Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00904:Mcm9'

28307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm9

Ensembl Gene

ENSMUSG00000058298

Gene Name

minichromosome maintenance 9 homologous recombination repair factor

Synonyms

Mcmdc1, 9030408O17Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00904

Quality Score

Status

Chromosome

Chromosomal Location

53536315-53630439 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53622921 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 308 (H308Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075540] [ENSMUST00000219838]

Predicted Effect

probably benign
Transcript: ENSMUST00000075540
AA Change: H308Q

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: H308Q

Domain	Start	End	E-Value	Type
low complexity region	22	44	N/A	INTRINSIC
low complexity region	62	79	N/A	INTRINSIC
low complexity region	81	111	N/A	INTRINSIC
MCM	268	761	9.44e-116	SMART
AAA	500	649	2.43e-6	SMART
coiled coil region	789	817	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
low complexity region	1004	1028	N/A	INTRINSIC
low complexity region	1045	1056	N/A	INTRINSIC
low complexity region	1199	1216	N/A	INTRINSIC
low complexity region	1219	1232	N/A	INTRINSIC
low complexity region	1246	1255	N/A	INTRINSIC
low complexity region	1262	1276	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000218549
AA Change: H235Q

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219838
AA Change: H308Q

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

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 a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,946,153	G236C	probably damaging	Het
Abi1	C	T	2: 22,941,930	R404Q	possibly damaging	Het
Atp8b3	C	T	10: 80,528,764	G532R	probably damaging	Het
Bysl	C	T	17: 47,601,871	M331I	probably benign	Het
Cndp1	A	G	18: 84,611,665	S468P	probably benign	Het
Esd	A	G	14: 74,749,688	*266W	probably null	Het
F5	T	C	1: 164,194,009	V1351A	probably benign	Het
Fchsd2	A	G	7: 101,271,622	D454G	probably benign	Het
Fndc1	T	A	17: 7,756,363	M1415L	probably benign	Het
Ghr	T	A	15: 3,328,120	Y222F	probably benign	Het
Gm6583	G	A	5: 112,355,128	R237*	probably null	Het
Gtf3c2	C	T	5: 31,172,858	S299N	probably damaging	Het
Ice1	C	T	13: 70,602,289	D93N	probably damaging	Het
Ints7	T	A	1: 191,596,164		probably null	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Mesp2	A	G	7: 79,812,653	D319G	probably benign	Het
Mrpl55	T	A	11: 59,205,673	S84T	probably benign	Het
Mybpc3	T	C	2: 91,120,029	V123A	probably benign	Het
Myom1	T	C	17: 71,099,949		probably benign	Het
Nfia	C	T	4: 98,065,386	P325S	probably damaging	Het
Notch4	T	C	17: 34,575,561		probably null	Het
Npepps	A	C	11: 97,258,306	V130G	probably damaging	Het
Olfr1356	A	T	10: 78,847,763	S51T	probably damaging	Het
Pja2	G	T	17: 64,283,531	T669K	probably damaging	Het
Rnf112	G	T	11: 61,452,784	D98E	probably damaging	Het
Rsl1d1	G	A	16: 11,199,694	T136I	probably damaging	Het
Samsn1	A	T	16: 75,909,120		probably benign	Het
Slc6a9	T	C	4: 117,864,617	L280P	probably damaging	Het
Svep1	T	C	4: 58,097,398	N1382D	probably benign	Het
Vmn2r100	T	G	17: 19,526,000	C474G	probably damaging	Het
Vmn2r74	C	T	7: 85,957,580	R186H	probably benign	Het
Wdr7	T	C	18: 63,796,231	I1046T	probably benign	Het

