Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Mcm9'

406595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcm9

Ensembl Gene

ENSMUSG00000058298

Gene Name

minichromosome maintenance 9 homologous recombination repair factor

Synonyms

Mcmdc1, 9030408O17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

53536315-53630439 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53625826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 221 (V221A)

Ref Sequence

ENSEMBL: ENSMUSP00000074978 (fasta)

Gene Model

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

AlphaFold

Q2KHI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000075540
AA Change: V221A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: V221A

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

unknown
Transcript: ENSMUST00000218549
AA Change: V148A

Predicted Effect

probably damaging
Transcript: ENSMUST00000219838
AA Change: V221A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431 (GRCm38)	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518 (GRCm38)	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815 (GRCm38)	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687 (GRCm38)	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776 (GRCm38)	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674 (GRCm38)	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm38)		probably benign	Het
Ces1a	A	G	8: 93,044,975 (GRCm38)	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539 (GRCm38)		probably benign	Het
Fat4	T	C	3: 38,890,843 (GRCm38)	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232 (GRCm38)	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769 (GRCm38)	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145 (GRCm38)		probably null	Het
Gm597	T	C	1: 28,778,054 (GRCm38)	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810 (GRCm38)	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988 (GRCm38)	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859 (GRCm38)	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709 (GRCm38)	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566 (GRCm38)	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149 (GRCm38)	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517 (GRCm38)	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611 (GRCm38)	H155Q	probably damaging	Het
Myo9a	A	T	9: 59,908,208 (GRCm38)	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377 (GRCm38)	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109 (GRCm38)	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952 (GRCm38)	I84F	probably benign	Het
Plek	T	A	11: 16,981,826 (GRCm38)	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348 (GRCm38)	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707 (GRCm38)	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628 (GRCm38)	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684 (GRCm38)	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361 (GRCm38)	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549 (GRCm38)	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288 (GRCm38)	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253 (GRCm38)	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586 (GRCm38)	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853 (GRCm38)	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439 (GRCm38)	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441 (GRCm38)	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066 (GRCm38)	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870 (GRCm38)	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567 (GRCm38)	E367G	probably damaging	Het

