Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02371:Cdc45'

290925

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc45

Ensembl Gene

ENSMUSG00000000028

Gene Name

cell division cycle 45

Synonyms

Cdc45l

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02371

Quality Score

Status

Chromosome

Chromosomal Location

18780447-18811987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18798729 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 200 (M200I)

Ref Sequence

ENSEMBL: ENSMUSP00000000028 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000000028
AA Change: M200I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: M200I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096990
AA Change: M154I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: M154I

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

0.1154

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	T	C	10: 18,646,539	T580A	probably benign	Het
Casp2	T	A	6: 42,267,968	D100E	probably benign	Het
Cd1d1	C	A	3: 86,998,881	R29L	probably benign	Het
Cyct	A	G	2: 76,354,090	*106R	probably null	Het
Enam	A	G	5: 88,502,809	I726V	probably benign	Het
Epha3	T	G	16: 63,585,020		probably null	Het
Erbb4	T	C	1: 68,290,294	D632G	probably benign	Het
Fam217a	T	C	13: 34,911,401	N125S	possibly damaging	Het
Fbxo32	A	T	15: 58,181,464		probably benign	Het
Foxa1	T	C	12: 57,542,700	T245A	probably damaging	Het
Gars	T	C	6: 55,065,467	V395A	probably benign	Het
Gimap5	A	T	6: 48,753,003	N169I	probably damaging	Het
Itgav	A	G	2: 83,770,053	M266V	probably damaging	Het
Klhl14	G	A	18: 21,652,181	S63F	probably damaging	Het
Lpp	G	A	16: 24,761,611	A26T	probably damaging	Het
Lrrc17	T	C	5: 21,560,996	Y159H	probably damaging	Het
Lzts1	A	T	8: 69,138,798	S233T	probably damaging	Het
Mdn1	T	C	4: 32,676,860		probably benign	Het
Nrf1	A	T	6: 30,118,991	I382F	possibly damaging	Het
Olfr1287	A	G	2: 111,450,009	R290G	probably damaging	Het
Olfr24	G	T	9: 18,754,704	S310R	probably benign	Het
Olfr266	A	T	3: 106,822,046	F171Y	probably damaging	Het
Pde9a	T	A	17: 31,420,285	V63D	possibly damaging	Het
Plcg1	T	A	2: 160,753,507	N484K	probably damaging	Het
Plekhg4	T	A	8: 105,379,059		probably null	Het
Pot1b	A	G	17: 55,695,092	Y161H	possibly damaging	Het
Ptchd4	G	A	17: 42,316,974	G109S	possibly damaging	Het
Rad51ap1	T	C	6: 126,927,564	N119S	probably benign	Het
Rbm22	C	T	18: 60,571,956		probably benign	Het
Stk36	T	A	1: 74,622,255	S480R	probably benign	Het
Ugt2b5	A	T	5: 87,127,676		probably null	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
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

Posted On

2015-04-16