Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02738:Cdc45'

305735

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 #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

18780447-18811987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18798729 bp (GRCm38)

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]

AlphaFold

Q9Z1X9

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	A	T	2: 150,624,872		probably benign	Het
Akr1c21	A	T	13: 4,580,301	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,599,276	K6I	probably benign	Het
Angel1	G	A	12: 86,705,286	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,832,975	*988K	probably null	Het
Arnt	T	A	3: 95,495,320		probably null	Het
Atp1a3	T	A	7: 24,990,476	D519V	possibly damaging	Het
Bdp1	C	A	13: 100,051,353	A1575S	probably benign	Het
Bglap	G	A	3: 88,384,408	T3I	unknown	Het
Brca2	C	T	5: 150,567,035	P3054L	probably damaging	Het
Btn2a2	C	A	13: 23,478,806	E316*	probably null	Het
C1qtnf9	C	T	14: 60,779,939	T306I	probably benign	Het
Caprin2	T	C	6: 148,842,862	T1022A	probably damaging	Het
Cd109	T	C	9: 78,691,299	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,984,250	L186S	probably benign	Het
Chd6	A	T	2: 160,965,698	S1865R	probably benign	Het
Chrna2	T	C	14: 66,149,440	V345A	probably benign	Het
Dnah1	T	G	14: 31,292,640	E1756A	probably benign	Het
Dnah3	C	T	7: 119,965,497	A2637T	probably benign	Het
Ern2	A	G	7: 122,182,899	F80S	probably damaging	Het
Ero1lb	A	G	13: 12,604,433	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,071,230	S30A	probably benign	Het
Fam71d	T	A	12: 78,734,215		probably benign	Het
Fer1l4	A	G	2: 156,045,728	L516P	probably benign	Het
Hexim2	T	C	11: 103,138,277	S52P	probably damaging	Het
Hoxb9	A	T	11: 96,274,728	M208L	possibly damaging	Het
Lbr	A	G	1: 181,832,213	V139A	probably benign	Het
Lcn10	G	A	2: 25,684,020		probably benign	Het
Letm2	A	G	8: 25,586,773	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,631,292	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,739	A325D	probably benign	Het
Mboat4	T	C	8: 34,115,104	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301		probably benign	Het
Naip2	T	A	13: 100,189,177	R74S	probably benign	Het
Neb	G	T	2: 52,243,850	Q3374K	probably damaging	Het
Nup210l	A	G	3: 90,136,850	E486G	possibly damaging	Het
Olfr1024	A	G	2: 85,904,949	V35A	probably benign	Het
Olfr1301	A	C	2: 111,754,354	Y35S	probably damaging	Het
Olfr142	A	G	2: 90,252,355	I211T	possibly damaging	Het
Olfr816	A	T	10: 129,911,331		probably benign	Het
Pde8a	A	C	7: 81,326,342	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812	Q460*	probably null	Het
Podnl1	A	G	8: 84,132,195	T550A	probably benign	Het
Ptpn22	A	G	3: 103,874,066		probably benign	Het
Pycrl	A	T	15: 75,918,716	I98N	probably damaging	Het
Rtn4r	A	G	16: 18,151,188	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,811,226	N343S	probably benign	Het
Slc2a4	A	G	11: 69,946,114	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,376,904	L145Q	probably damaging	Het
Speer2	A	T	16: 69,861,712	S22T	probably benign	Het
Sugp2	G	T	8: 70,243,799	G474V	probably damaging	Het
Syt3	C	T	7: 44,386,023	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,201,143	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,620,446	V2083A	probably benign	Het
Thra	A	T	11: 98,764,359	H355L	probably benign	Het
Tmem35b	C	T	4: 127,126,188	Q34*	probably null	Het
Unk	G	T	11: 116,056,191	G537V	probably damaging	Het
Usp32	T	A	11: 85,083,806	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,806,120	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,844,648	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,904,622	I503V	probably benign	Het
Vwa2	G	A	19: 56,897,929	G143R	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
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

2015-04-16