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

9030408O17Rik, Mcmdc1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53412411-53506535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53506088 bp (GRCm39)

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: 64,055,774 (GRCm39)	A170V	probably damaging	Het
Acp6	A	T	3: 97,073,266 (GRCm39)	E102D	probably benign	Het
Acss1	T	A	2: 150,461,688 (GRCm39)	R632*	probably null	Het
Adamtsl1	G	T	4: 86,259,450 (GRCm39)	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,487,095 (GRCm39)	Y91*	probably null	Het
Arhgap35	A	T	7: 16,298,786 (GRCm39)	I93N	probably damaging	Het
Asic2	A	T	11: 81,858,657 (GRCm39)	D118E	probably benign	Het
Asprv1	G	T	6: 86,605,762 (GRCm39)	V203L	probably damaging	Het
Atad2b	G	A	12: 5,081,726 (GRCm39)	D1212N	probably benign	Het
Atp4a	A	G	7: 30,424,105 (GRCm39)	I960V	probably benign	Het
Bin1	G	T	18: 32,552,932 (GRCm39)	E186*	probably null	Het
Bmp10	A	G	6: 87,410,651 (GRCm39)	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,310,137 (GRCm39)	D246V	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,261 (GRCm39)	D81V	probably damaging	Het
Cep162	A	T	9: 87,086,250 (GRCm39)	S1025T	probably benign	Het
Cidea	A	G	18: 67,493,283 (GRCm39)	I101V	probably benign	Het
Clock	G	A	5: 76,384,145 (GRCm39)	S478L	possibly damaging	Het
Cp	T	A	3: 20,020,494 (GRCm39)	N162K	probably benign	Het
Crb1	C	T	1: 139,164,978 (GRCm39)	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 25,780,416 (GRCm39)	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,172,429 (GRCm39)	S580P	possibly damaging	Het
Dars2	T	C	1: 160,885,113 (GRCm39)	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,244,941 (GRCm39)	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,433,193 (GRCm39)	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,407,244 (GRCm39)	F432L	probably damaging	Het
Dnah10	T	C	5: 124,823,608 (GRCm39)	V543A	probably benign	Het
Eef2k	G	A	7: 120,488,491 (GRCm39)		probably null	Het
Elmo1	A	G	13: 20,474,610 (GRCm39)	M345V	probably benign	Het
Ephb4	A	G	5: 137,359,560 (GRCm39)	M377V	probably benign	Het
Erbb4	C	A	1: 68,293,758 (GRCm39)	R711L	probably damaging	Het
Fads1	A	G	19: 10,162,361 (GRCm39)	E95G	probably damaging	Het
Farsa	G	A	8: 85,594,278 (GRCm39)		probably null	Het
Galntl6	A	G	8: 58,230,293 (GRCm39)	S42P	probably damaging	Het
Gga2	G	A	7: 121,589,672 (GRCm39)	T559M	probably benign	Het
Glipr1l2	G	A	10: 111,928,465 (GRCm39)	G120D	probably damaging	Het
Gm14226	A	T	2: 154,866,114 (GRCm39)	I24L	unknown	Het
Gprc5b	G	T	7: 118,583,492 (GRCm39)	R126S	probably damaging	Het
Gys1	A	G	7: 45,092,360 (GRCm39)	D321G	probably damaging	Het
Hdlbp	C	T	1: 93,358,005 (GRCm39)	A299T	probably benign	Het
