9: 21,591,932	Y80H	possibly damaging	Het
Zscan12	T	C	13: 21,364,008	V120A	possibly damaging	Het

Other mutations in Cdc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Cdc45	APN	16	18811561	missense	probably damaging	1.00
IGL01677:Cdc45	APN	16	18787000	missense	probably benign	0.02
IGL02079:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02080:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02105:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02106:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02237:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02238:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02239:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02371:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02441:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02442:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02465:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02466:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02468:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02469:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02470:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02471:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02472:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02473:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02489:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02490:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02491:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02492:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02511:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02558:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02559:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02560:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02561:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02562:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02566:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02567:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02576:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02583:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02589:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02626:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02627:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02628:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02629:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02687:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02688:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02689:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02720:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02724:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02731:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02738:Cdc45	APN	16	18798729	missense	probably benign	0.06
IGL02991:Cdc45	UTSW	16	18798729	missense	probably benign	0.06
R0051:Cdc45	UTSW	16	18794774	missense	probably damaging	1.00
R0051:Cdc45	UTSW	16	18794774	missense	probably damaging	1.00
R0458:Cdc45	UTSW	16	18781972	splice site	probably benign
R1398:Cdc45	UTSW	16	18781971	splice site	probably benign
R1413:Cdc45	UTSW	16	18808741	missense	possibly damaging	0.63
R1792:Cdc45	UTSW	16	18807340	missense	probably benign	0.01
R2919:Cdc45	UTSW	16	18808793	missense	probably benign	0.00
R3956:Cdc45	UTSW	16	18805430	missense	probably benign	0.00
R4079:Cdc45	UTSW	16	18811360	missense	probably damaging	1.00
R4825:Cdc45	UTSW	16	18784863	missense	probably damaging	0.98
R5028:Cdc45	UTSW	16	18795180	missense	probably benign	0.43
R5214:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5215:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5309:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5311:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5312:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5352:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5354:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5355:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5356:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5424:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5426:Cdc45	UTSW	16	18795897	missense	probably damaging	1.00
R5655:Cdc45	UTSW	16	18807279	critical splice donor site	probably null
R6174:Cdc45	UTSW	16	18794704	intron	probably null
R6796:Cdc45	UTSW	16	18784857	missense	probably damaging	1.00
R7910:Cdc45	UTSW	16	18810453	missense	probably damaging	0.98
R7991:Cdc45	UTSW	16	18810453	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCATGACTCAGACATCGTC -3'
(R):5'- TCTCAGTACCTAAAGATGGGGC -3'

Sequencing Primer
(F):5'- AGGACATGGGTGGTTCTATCAC -3'
(R):5'- CTCAGTACCTAAAGATGGGGCATAGC -3'

Posted On

2016-08-04