Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Mcm9'

540108

Institutional Source

Beutler Lab

Gene Symbol

Mcm9

Ensembl Gene

ENSMUSG00000058298

Gene Name

minichromosome maintenance 9 homologous recombination repair factor

Synonyms

Mcmdc1, 9030408O17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53536315-53630439 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53620203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 368 (S368P)

Ref Sequence

ENSEMBL: ENSMUSP00000074978 (fasta)

Gene Model

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

AlphaFold

Q2KHI9

Predicted Effect

probably benign
Transcript: ENSMUST00000075540
AA Change: S368P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: S368P

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

probably benign
Transcript: ENSMUST00000219838
AA Change: S368P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	CA	CAA	8: 13,734,865		probably null	Het
Acads	A	T	5: 115,112,272	F198I	probably damaging	Het
Acy1	A	G	9: 106,437,627		probably null	Het
Adk	A	G	14: 21,076,308	M1V	probably null	Het
Ahi1	A	G	10: 20,963,691	D167G	probably benign	Het
Ankrd16	T	C	2: 11,786,243	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,274,417	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,281,951	M673I	probably damaging	Het
BC005624	T	C	2: 30,978,928	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,589,321	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,942,627	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,322,621		probably null	Het
Cep170	G	A	1: 176,761,437	L541F	possibly damaging	Het
Cgrrf1	T	A	14: 46,853,722	N234K	probably benign	Het
Ctrc	C	T	4: 141,841,568	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,298,296	V192M	possibly damaging	Het
Dhx38	A	T	8: 109,552,675	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,287,776	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,821,450	N3765K	possibly damaging	Het
Dnah17	C	A	11: 118,060,079	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,331,336	T306I	probably benign	Het
Efemp2	T	A	19: 5,480,245	C287S	probably damaging	Het
Efna1	T	C	3: 89,272,784	R143G	probably benign	Het
Emilin1	A	C	5: 30,917,077	N221H	probably damaging	Het
Epg5	A	G	18: 77,948,609	T174A	probably benign	Het
Fam184b	T	A	5: 45,532,901		probably null	Het
Fchsd2	T	A	7: 101,277,414	C570*	probably null	Het
Gm4787	A	T	12: 81,379,200	D61E	probably benign	Het
Gm7356	C	T	17: 14,001,663	G35R	probably damaging	Het
Gm8220	A	G	14: 44,288,188	T20A	probably damaging	Het
Hivep2	C	T	10: 14,128,501	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,770,072	V43A	probably damaging	Het
Klhl33	A	T	14: 50,891,916	C619S	probably benign	Het
Kmt2a	A	T	9: 44,829,261		probably benign	Het
Lax1	A	G	1: 133,680,158	C282R	probably benign	Het
Lrrd1	A	G	5: 3,851,395	K567E	probably benign	Het
Luzp1	C	T	4: 136,540,813	R116*	probably null	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Macrod2	A	T	2: 140,419,913	N38I	probably damaging	Het
Map3k14	A	T	11: 103,242,132	I80N	probably damaging	Het
Mfge8	T	C	7: 79,143,301	D139G	probably benign	Het
Mmp19	A	T	10: 128,791,654	I54F	probably benign	Het
Myo15	G	T	11: 60,499,494	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,710,458	V277L	probably benign	Het
Myoc	A	G	1: 162,639,346	D28G	probably damaging	Het
Myrf	G	T	19: 10,219,560	N487K	probably damaging	Het
Olfr1093	C	G	2: 86,786,155	L142V	probably damaging	Het
Olfr429	G	A	1: 174,089,750	A237T	probably damaging	Het
Olfr703	G	T	7: 106,844,802	G64*	probably null	Het
Omd	T	A	13: 49,590,234	F253L	probably damaging	Het
Papss1	T	G	3: 131,599,971	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,562,451	F580Y	probably benign	Het
Polk	T	A	13: 96,516,681	K70N	probably damaging	Het
Ppig	T	A	2: 69,732,411	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,633,292	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,341,558	D783G	probably benign	Het
Reln	T	C	5: 21,985,857	I1511V	probably benign	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Rpia	A	G	6: 70,773,440	V236A	probably benign	Het
Rpl10a	G	T	17: 28,329,450	V80L	probably benign	Het
Sap130	T	G	18: 31,666,354	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,142,793	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,707,434	S470P	probably benign	Het
Slc25a32	A	G	15: 39,097,589	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,717,519	S158P	probably benign	Het
Slc6a2	A	G	8: 92,996,025	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,452,511	T77K	probably benign	Het
Snd1	A	T	6: 28,626,101	D385V	probably benign	Het
Ssh3	A	T	19: 4,264,420	F369I	probably damaging	Het
Syk	A	G	13: 52,612,459		probably null	Het
Tbc1d16	A	G	11: 119,208,916	S211P	probably damaging	Het
Ttc3	A	G	16: 94,443,453	T1439A	probably benign	Het
Usp18	A	G	6: 121,252,514	M31V	probably benign	Het
Vav1	G	T	17: 57,302,330	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,678,075	V1863D	probably benign	Het
Xdh	T	A	17: 73,922,562	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,771,077		probably benign	Het
Zfp345	G	A	2: 150,473,411	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,763,841	V357L	probably benign	Het
Zfp712	A	T	13: 67,040,827	Y545*	probably null	Het
Zgrf1	T	C	3: 127,559,632		probably null	Het

Other mutations in Mcm9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Mcm9	APN	10	53622973	missense	probably damaging	0.97
IGL00904:Mcm9	APN	10	53622921	missense	possibly damaging	0.89
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
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
R8558:Mcm9	UTSW	10	53615972	missense	probably benign	0.07
R8703:Mcm9	UTSW	10	53629977	missense	probably damaging	0.96
R8836:Mcm9	UTSW	10	53626034	missense
R8994:Mcm9	UTSW	10	53548524	missense	probably benign	0.31
R9150:Mcm9	UTSW	10	53626014	missense
R9564:Mcm9	UTSW	10	53630008	missense	possibly damaging	0.90
Z1176:Mcm9	UTSW	10	53537507	missense	unknown
Z1176:Mcm9	UTSW	10	53629788	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TACTCTTGCTGGCTACATACAG -3'
(R):5'- TGAAGTCTGAAGCTGGTATTAGTC -3'

Sequencing Primer
(F):5'- ATCTATAGCCCCAACTGCTGG -3'
(R):5'- TGGAAGCAGTTTCGAGT -3'

Posted On

2018-11-06