Mutagenetix > Incidental Mutation

Incidental Mutation 'R0947:Mcm9'

81676

Institutional Source

Beutler Lab

Gene Symbol

Mcm9

Ensembl Gene

ENSMUSG00000058298

Gene Name

minichromosome maintenance 9 homologous recombination repair factor

Synonyms

9030408O17Rik, Mcmdc1

MMRRC Submission

039086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0947 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

53412411-53506535 bp(-) (GRCm39)

Type of Mutation

small deletion (3 aa in frame mutation)

DNA Base Change (assembly)

CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC to CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC at 53413597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075540] [ENSMUST00000219547] [ENSMUST00000220007]

AlphaFold

Q2KHI9

Predicted Effect

probably benign
Transcript: ENSMUST00000075540

SMART Domains

Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

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: ENSMUST00000219547

Predicted Effect

probably benign
Transcript: ENSMUST00000220007

Coding Region Coverage

1x: 99.2%
3x: 98.2%
10x: 95.4%
20x: 89.2%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh7a1	A	T	18: 56,693,910 (GRCm39)		probably null	Het
Atm	A	G	9: 53,415,392 (GRCm39)	V833A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,814 (GRCm39)	I180F	probably damaging	Het
Cwf19l2	T	C	9: 3,421,286 (GRCm39)	S188P	probably benign	Het
Gdpd1	T	G	11: 86,928,707 (GRCm39)	E240D	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Htt	T	C	5: 35,056,268 (GRCm39)	S2681P	probably damaging	Het
Itgad	A	G	7: 127,774,865 (GRCm39)	D40G	probably benign	Het
Krt18	A	G	15: 101,939,163 (GRCm39)	Y249C	possibly damaging	Het
Lrp2	G	T	2: 69,318,182 (GRCm39)	P2090T	probably damaging	Het
Lrrc32	A	G	7: 98,148,090 (GRCm39)	D290G	probably benign	Het
Man1a	A	T	10: 53,809,619 (GRCm39)	Y486*	probably null	Het
Nin	A	T	12: 70,107,960 (GRCm39)	C211S	probably damaging	Het
Npat	A	C	9: 53,481,624 (GRCm39)	I1111L	probably benign	Het
Or5p79	A	G	7: 108,221,879 (GRCm39)	I287V	probably benign	Het
Or9i1b	T	A	19: 13,896,535 (GRCm39)	H50Q	probably benign	Het
Pbx1	A	G	1: 168,030,935 (GRCm39)	S228P	probably damaging	Het
Pcsk7	G	T	9: 45,822,470 (GRCm39)	R230L	probably damaging	Het
Prom2	G	T	2: 127,380,183 (GRCm39)	Q350K	possibly damaging	Het
Racgap1	C	T	15: 99,522,195 (GRCm39)	A458T	possibly damaging	Het
Rsf1	T	A	7: 97,318,985 (GRCm39)	C912S	probably damaging	Het
Setd2	G	A	9: 110,377,579 (GRCm39)	E465K	possibly damaging	Het
Sgk2	T	A	2: 162,848,758 (GRCm39)	D269E	probably benign	Het
Spsb1	T	C	4: 149,991,536 (GRCm39)	T11A	probably benign	Het
Tln2	A	T	9: 67,203,095 (GRCm39)	S509T	probably benign	Het
Trim5	A	T	7: 103,914,958 (GRCm39)	D370E	probably damaging	Het
Ttn	T	A	2: 76,715,574 (GRCm39)		probably benign	Het
Ubr2	C	A	17: 47,252,038 (GRCm39)	G1501C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r93	A	T	17: 18,524,343 (GRCm39)	R112S	probably benign	Het
Vps26b	T	C	9: 26,924,077 (GRCm39)	Y222C	probably damaging	Het
Wdr64	T	A	1: 175,603,315 (GRCm39)	Y198N	probably benign	Het
Xrn1	A	T	9: 95,880,316 (GRCm39)	K752I	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp386	T	C	12: 116,023,398 (GRCm39)	I372T	probably benign	Het
Zfp804a	T	C	2: 82,089,062 (GRCm39)	Y964H	possibly damaging	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
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
R7593:Mcm9	UTSW	10	53,506,088 (GRCm39)	missense	probably benign	0.04
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'- AGTGCCACCATCCTGCCATTTG -3'
(R):5'- GGTTTCCTGCGGTAATAAAAGCAGC -3'

Sequencing Primer
(F):5'- caaccaaaaaccaaaaaccaaaaac -3'
(R):5'- GCAGCAAGGTTCATGCTGG -3'

Posted On

2013-11-08