Other mutations in Mcm9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Mcm9	APN	10	53622973	missense	probably damaging	0.97
IGL00943:Mcm9	APN	10	53548589	missense	probably damaging	1.00
IGL01019:Mcm9	APN	10	53629945	missense	probably damaging	1.00
IGL02452:Mcm9	APN	10	53541557	missense	probably damaging	1.00
IGL02481:Mcm9	APN	10	53625937	missense	probably damaging	1.00
IGL02982:Mcm9	APN	10	53625826	missense	probably damaging	0.99
IGL03300:Mcm9	APN	10	53611427	missense	probably damaging	1.00
R0021:Mcm9	UTSW	10	53537901	missense	possibly damaging	0.94
R0117:Mcm9	UTSW	10	53537736	missense	possibly damaging	0.49
R0137:Mcm9	UTSW	10	53563430	missense	possibly damaging	0.95
R0420:Mcm9	UTSW	10	53548527	missense	probably benign	0.10
R0499:Mcm9	UTSW	10	53538154	missense	probably benign	0.01
R0543:Mcm9	UTSW	10	53541598	missense	probably damaging	0.97
R0947:Mcm9	UTSW	10	53537501	small deletion	probably benign
R0975:Mcm9	UTSW	10	53538646	nonsense	probably null
R1573:Mcm9	UTSW	10	53548656	missense	probably damaging	0.97
R1726:Mcm9	UTSW	10	53537881	missense	possibly damaging	0.67
R1839:Mcm9	UTSW	10	53541553	missense	probably damaging	0.99
R2050:Mcm9	UTSW	10	53612825	critical splice donor site	probably null
R2113:Mcm9	UTSW	10	53615847	splice site	probably null
R2172:Mcm9	UTSW	10	53548574	missense	probably damaging	1.00
R3417:Mcm9	UTSW	10	53537407	missense	possibly damaging	0.83
R3755:Mcm9	UTSW	10	53625952	missense	probably benign	0.08
R3787:Mcm9	UTSW	10	53615980	missense	possibly damaging	0.78
R3789:Mcm9	UTSW	10	53616017	missense	probably damaging	1.00
R3953:Mcm9	UTSW	10	53563344	missense	probably damaging	1.00
R4291:Mcm9	UTSW	10	53547572	missense	probably benign	0.22
R4358:Mcm9	UTSW	10	53537653	missense	probably benign	0.03
R4660:Mcm9	UTSW	10	53548527	missense	probably benign	0.10
R4662:Mcm9	UTSW	10	53548527	missense	probably benign	0.10
R5082:Mcm9	UTSW	10	53538060	missense	possibly damaging	0.94
R5130:Mcm9	UTSW	10	53630399	missense	possibly damaging	0.90
R5193:Mcm9	UTSW	10	53616038	missense	probably damaging	0.99
R5238:Mcm9	UTSW	10	53629997	missense	possibly damaging	0.83
R5317:Mcm9	UTSW	10	53538234	missense	probably damaging	1.00
R5395:Mcm9	UTSW	10	53538692	missense	possibly damaging	0.93
R5524:Mcm9	UTSW	10	53548690	nonsense	probably null
R5593:Mcm9	UTSW	10	53538297	missense	probably damaging	0.99
R5748:Mcm9	UTSW	10	53625729	missense	probably damaging	1.00
R6025:Mcm9	UTSW	10	53615977	missense	possibly damaging	0.93
R6299:Mcm9	UTSW	10	53537681	missense	probably damaging	1.00
R6344:Mcm9	UTSW	10	53537937	missense	probably benign	0.03
R6502:Mcm9	UTSW	10	53612839	missense	probably damaging	1.00
R6621:Mcm9	UTSW	10	53563313	missense	probably damaging	1.00
R6883:Mcm9	UTSW	10	53616014	missense	probably damaging	1.00
R6932:Mcm9	UTSW	10	53620203	missense	probably benign	0.06
R6963:Mcm9	UTSW	10	53548617	missense	probably damaging	1.00
R7094:Mcm9	UTSW	10	53620157	missense	probably damaging	1.00
R7114:Mcm9	UTSW	10	53538573	missense	possibly damaging	0.55
R7200:Mcm9	UTSW	10	53615923	missense
R7593:Mcm9	UTSW	10	53629992	missense	probably benign	0.04
R7671:Mcm9	UTSW	10	53537569	missense	probably benign	0.01
R7697:Mcm9	UTSW	10	53615894	missense
R7997:Mcm9	UTSW	10	53597406	start gained	probably benign
R8136:Mcm9	UTSW	10	53611343	makesense	probably null
R8137:Mcm9	UTSW	10	53622980	missense
R8494:Mcm9	UTSW	10	53625760	missense	possibly damaging	0.48
R8526:Mcm9	UTSW	10	53630125	unclassified	probably benign
Z1176:Mcm9	UTSW	10	53537507	missense	unknown
Z1176:Mcm9	UTSW	10	53629788	frame shift	probably null

Posted On

2013-04-17