Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01451:Mcm2'

84654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm2

Ensembl Gene

ENSMUSG00000002870

Gene Name

minichromosome maintenance complex component 2

Synonyms

BM28, CDCL1, Mcmd2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01451

Quality Score

Status

Chromosome

Chromosomal Location

88883474-88898780 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 88891966 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058011] [ENSMUST00000205165]

Predicted Effect

probably benign
Transcript: ENSMUST00000058011

SMART Domains

Protein: ENSMUSP00000061923
Gene: ENSMUSG00000002870

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:MCM2_N	50	182	3.5e-20	PFAM
MCM	290	803	N/A	SMART
Blast:MCM	816	891	3e-38	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203172

Predicted Effect

probably benign
Transcript: ENSMUST00000203935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204393

Predicted Effect

probably benign
Transcript: ENSMUST00000205165

SMART Domains

Protein: ENSMUSP00000145295
Gene: ENSMUSG00000002870

Domain	Start	End	E-Value	Type
low complexity region	11	32	N/A	INTRINSIC

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 is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for non functional alleles at this locus die prematurely. There is an increased tumor incidence and abnormalities in a variety of systems in mice as they become moribund. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	A	G	3: 124,579,878	S23P	possibly damaging	Het
Adam1a	T	C	5: 121,519,376	Y618C	probably benign	Het
Amigo2	A	C	15: 97,245,226	S438R	probably benign	Het
Atp5k	T	C	5: 108,434,056	I21V	probably benign	Het
Dnah2	T	C	11: 69,474,191		probably benign	Het
Dock2	A	G	11: 34,310,390	Y984H	probably damaging	Het
Dpysl2	T	A	14: 66,807,918	I469F	possibly damaging	Het
Edem3	C	T	1: 151,818,628	T886I	probably benign	Het
Gart	T	C	16: 91,625,512	T706A	probably benign	Het
Gfpt2	A	T	11: 49,807,690		probably benign	Het
Gm11541	T	G	11: 94,695,669	D84A	unknown	Het
Gne	T	C	4: 44,041,860		probably null	Het
Gria4	A	T	9: 4,503,652	D321E	probably benign	Het
Ift122	T	G	6: 115,912,604		probably null	Het
Lcp2	A	T	11: 34,047,345		probably benign	Het
Olfr921	A	G	9: 38,775,929	I225V	probably benign	Het
Ptpru	C	A	4: 131,769,492		probably benign	Het
Rpap2	T	C	5: 107,603,626		probably null	Het
Slc25a39	T	C	11: 102,404,900	T138A	probably damaging	Het
St6galnac1	A	C	11: 116,769,339	S49R	probably benign	Het
Stat1	T	C	1: 52,139,343	L312P	probably damaging	Het
Tmem198	T	C	1: 75,484,370		probably benign	Het
Top2a	A	T	11: 99,011,030	L458Q	probably damaging	Het
Treml4	T	C	17: 48,264,995		probably benign	Het
Trpm6	A	G	19: 18,809,569	D503G	probably damaging	Het
Ttn	C	A	2: 76,945,273	E1854D	unknown	Het
Ubqln3	A	T	7: 104,142,196	M229K	possibly damaging	Het
Zfyve9	T	C	4: 108,682,260	T939A	probably damaging	Het

Other mutations in Mcm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Mcm2	APN	6	88893401	missense	probably benign	0.04
IGL01082:Mcm2	APN	6	88887877	missense	probably benign	0.05
IGL01534:Mcm2	APN	6	88887718	critical splice donor site	probably null
IGL01670:Mcm2	APN	6	88887632	unclassified	probably benign
IGL01724:Mcm2	APN	6	88886062	missense	probably damaging	1.00
IGL01936:Mcm2	APN	6	88891726	missense	probably damaging	1.00
IGL02082:Mcm2	APN	6	88888236	nonsense	probably null
R0254:Mcm2	UTSW	6	88884016	missense	probably damaging	0.99
R1673:Mcm2	UTSW	6	88892078	missense	probably benign	0.12
R1740:Mcm2	UTSW	6	88884044	missense	probably damaging	1.00
R1761:Mcm2	UTSW	6	88889788	missense	possibly damaging	0.90
R1917:Mcm2	UTSW	6	88891803	missense	possibly damaging	0.88
R2250:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R2307:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R2308:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R2309:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R2379:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R3431:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R3432:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R3878:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R3911:Mcm2	UTSW	6	88888252	missense	probably damaging	0.98
R3934:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R3936:Mcm2	UTSW	6	88893008	missense	probably damaging	0.99
R4640:Mcm2	UTSW	6	88887804	missense	possibly damaging	0.53
R4749:Mcm2	UTSW	6	88891991	missense	possibly damaging	0.95
R5267:Mcm2	UTSW	6	88897450	missense	probably benign
R5701:Mcm2	UTSW	6	88893091	missense	probably damaging	1.00
R5872:Mcm2	UTSW	6	88884071	missense	probably benign	0.05
R6118:Mcm2	UTSW	6	88887836	missense	probably damaging	1.00
R6152:Mcm2	UTSW	6	88889909	critical splice acceptor site	probably benign
R6207:Mcm2	UTSW	6	88885862	missense	probably benign	0.00
R6550:Mcm2	UTSW	6	88886959	critical splice donor site	probably null
R7184:Mcm2	UTSW	6	88891794	missense	probably damaging	1.00
R7303:Mcm2	UTSW	6	88887946	missense	probably damaging	1.00
R8069:Mcm2	UTSW	6	88892057	missense	probably damaging	1.00
R8215:Mcm2	UTSW	6	88897311	missense	probably damaging	0.98

Posted On

2013-11-11