Hic2	A	G	16: 17,076,979 (GRCm39)	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,220,524 (GRCm39)	I253N	probably damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Inpp5d	T	A	1: 87,645,500 (GRCm39)	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,828,064 (GRCm39)	A1233T	probably benign	Het
Kif9	A	T	9: 110,350,421 (GRCm39)	T771S	possibly damaging	Het
Klre1	T	A	6: 129,560,150 (GRCm39)	C141S	probably damaging	Het
Lats1	A	G	10: 7,577,476 (GRCm39)	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,829,801 (GRCm39)	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,391,778 (GRCm39)	K1216E	probably benign	Het
Lrrc41	G	A	4: 115,950,141 (GRCm39)	R518H	possibly damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Mmp10	T	G	9: 7,503,154 (GRCm39)	L38R	probably damaging	Het
Mroh8	A	G	2: 157,071,867 (GRCm39)	L546P	probably damaging	Het
Mtcl2	A	T	2: 156,882,776 (GRCm39)	D425E	probably benign	Het
Myt1	T	A	2: 181,439,532 (GRCm39)	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,780,901 (GRCm39)	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955 (GRCm38)	D51G	probably benign	Het
Nme5	A	G	18: 34,700,201 (GRCm39)	I148T	probably benign	Het
Nr2e1	G	A	10: 42,439,475 (GRCm39)	P348L	probably damaging	Het
Nrp2	A	G	1: 62,758,203 (GRCm39)	E63G	probably damaging	Het
Or2d2	A	T	7: 106,727,782 (GRCm39)	S273T	probably damaging	Het
Or51ab3	A	T	7: 103,200,956 (GRCm39)		probably benign	Het
Or52e3	A	G	7: 102,869,471 (GRCm39)	E182G	probably damaging	Het
Or52e5	A	G	7: 104,718,704 (GRCm39)	H10R	probably benign	Het
Or56a3	A	G	7: 104,735,372 (GRCm39)	T150A	probably benign	Het
Pak5	A	G	2: 135,942,884 (GRCm39)	S419P	probably benign	Het
Pfas	C	A	11: 68,881,921 (GRCm39)	M25I		Het
Prdm9	A	G	17: 15,764,867 (GRCm39)	S638P	possibly damaging	Het
Psd	G	A	19: 46,301,352 (GRCm39)	T954I	possibly damaging	Het
Psph	T	C	5: 129,864,337 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,069,593 (GRCm39)	I1517T	probably benign	Het
Rassf8	A	G	6: 145,761,129 (GRCm39)	R152G	probably benign	Het
Rfx3	G	A	19: 27,827,139 (GRCm39)	T149I	probably benign	Het
Rfx8	A	T	1: 39,722,838 (GRCm39)	F260I	probably damaging	Het
Rnft1	C	T	11: 86,384,023 (GRCm39)	Q308*	probably null	Het
Rock2	A	G	12: 17,008,241 (GRCm39)	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305 (GRCm39)	R157G	unknown	Het
Ryr1	A	T	7: 28,735,528 (GRCm39)	N4083K	probably damaging	Het
Scd1	G	T	19: 44,388,739 (GRCm39)	T237N	probably benign	Het
Sema3d	T	C	5: 12,558,112 (GRCm39)	F215L	probably benign	Het
Sema7a	C	T	9: 57,867,858 (GRCm39)	T478I	probably benign	Het
Sftpc	T	C	14: 70,759,623 (GRCm39)	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,662,241 (GRCm39)	T139I	probably damaging	Het
Snx27	T	C	3: 94,410,272 (GRCm39)	E468G	possibly damaging	Het
Snx33	T	C	9: 56,834,058 (GRCm39)	K4E	possibly damaging	Het
Soat1	A	T	1: 156,268,148 (GRCm39)	L253*	probably null	Het
Sycp2l	A	T	13: 41,326,192 (GRCm39)	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,557,664 (GRCm39)	I47N	probably damaging	Het
