Mutagenetix > Incidental Mutation

Incidental Mutation 'R5317:Mcm9'

405881

Institutional Source

Beutler Lab

Gene Symbol

Mcm9

Ensembl Gene

ENSMUSG00000058298

Gene Name

minichromosome maintenance 9 homologous recombination repair factor

Synonyms

9030408O17Rik, Mcmdc1

MMRRC Submission

042900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53412411-53506535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53414330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 250 (P250L)

Ref Sequence

ENSEMBL: ENSMUSP00000151956 (fasta)

Gene Model

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

AlphaFold

Q2KHI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000075540
AA Change: P988L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: P988L

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 damaging
Transcript: ENSMUST00000219547
AA Change: P250L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220007
AA Change: P250L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih1	A	C	9: 59,300,619 (GRCm39)	H542Q	probably benign	Het
Ccn4	T	G	15: 66,789,131 (GRCm39)	S206A	probably benign	Het
Cnot8	T	C	11: 58,004,029 (GRCm39)	S155P	probably damaging	Het
Dcc	C	T	18: 71,517,226 (GRCm39)	E810K	possibly damaging	Het
Dmrt2	T	C	19: 25,650,844 (GRCm39)	V10A	probably benign	Het
Dnah17	G	A	11: 118,018,109 (GRCm39)	R129W	possibly damaging	Het
Eif4a3	G	T	11: 119,185,490 (GRCm39)	H117N	probably damaging	Het
Fhip2a	T	A	19: 57,370,141 (GRCm39)		probably null	Het
Gpr179	T	A	11: 97,228,671 (GRCm39)	Q1161H	probably damaging	Het
Grm1	T	G	10: 10,622,443 (GRCm39)	M427L	possibly damaging	Het
Grxcr2	T	A	18: 42,131,916 (GRCm39)	H51L	probably damaging	Het
Il1rn	C	T	2: 24,239,554 (GRCm39)	T150I	probably benign	Het
Kcnc4	C	T	3: 107,366,055 (GRCm39)	R51H	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lrrc37	T	C	11: 103,504,971 (GRCm39)	I2332M	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pan3	T	C	5: 147,480,020 (GRCm39)		probably null	Het
Pcdhgb7	T	A	18: 37,885,887 (GRCm39)	D352E	probably benign	Het
Pdgfa	A	G	5: 138,974,102 (GRCm39)		probably null	Het
Pkhd1	T	C	1: 20,520,528 (GRCm39)	D1938G	probably damaging	Het
Plac8	C	T	5: 100,704,345 (GRCm39)		probably null	Het
Rab11fip3	T	C	17: 26,287,052 (GRCm39)	E367G	possibly damaging	Het
Sgo2a	C	T	1: 58,054,683 (GRCm39)	P289L	probably benign	Het
Slc22a18	T	C	7: 143,052,896 (GRCm39)	Y374H	probably damaging	Het
Slco2a1	T	C	9: 102,956,778 (GRCm39)	V530A	probably benign	Het
Spty2d1	A	T	7: 46,648,049 (GRCm39)	S293R	possibly damaging	Het
Stt3b	G	T	9: 115,081,578 (GRCm39)	Y569*	probably null	Het
Tas2r140	A	G	6: 133,032,543 (GRCm39)	Y72H	probably benign	Het
Usp35	C	T	7: 96,960,846 (GRCm39)	R860H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,557 (GRCm39)	M79K	probably benign	Het
Vsig10l	T	C	7: 43,114,247 (GRCm39)	S190P	probably damaging	Het
Wwc2	C	T	8: 48,300,590 (GRCm39)	D958N	unknown	Het
Zfp318	AAGAAGG	A	17: 46,723,463 (GRCm39)		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
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'- CACCTGAGCAGATTTCCGTC -3'
(R):5'- TCTCCCAATGTGAAAACAACTGAG -3'

Sequencing Primer
(F):5'- ACCTGAGCAGATTTCCGTCTCTTTC -3'
(R):5'- TCCAACAATAAATCTCAGGGCAAGG -3'

Posted On

2016-07-22