Mutagenetix > Incidental Mutation

Incidental Mutation 'R7593:Mcm9'

587555

Institutional Source

Beutler Lab

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 #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53536315-53630439 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53629992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 62 (R62H)

Ref Sequence

ENSEMBL: ENSMUSP00000074978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000075540] [ENSMUST00000163761] [ENSMUST00000164393] [ENSMUST00000169866] [ENSMUST00000171807] [ENSMUST00000217939] [ENSMUST00000218659] [ENSMUST00000218682] [ENSMUST00000219838]

AlphaFold

Q2KHI9

Predicted Effect

probably benign
Transcript: ENSMUST00000020003

SMART Domains

Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
Pfam:FAM184	57	267	1.5e-84	PFAM
low complexity region	436	449	N/A	INTRINSIC
Blast:HisKA	533	598	4e-6	BLAST
coiled coil region	656	788	N/A	INTRINSIC
internal_repeat_2	795	864	2.49e-6	PROSPERO
internal_repeat_1	800	866	4.75e-7	PROSPERO
coiled coil region	960	983	N/A	INTRINSIC
low complexity region	1101	1113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075540
AA Change: R62H

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: R62H

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: ENSMUST00000163761

SMART Domains

Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
coiled coil region	4	88	N/A	INTRINSIC
internal_repeat_1	99	167	6.86e-8	PROSPERO
internal_repeat_2	105	173	4e-7	PROSPERO
low complexity region	380	393	N/A	INTRINSIC
Blast:HisKA	480	542	5e-6	BLAST
coiled coil region	600	732	N/A	INTRINSIC
internal_repeat_2	739	808	4e-7	PROSPERO
internal_repeat_1	744	810	6.86e-8	PROSPERO
low complexity region	906	916	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164393

Predicted Effect

probably benign
Transcript: ENSMUST00000165986

SMART Domains

Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
coiled coil region	9	40	N/A	INTRINSIC
coiled coil region	102	166	N/A	INTRINSIC
coiled coil region	212	235	N/A	INTRINSIC
low complexity region	354	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169866

SMART Domains

Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
coiled coil region	18	41	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171807

SMART Domains

Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
low complexity region	32	45	N/A	INTRINSIC
Pfam:DUF3090	64	159	5.9e-8	PFAM
low complexity region	303	343	N/A	INTRINSIC
low complexity region	358	364	N/A	INTRINSIC
internal_repeat_1	383	410	4.35e-5	PROSPERO
internal_repeat_1	424	451	4.35e-5	PROSPERO
low complexity region	648	660	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217939