Tmem82	T	A	4: 141,343,605 (GRCm39)	I222F	probably damaging	Het
Ube2o	A	T	11: 116,471,905 (GRCm39)	L112Q	possibly damaging	Het
Vmn1r204	G	A	13: 22,740,754 (GRCm39)	W128*	probably null	Het
Vmn2r114	A	T	17: 23,510,817 (GRCm39)	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,437,213 (GRCm39)	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,215,312 (GRCm39)	L74*	probably null	Het
Vmp1	T	A	11: 86,477,377 (GRCm39)	Y341F	probably benign	Het
Vps13a	A	T	19: 16,703,027 (GRCm39)	V642D	probably damaging	Het
Vps33a	T	C	5: 123,674,619 (GRCm39)	M383V	probably benign	Het
Vwf	G	A	6: 125,624,731 (GRCm39)	V1827I		Het
Zc3hav1	A	G	6: 38,306,121 (GRCm39)	Y644H	probably benign	Het
Zfp429	A	C	13: 67,538,410 (GRCm39)	C345G	probably damaging	Het
Zfp595	T	C	13: 67,464,823 (GRCm39)	H483R	probably benign	Het
Zfp748	G	T	13: 67,690,638 (GRCm39)	H207Q	probably benign	Het
Zfp758	T	C	17: 22,593,939 (GRCm39)	S142P	probably damaging	Het
Znfx1	A	C	2: 166,898,145 (GRCm39)	S260A	probably benign	Het

Other mutations in Mcm9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Mcm9	APN	10	53,499,069 (GRCm39)	missense	probably damaging	0.97
IGL00904:Mcm9	APN	10	53,499,017 (GRCm39)	missense	possibly damaging	0.89
IGL00943:Mcm9	APN	10	53,424,685 (GRCm39)	missense	probably damaging	1.00
IGL01019:Mcm9	APN	10	53,506,041 (GRCm39)	missense	probably damaging	1.00
IGL02452:Mcm9	APN	10	53,417,653 (GRCm39)	missense	probably damaging	1.00
IGL02481:Mcm9	APN	10	53,502,033 (GRCm39)	missense	probably damaging	1.00
IGL02982:Mcm9	APN	10	53,501,922 (GRCm39)	missense	probably damaging	0.99
IGL03300:Mcm9	APN	10	53,487,523 (GRCm39)	missense	probably damaging	1.00
R0021:Mcm9	UTSW	10	53,413,997 (GRCm39)	missense	possibly damaging	0.94
R0117:Mcm9	UTSW	10	53,413,832 (GRCm39)	missense	possibly damaging	0.49
R0137:Mcm9	UTSW	10	53,439,526 (GRCm39)	missense	possibly damaging	0.95
R0420:Mcm9	UTSW	10	53,424,623 (GRCm39)	missense	probably benign	0.10
R0499:Mcm9	UTSW	10	53,414,250 (GRCm39)	missense	probably benign	0.01
R0543:Mcm9	UTSW	10	53,417,694 (GRCm39)	missense	probably damaging	0.97
R0947:Mcm9	UTSW	10	53,413,597 (GRCm39)	small deletion	probably benign
R0975:Mcm9	UTSW	10	53,414,742 (GRCm39)	nonsense	probably null
R1573:Mcm9	UTSW	10	53,424,752 (GRCm39)	missense	probably damaging	0.97
R1726:Mcm9	UTSW	10	53,413,977 (GRCm39)	missense	possibly damaging	0.67
R1839:Mcm9	UTSW	10	53,417,649 (GRCm39)	missense	probably damaging	0.99
R2050:Mcm9	UTSW	10	53,488,921 (GRCm39)	critical splice donor site	probably null
R2113:Mcm9	UTSW	10	53,491,943 (GRCm39)	splice site	probably null
R2172:Mcm9	UTSW	10	53,424,670 (GRCm39)	missense	probably damaging	1.00
R3417:Mcm9	UTSW	10	53,413,503 (GRCm39)	missense	possibly damaging	0.83
R3755:Mcm9	UTSW	10	53,502,048 (GRCm39)	missense	probably benign	0.08
R3787:Mcm9	UTSW	10	53,492,076 (GRCm39)	missense	possibly damaging	0.78
