Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Mcm2'

180706

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

88860456-88875762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88868708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 350 (G350C)

Ref Sequence

ENSEMBL: ENSMUSP00000061923 (fasta)

Gene Model

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

AlphaFold

P97310

Predicted Effect

probably damaging
Transcript: ENSMUST00000058011
AA Change: G350C

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

SMART Domains

Protein: ENSMUSP00000061923
Gene: ENSMUSG00000002870
AA Change: G350C

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: 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	probably damaging	Het

Other mutations in Mcm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Mcm2	APN	6	88,870,383 (GRCm39)	missense	probably benign	0.04
IGL01082:Mcm2	APN	6	88,864,859 (GRCm39)	missense	probably benign	0.05
IGL01451:Mcm2	APN	6	88,868,948 (GRCm39)	splice site	probably benign
IGL01534:Mcm2	APN	6	88,864,700 (GRCm39)	critical splice donor site	probably null
IGL01670:Mcm2	APN	6	88,864,614 (GRCm39)	unclassified	probably benign
IGL01724:Mcm2	APN	6	88,863,044 (GRCm39)	missense	probably damaging	1.00
IGL02082:Mcm2	APN	6	88,865,218 (GRCm39)	nonsense	probably null
dander	UTSW	6	88,864,786 (GRCm39)	missense	possibly damaging	0.53
spores	UTSW	6	88,874,432 (GRCm39)	missense	probably benign
R0254:Mcm2	UTSW	6	88,860,998 (GRCm39)	missense	probably damaging	0.99
R1673:Mcm2	UTSW	6	88,869,060 (GRCm39)	missense	probably benign	0.12
R1740:Mcm2	UTSW	6	88,861,026 (GRCm39)	missense	probably damaging	1.00
R1761:Mcm2	UTSW	6	88,866,770 (GRCm39)	missense	possibly damaging	0.90
R1917:Mcm2	UTSW	6	88,868,785 (GRCm39)	missense	possibly damaging	0.88
R2250:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R2307:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R2308:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R2309:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R2379:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R3431:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R3432:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R3878:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R3911:Mcm2	UTSW	6	88,865,234 (GRCm39)	missense	probably damaging	0.98
R3934:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R3936:Mcm2	UTSW	6	88,869,990 (GRCm39)	missense	probably damaging	0.99
R4640:Mcm2	UTSW	6	88,864,786 (GRCm39)	missense	possibly damaging	0.53
R4749:Mcm2	UTSW	6	88,868,973 (GRCm39)	missense	possibly damaging	0.95
R5267:Mcm2	UTSW	6	88,874,432 (GRCm39)	missense	probably benign
R5701:Mcm2	UTSW	6	88,870,073 (GRCm39)	missense	probably damaging	1.00
R5872:Mcm2	UTSW	6	88,861,053 (GRCm39)	missense	probably benign	0.05
R6118:Mcm2	UTSW	6	88,864,818 (GRCm39)	missense	probably damaging	1.00
R6152:Mcm2	UTSW	6	88,866,891 (GRCm39)	critical splice acceptor site	probably benign
R6207:Mcm2	UTSW	6	88,862,844 (GRCm39)	missense	probably benign	0.00
R6550:Mcm2	UTSW	6	88,863,941 (GRCm39)	critical splice donor site	probably null
R7184:Mcm2	UTSW	6	88,868,776 (GRCm39)	missense	probably damaging	1.00
R7303:Mcm2	UTSW	6	88,864,928 (GRCm39)	missense	probably damaging	1.00
R8069:Mcm2	UTSW	6	88,869,039 (GRCm39)	missense	probably damaging	1.00
R8215:Mcm2	UTSW	6	88,874,293 (GRCm39)	missense	probably damaging	0.98
R9121:Mcm2	UTSW	6	88,861,019 (GRCm39)	missense	probably benign
R9745:Mcm2	UTSW	6	88,868,729 (GRCm39)	nonsense	probably null

Posted On

2014-05-07