Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Cdc45'

316778

Institutional Source

Beutler Lab

Gene Symbol

Cdc45

Ensembl Gene

ENSMUSG00000000028

Gene Name

cell division cycle 45

Synonyms

Cdc45l

MMRRC Submission

040976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4079 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

18780447-18811987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18811360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 19 (V19D)

Ref Sequence

ENSEMBL: ENSMUSP00000111248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000005394] [ENSMUST00000096990] [ENSMUST00000115578] [ENSMUST00000115585] [ENSMUST00000163695] [ENSMUST00000168822] [ENSMUST00000171789] [ENSMUST00000172013]

AlphaFold

Q9Z1X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000000028
AA Change: V19D

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

SMART Domains

Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: V19D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000005394

SMART Domains

Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
Pfam:UFD1	18	194	2.1e-84	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000096990
AA Change: V19D

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

SMART Domains

Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
AA Change: V19D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115578

SMART Domains

Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
Pfam:UFD1	19	194	6.1e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115585
AA Change: V19D

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

SMART Domains

Protein: ENSMUSP00000111248
Gene: ENSMUSG00000000028
AA Change: V19D

Domain	Start	End	E-Value	Type
Pfam:CDC45	18	136	5.7e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163695

SMART Domains

Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
Pfam:UFD1	18	70	3.6e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168822

Predicted Effect

probably benign
Transcript: ENSMUST00000171789

Predicted Effect

probably benign
Transcript: ENSMUST00000172013

SMART Domains

Protein: ENSMUSP00000128186
Gene: ENSMUSG00000005262

Domain	Start	End	E-Value	Type
PDB:2YUJ\|A	11	36	2e-12	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232311

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680		probably null	Het
Ankfy1	C	A	11: 72,690,009		probably benign	Het
Ap4b1	T	A	3: 103,813,378	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,975,292	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129		probably benign	Het
Bnc1	T	C	7: 81,973,760	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479	T817A	probably benign	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695		probably null	Het
Ccdc18	C	T	5: 108,158,528	Q270*	probably null	Het
Cfap57	C	A	4: 118,598,997	S500I	probably benign	Het
Cnga3	A	T	1: 37,241,865	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335		probably benign	Het
Cyp2a4	A	G	7: 26,307,366	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007		probably null	Het
F13b	T	A	1: 139,501,770	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,755,612	V318A	probably damaging	Het
Fzd9	A	G	5: 135,249,636	V465A	probably benign	Het
Gm10354	A	T	5: 14,977,649	L71Q	probably damaging	Het
Hbs1l	T	C	10: 21,352,602	V493A	probably damaging	Het
Hgs	T	A	11: 120,483,048	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284		probably null	Het
Lrig3	A	C	10: 126,009,787	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,542,849	L152W	probably damaging	Het
Mog	A	G	17: 37,012,410	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363	V6145A	probably benign	Het
Olfr1037	A	G	2: 86,085,312	V155A	possibly damaging	Het
Olfr686	A	T	7: 105,204,021	H107Q	probably damaging	Het
Patl1	C	T	19: 11,931,630	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522	M342L	probably benign	Het
Phax	A	G	18: 56,575,979	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710		probably null	Het
Ptprv	A	G	1: 135,110,430		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551	V254I	probably benign	Het
St6galnac2	A	T	11: 116,681,898	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tjp2	A	T	19: 24,108,818	V780E	possibly damaging	Het
Tns1	G	A	1: 73,995,308	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623		probably null	Het
Usp32	T	A	11: 85,039,229	Y574F	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TCTAGCTCCAGTATAGGTCAGAGAG -3'
(R):5'- GCAAGGAGTTCTACGAGACG -3'

Sequencing Primer
(F):5'- CAGAGAGGATATTTTGGGTTCCTCAC -3'
(R):5'- AGTTCTACGAGACGGTCCAC -3'

Posted On

2015-05-15