Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01677:Cdc45'

103671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc45

Ensembl Gene

ENSMUSG00000000028

Gene Name

cell division cycle 45

Synonyms

Cdc45l

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01677

Quality Score

Status

Chromosome

Chromosomal Location

18780447-18811987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18787000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 429 (T429I)

Ref Sequence

ENSEMBL: ENSMUSP00000000028 (fasta)

Gene Model

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

AlphaFold

Q9Z1X9

Predicted Effect

probably benign
Transcript: ENSMUST00000000028
AA Change: T429I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: T429I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096990
AA Change: T383I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: T383I

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

Coding Region Coverage

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 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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 37,996,647	M154L	probably benign	Het
Asph	T	C	4: 9,607,853	D131G	probably damaging	Het
Cnga3	C	T	1: 37,244,918	R101*	probably null	Het
Cp	T	C	3: 19,966,434	I197T	probably damaging	Het
Cyp4b1	T	C	4: 115,636,282	D77G	probably damaging	Het
Dnah5	G	T	15: 28,367,782	W2771L	probably damaging	Het
Fas	G	A	19: 34,318,818	V177I	probably benign	Het
Gde1	A	G	7: 118,694,487		probably benign	Het
Hyou1	T	C	9: 44,382,012	S223P	probably benign	Het
Klre1	G	T	6: 129,582,043	G75C	probably damaging	Het
Lama1	T	C	17: 67,779,148	C1461R	probably benign	Het
Map3k7	T	C	4: 32,017,158		probably benign	Het
Mrpl18	A	T	17: 12,911,688	I178N	probably damaging	Het
Nckap1	T	C	2: 80,530,297	T503A	probably benign	Het
Olfr134	T	C	17: 38,175,875	S264P	probably damaging	Het
Olfr654	T	C	7: 104,588,145	S114P	probably damaging	Het
Olfr669	T	C	7: 104,938,645	S40P	probably benign	Het
Olfr846	T	C	9: 19,361,145	D70G	probably damaging	Het
Orc1	C	T	4: 108,604,585	T593I	probably damaging	Het
Phtf1	T	A	3: 103,998,783	S594T	probably damaging	Het
Ppp1r13b	A	T	12: 111,843,665	D78E	probably benign	Het
Proz	T	C	8: 13,065,238		probably benign	Het
Rtcb	C	A	10: 85,943,929	Q292H	probably damaging	Het
Sept11	A	T	5: 93,148,533	T95S	probably damaging	Het
Slc12a1	A	G	2: 125,178,149		probably benign	Het
Slc45a3	T	A	1: 131,978,970	I394N	probably damaging	Het
Slc8a1	T	C	17: 81,648,607	H334R	probably damaging	Het
Sort1	T	C	3: 108,344,885	I466T	probably benign	Het
Susd2	A	T	10: 75,639,431	V515E	possibly damaging	Het
Ttll3	A	G	6: 113,412,984	R778G	probably benign	Het
Ubfd1	T	A	7: 122,071,699		probably benign	Het
Utrn	G	A	10: 12,744,157	T248M	probably damaging	Het
Vmn2r11	T	G	5: 109,053,957	D227A	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
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
R5353: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	splice site	probably null
R6796:Cdc45	UTSW	16	18784857	missense	probably damaging	1.00
R7910:Cdc45	UTSW	16	18810453	missense	probably damaging	0.98
R8519:Cdc45	UTSW	16	18808847	missense	probably damaging	1.00
R8987:Cdc45	UTSW	16	18811550	missense	probably benign
R9221:Cdc45	UTSW	16	18786771	missense	probably benign	0.08

Posted On

2014-01-21