R3789:Mcm9	UTSW	10	53,492,113 (GRCm39)	missense	probably damaging	1.00
R3953:Mcm9	UTSW	10	53,439,440 (GRCm39)	missense	probably damaging	1.00
R4291:Mcm9	UTSW	10	53,423,668 (GRCm39)	missense	probably benign	0.22
R4358:Mcm9	UTSW	10	53,413,749 (GRCm39)	missense	probably benign	0.03
R4660:Mcm9	UTSW	10	53,424,623 (GRCm39)	missense	probably benign	0.10
R4662:Mcm9	UTSW	10	53,424,623 (GRCm39)	missense	probably benign	0.10
R5082:Mcm9	UTSW	10	53,414,156 (GRCm39)	missense	possibly damaging	0.94
R5130:Mcm9	UTSW	10	53,506,495 (GRCm39)	missense	possibly damaging	0.90
R5193:Mcm9	UTSW	10	53,492,134 (GRCm39)	missense	probably damaging	0.99
R5238:Mcm9	UTSW	10	53,506,093 (GRCm39)	missense	possibly damaging	0.83
R5317:Mcm9	UTSW	10	53,414,330 (GRCm39)	missense	probably damaging	1.00
R5395:Mcm9	UTSW	10	53,414,788 (GRCm39)	missense	possibly damaging	0.93
R5524:Mcm9	UTSW	10	53,424,786 (GRCm39)	nonsense	probably null
R5593:Mcm9	UTSW	10	53,414,393 (GRCm39)	missense	probably damaging	0.99
R5748:Mcm9	UTSW	10	53,501,825 (GRCm39)	missense	probably damaging	1.00
R6025:Mcm9	UTSW	10	53,492,073 (GRCm39)	missense	possibly damaging	0.93
R6299:Mcm9	UTSW	10	53,413,777 (GRCm39)	missense	probably damaging	1.00
R6344:Mcm9	UTSW	10	53,414,033 (GRCm39)	missense	probably benign	0.03
R6502:Mcm9	UTSW	10	53,488,935 (GRCm39)	missense	probably damaging	1.00
R6621:Mcm9	UTSW	10	53,439,409 (GRCm39)	missense	probably damaging	1.00
R6883:Mcm9	UTSW	10	53,492,110 (GRCm39)	missense	probably damaging	1.00
R6932:Mcm9	UTSW	10	53,496,299 (GRCm39)	missense	probably benign	0.06
R6963:Mcm9	UTSW	10	53,424,713 (GRCm39)	missense	probably damaging	1.00
R7094:Mcm9	UTSW	10	53,496,253 (GRCm39)	missense	probably damaging	1.00
R7114:Mcm9	UTSW	10	53,414,669 (GRCm39)	missense	possibly damaging	0.55
R7200:Mcm9	UTSW	10	53,492,019 (GRCm39)	missense
R7671:Mcm9	UTSW	10	53,413,665 (GRCm39)	missense	probably benign	0.01
R7697:Mcm9	UTSW	10	53,491,990 (GRCm39)	missense
R7997:Mcm9	UTSW	10	53,473,502 (GRCm39)	start gained	probably benign
R8136:Mcm9	UTSW	10	53,487,439 (GRCm39)	makesense	probably null
R8137:Mcm9	UTSW	10	53,499,076 (GRCm39)	missense
R8494:Mcm9	UTSW	10	53,501,856 (GRCm39)	missense	possibly damaging	0.48
R8526:Mcm9	UTSW	10	53,506,221 (GRCm39)	unclassified	probably benign
R8558:Mcm9	UTSW	10	53,492,068 (GRCm39)	missense	probably benign	0.07
R8703:Mcm9	UTSW	10	53,506,073 (GRCm39)	missense	probably damaging	0.96
R8836:Mcm9	UTSW	10	53,502,130 (GRCm39)	missense
R8994:Mcm9	UTSW	10	53,424,620 (GRCm39)	missense	probably benign	0.31
R9150:Mcm9	UTSW	10	53,502,110 (GRCm39)	missense
R9564:Mcm9	UTSW	10	53,506,104 (GRCm39)	missense	possibly damaging	0.90
Z1176:Mcm9	UTSW	10	53,505,884 (GRCm39)	frame shift	probably null
Z1176:Mcm9	UTSW	10	53,413,603 (GRCm39)	missense	unknown

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