Predicted Effect

probably benign
Transcript: ENSMUST00000218549

Predicted Effect

probably benign
Transcript: ENSMUST00000218659

Predicted Effect

probably benign
Transcript: ENSMUST00000218682

Predicted Effect

probably benign
Transcript: ENSMUST00000218780

Predicted Effect

probably benign
Transcript: ENSMUST00000219838
AA Change: R62H

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,431	A170V	probably damaging	Het
Acp6	A	T	3: 97,165,950	E102D	probably benign	Het
Acss1	T	A	2: 150,619,768	R632*	probably null	Het
Adamtsl1	G	T	4: 86,341,213	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,468,829	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,440,325	Y91*	probably null	Het
Arhgap35	A	T	7: 16,564,861	I93N	probably damaging	Het
Asic2	A	T	11: 81,967,831	D118E	probably benign	Het
Asprv1	G	T	6: 86,628,780	V203L	probably damaging	Het
Atad2b	G	A	12: 5,031,726	D1212N	probably benign	Het
Atp4a	A	G	7: 30,724,680	I960V	probably benign	Het
Bin1	G	T	18: 32,419,879	E186*	probably null	Het
Bmp10	A	G	6: 87,433,669	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,280,655	D246V	probably damaging	Het
Cdc16	A	G	8: 13,777,605	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,175	D81V	probably damaging	Het
Cep162	A	T	9: 87,204,197	S1025T	probably benign	Het
Cidea	A	G	18: 67,360,213	I101V	probably benign	Het
Clock	G	A	5: 76,236,298	S478L	possibly damaging	Het
Cp	T	A	3: 19,966,330	N162K	probably benign	Het
Crb1	C	T	1: 139,237,240	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 26,080,991	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,195,494	S580P	possibly damaging	Het
Dars2	T	C	1: 161,057,543	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,424,578	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,126,198	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,499,928	F432L	probably damaging	Het
Dnah10	T	C	5: 124,746,544	V543A	probably benign	Het
Eef2k	G	A	7: 120,889,268		probably null	Het
Elmo1	A	G	13: 20,290,440	M345V	probably benign	Het
Ephb4	A	G	5: 137,361,298	M377V	probably benign	Het
Erbb4	C	A	1: 68,254,599	R711L	probably damaging	Het
Fads1	A	G	19: 10,184,997	E95G	probably damaging	Het
Farsa	G	A	8: 84,867,649		probably null	Het
Galntl6	A	G	8: 57,777,259	S42P	probably damaging	Het
Gga2	G	A	7: 121,990,449	T559M	probably benign	Het
Glipr1l2	G	A	10: 112,092,560	G120D	probably damaging	Het
Gm14226	A	T	2: 155,024,194	I24L	unknown	Het
Gprc5b	G	T	7: 118,984,269	R126S	probably damaging	Het
Gys1	A	G	7: 45,442,936	D321G	probably damaging	Het
Hdlbp	C	T	1: 93,430,283	A299T	probably benign	Het
Hic2	A	G	16: 17,259,115	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,243,544	I253N	probably damaging	Het
Iglon5	A	T	7: 43,476,640	D222E	probably benign	Het
Inpp5d	T	A	1: 87,717,778	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,943,861	A1233T	probably benign	Het
Kif9	A	T	9: 110,521,353	T771S	possibly damaging	Het
Klre1	T	A	6: 129,583,187	C141S	probably damaging	Het
Lats1	A	G	10: 7,701,712	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,999,456	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,500,952	K1216E	probably benign	Het
Lrrc41	G	A	4: 116,092,944	R518H	possibly damaging	Het
Lrrk1	A	G	7: 66,308,691	V320A	probably benign	Het
Mmp10	T	G	9: 7,503,153	L38R	probably damaging	Het
Mroh8	A	G	2: 157,229,947	L546P	probably damaging	Het
Myt1	T	A	2: 181,797,739	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,647,848	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955	D51G	probably benign	Het
Nme5	A	G	18: 34,567,148	I148T	probably benign	Het
Nr2e1	G	A	10: 42,563,479	P348L	probably damaging	Het
Nrp2	A	G	1: 62,719,044	E63G	probably damaging	Het
Olfr594	A	G	7: 103,220,264	E182G	probably damaging	Het
Olfr613	A	T	7: 103,551,749		probably benign	Het
Olfr678	A	G	7: 105,069,497	H10R	probably benign	Het
Olfr679	A	G	7: 105,086,165	T150A	probably benign	Het
Olfr715	A	T	7: 107,128,575	S273T	probably damaging	Het
Pak7	A	G	2: 136,100,964	S419P	probably benign	Het
Pfas	C	A	11: 68,991,095	M25I		Het
Prdm9	A	G	17: 15,544,605	S638P	possibly damaging	Het
Psd	G	A	19: 46,312,913	T954I	possibly damaging	Het
Psph	T	C	5: 129,787,273		probably benign	Het
Ptprf	A	G	4: 118,212,396	I1517T	probably benign	Het
Rassf8	A	G	6: 145,815,403	R152G	probably benign	Het
Rfx3	G	A	19: 27,849,739	T149I	probably benign	Het
Rfx8	A	T	1: 39,683,678	F260I	probably damaging	Het
Rnft1	C	T	11: 86,493,197	Q308*	probably null	Het
Rock2	A	G	12: 16,958,240	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305	R157G	unknown	Het
Ryr1	A	T	7: 29,036,103	N4083K	probably damaging	Het
Scd1	G	T	19: 44,400,300	T237N	probably benign	Het
Sema3d	T	C	5: 12,508,145	F215L	probably benign	Het
Sema7a	C	T	9: 57,960,575	T478I	probably benign	Het
Sftpc	T	C	14: 70,522,183	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,209,204	T139I	probably damaging	Het
Snx27	T	C	3: 94,502,965	E468G	possibly damaging	Het
Snx33	T	C	9: 56,926,774	K4E	possibly damaging	Het
Soat1	A	T	1: 156,440,578	L253*	probably null	Het
Soga1	A	T	2: 157,040,856	D425E	probably benign	Het
Sycp2l	A	T	13: 41,172,716	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,510,890	I47N	probably damaging	Het
Tmem82	T	A	4: 141,616,294	I222F	probably damaging	Het
Ube2o	A	T	11: 116,581,079	L112Q	possibly damaging	Het
Vmn1r204	G	A	13: 22,556,584	W128*	probably null	Het
Vmn2r114	A	T	17: 23,291,843	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,787,789	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,566,104	L74*	probably null	Het
Vmp1	T	A	11: 86,586,551	Y341F	probably benign	Het
Vps13a	A	T	19: 16,725,663	V642D	probably damaging	Het
Vps33a	T	C	5: 123,536,556	M383V	probably benign	Het
Vwf	G	A	6: 125,647,768	V1827I		Het
Zc3hav1	A	G	6: 38,329,186	Y644H	probably benign	Het
Zfp429	A	C	13: 67,390,291	C345G	probably damaging	Het
Zfp595	T	C	13: 67,316,759	H483R	probably benign	Het
Zfp748	G	T	13: 67,542,519	H207Q	probably benign	Het
Zfp758	T	C	17: 22,374,958	S142P	probably damaging	Het
Znfx1	A	C	2: 167,056,225	S260A	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
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
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
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'- TCAACACGCACTGTCTTGGTC -3'
(R):5'- CAGCCTGAATTATCCACTTCAC -3'

Sequencing Primer
(F):5'- ACTGTCTTGGTCGCCGG -3'
(R):5'- TGAATTATCCACTTCACCCTAAACC -3'

Posted On

2019-10-24