Other mutations in Mcm9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Mcm9	APN	10	53,622,973 (GRCm38)	missense	probably damaging	0.97
IGL00904:Mcm9	APN	10	53,622,921 (GRCm38)	missense	possibly damaging	0.89
IGL00943:Mcm9	APN	10	53,548,589 (GRCm38)	missense	probably damaging	1.00
IGL01019:Mcm9	APN	10	53,629,945 (GRCm38)	missense	probably damaging	1.00
IGL02452:Mcm9	APN	10	53,541,557 (GRCm38)	missense	probably damaging	1.00
IGL02481:Mcm9	APN	10	53,625,937 (GRCm38)	missense	probably damaging	1.00
IGL03300:Mcm9	APN	10	53,611,427 (GRCm38)	missense	probably damaging	1.00
R0021:Mcm9	UTSW	10	53,537,901 (GRCm38)	missense	possibly damaging	0.94
R0117:Mcm9	UTSW	10	53,537,736 (GRCm38)	missense	possibly damaging	0.49
R0137:Mcm9	UTSW	10	53,563,430 (GRCm38)	missense	possibly damaging	0.95
R0420:Mcm9	UTSW	10	53,548,527 (GRCm38)	missense	probably benign	0.10
R0499:Mcm9	UTSW	10	53,538,154 (GRCm38)	missense	probably benign	0.01
R0543:Mcm9	UTSW	10	53,541,598 (GRCm38)	missense	probably damaging	0.97
R0947:Mcm9	UTSW	10	53,537,501 (GRCm38)	small deletion	probably benign
R0975:Mcm9	UTSW	10	53,538,646 (GRCm38)	nonsense	probably null
R1573:Mcm9	UTSW	10	53,548,656 (GRCm38)	missense	probably damaging	0.97
R1726:Mcm9	UTSW	10	53,537,881 (GRCm38)	missense	possibly damaging	0.67
R1839:Mcm9	UTSW	10	53,541,553 (GRCm38)	missense	probably damaging	0.99
R2050:Mcm9	UTSW	10	53,612,825 (GRCm38)	critical splice donor site	probably null
R2113:Mcm9	UTSW	10	53,615,847 (GRCm38)	splice site	probably null
R2172:Mcm9	UTSW	10	53,548,574 (GRCm38)	missense	probably damaging	1.00
R3417:Mcm9	UTSW	10	53,537,407 (GRCm38)	missense	possibly damaging	0.83
R3755:Mcm9	UTSW	10	53,625,952 (GRCm38)	missense	probably benign	0.08
R3787:Mcm9	UTSW	10	53,615,980 (GRCm38)	missense	possibly damaging	0.78
R3789:Mcm9	UTSW	10	53,616,017 (GRCm38)	missense	probably damaging	1.00
R3953:Mcm9	UTSW	10	53,563,344 (GRCm38)	missense	probably damaging	1.00
R4291:Mcm9	UTSW	10	53,547,572 (GRCm38)	missense	probably benign	0.22
R4358:Mcm9	UTSW	10	53,537,653 (GRCm38)	missense	probably benign	0.03
R4660:Mcm9	UTSW	10	53,548,527 (GRCm38)	missense	probably benign	0.10
R4662:Mcm9	UTSW	10	53,548,527 (GRCm38)	missense	probably benign	0.10
R5082:Mcm9	UTSW	10	53,538,060 (GRCm38)	missense	possibly damaging	0.94
R5130:Mcm9	UTSW	10	53,630,399 (GRCm38)	missense	possibly damaging	0.90
R5193:Mcm9	UTSW	10	53,616,038 (GRCm38)	missense	probably damaging	0.99
R5238:Mcm9	UTSW	10	53,629,997 (GRCm38)	missense	possibly damaging	0.83
R5317:Mcm9	UTSW	10	53,538,234 (GRCm38)	missense	probably damaging	1.00
R5395:Mcm9	UTSW	10	53,538,692 (GRCm38)	missense	possibly damaging	0.93
R5524:Mcm9	UTSW	10	53,548,690 (GRCm38)	nonsense	probably null
R5593:Mcm9	UTSW	10	53,538,297 (GRCm38)	missense	probably damaging	0.99
R5748:Mcm9	UTSW	10	53,625,729 (GRCm38)	missense	probably damaging	1.00
R6025:Mcm9	UTSW	10	53,615,977 (GRCm38)	missense	possibly damaging	0.93
R6299:Mcm9	UTSW	10	53,537,681 (GRCm38)	missense	probably damaging	1.00
R6344:Mcm9	UTSW	10	53,537,937 (GRCm38)	missense	probably benign	0.03
R6502:Mcm9	UTSW	10	53,612,839 (GRCm38)	missense	probably damaging	1.00
R6621:Mcm9	UTSW	10	53,563,313 (GRCm38)	missense	probably damaging	1.00
R6883:Mcm9	UTSW	10	53,616,014 (GRCm38)	missense	probably damaging	1.00
R6932:Mcm9	UTSW	10	53,620,203 (GRCm38)	missense	probably benign	0.06
R6963:Mcm9	UTSW	10	53,548,617 (GRCm38)	missense	probably damaging	1.00
R7094:Mcm9	UTSW	10	53,620,157 (GRCm38)	missense	probably damaging	1.00
R7114:Mcm9	UTSW	10	53,538,573 (GRCm38)	missense	possibly damaging	0.55
R7200:Mcm9	UTSW	10	53,615,923 (GRCm38)	missense
R7593:Mcm9	UTSW	10	53,629,992 (GRCm38)	missense	probably benign	0.04
R7671:Mcm9	UTSW	10	53,537,569 (GRCm38)	missense	probably benign	0.01
R7697:Mcm9	UTSW	10	53,615,894 (GRCm38)	missense
R7997:Mcm9	UTSW	10	53,597,406 (GRCm38)	start gained	probably benign
R8136:Mcm9	UTSW	10	53,611,343 (GRCm38)	makesense	probably null
R8137:Mcm9	UTSW	10	53,622,980 (GRCm38)	missense
R8494:Mcm9	UTSW	10	53,625,760 (GRCm38)	missense	possibly damaging	0.48
R8526:Mcm9	UTSW	10	53,630,125 (GRCm38)	unclassified	probably benign
R8558:Mcm9	UTSW	10	53,615,972 (GRCm38)	missense	probably benign	0.07
R8703:Mcm9	UTSW	10	53,629,977 (GRCm38)	missense	probably damaging	0.96
R8836:Mcm9	UTSW	10	53,626,034 (GRCm38)	missense
R8994:Mcm9	UTSW	10	53,548,524 (GRCm38)	missense	probably benign	0.31
R9150:Mcm9	UTSW	10	53,626,014 (GRCm38)	missense
R9564:Mcm9	UTSW	10	53,630,008 (GRCm38)	missense	possibly damaging	0.90
Z1176:Mcm9	UTSW	10	53,629,788 (GRCm38)	frame shift	probably null
Z1176:Mcm9	UTSW	10	53,537,507 (GRCm38)	missense	unknown

Posted On

2016-08-02