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

9030408O17Rik, Mcmdc1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

53412411-53506535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53501922 bp (GRCm39)

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: 25,294,447 (GRCm39)	A384D	probably benign	Het
Adamts19	T	A	18: 59,157,590 (GRCm39)	C961S	probably damaging	Het
Agbl2	G	A	2: 90,636,159 (GRCm39)	C565Y	probably damaging	Het
Aox3	G	A	1: 58,166,846 (GRCm39)	E190K	probably benign	Het
Arf2	T	G	11: 103,872,602 (GRCm39)	D74E	probably damaging	Het
Bptf	T	G	11: 106,967,500 (GRCm39)	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Ces1a	A	G	8: 93,771,603 (GRCm39)	F65L	probably damaging	Het
Def8	T	C	8: 124,183,278 (GRCm39)		probably benign	Het
Fat4	T	C	3: 38,944,992 (GRCm39)	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,392,595 (GRCm39)	H1061R	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gldc	A	G	19: 30,122,545 (GRCm39)		probably null	Het
Golgb1	A	C	16: 36,746,172 (GRCm39)	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,607,400 (GRCm39)	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,214,871 (GRCm39)	L252Q	probably damaging	Het
Iars1	C	T	13: 49,863,185 (GRCm39)	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,103,547 (GRCm39)	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,148 (GRCm39)	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,633,376 (GRCm39)	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,766,349 (GRCm39)	H155Q	probably damaging	Het
Myo9a	A	T	9: 59,815,491 (GRCm39)	K2237*	probably null	Het
Ntf3	A	T	6: 126,079,340 (GRCm39)	D55E	probably damaging	Het
Or13a28	A	T	7: 140,217,865 (GRCm39)	I84F	probably benign	Het
Or4c15b	G	T	2: 89,113,453 (GRCm39)	T29K	probably damaging	Het
Plek	T	A	11: 16,931,826 (GRCm39)	I342F	probably damaging	Het
Polrmt	A	G	10: 79,574,182 (GRCm39)	Y853H	probably damaging	Het
Psg29	A	G	7: 16,945,632 (GRCm39)	T401A	probably damaging	Het
Ptprb	A	G	10: 116,158,533 (GRCm39)	T822A	probably benign	Het
Ptprq	A	C	10: 107,422,545 (GRCm39)	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,305,998 (GRCm39)	V19E	probably damaging	Het
Scamp2	G	A	9: 57,488,832 (GRCm39)	A178T	probably benign	Het
Spata31e5	T	C	1: 28,817,135 (GRCm39)	H299R	probably damaging	Het
Spta1	A	G	1: 174,014,854 (GRCm39)	I445V	probably benign	Het
Tas2r135	A	G	6: 42,383,187 (GRCm39)	E242G	probably benign	Het
Ttc22	T	C	4: 106,495,783 (GRCm39)	V379A	probably damaging	Het
Unc5d	C	T	8: 29,142,881 (GRCm39)	G857E	probably damaging	Het
Usp28	A	G	9: 48,929,739 (GRCm39)	I43V	probably benign	Het
Vmn2r68	A	T	7: 84,883,649 (GRCm39)	M152K	probably benign	Het
Wrn	C	T	8: 33,833,094 (GRCm39)	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,310,644 (GRCm39)	T187M	probably damaging	Het
Zic2	A	G	14: 122,715,979 (GRCm39)	E367G	probably 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
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
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

Posted On

2016-08-02