Mutagenetix > Incidental Mutations

Incidental Mutation 'R0329:Mcm8'

65086

Institutional Source

Beutler Lab

Gene Symbol

Mcm8

Ensembl Gene

ENSMUSG00000027353

Gene Name

minichromosome maintenance 8 homologous recombination repair factor

Synonyms

5730432L01Rik

MMRRC Submission

038538-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.665) question?

Stock #

R0329 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

132816141-132844197 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132819994 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 83 (K83E)

Ref Sequence

ENSEMBL: ENSMUSP00000066842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028831] [ENSMUST00000039554] [ENSMUST00000066559]

Predicted Effect

probably benign
Transcript: ENSMUST00000028831
AA Change: K111E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: K111E

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	48	62	N/A	INTRINSIC
Blast:MCM	79	155	2e-28	BLAST
MCM	198	742	2.42e-136	SMART
AAA	439	590	5.99e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039554

SMART Domains

Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Gcd10p	20	302	7.2e-74	PFAM
coiled coil region	345	364	N/A	INTRINSIC
low complexity region	444	456	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066559
AA Change: K83E

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: K83E

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:MCM	51	127	2e-28	BLAST
MCM	170	714	2.42e-136	SMART
AAA	411	562	5.99e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147336

Meta Mutation Damage Score

0.1247

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

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 one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility associated with impaired ovarian development and arrested male meiosis, and impaired sensitivity to homologous recombination double-strand break repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551	R72S	probably benign	Het
4931409K22Rik	T	C	5: 24,545,785		probably null	Het
Abca13	A	T	11: 9,399,430	H3668L	probably damaging	Het
Acvr1c	T	C	2: 58,284,838	T313A	probably damaging	Het
Adam28	T	C	14: 68,617,739	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117	L129R	probably benign	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,812,073		probably benign	Het
Bcr	C	T	10: 75,181,634	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534		probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,734,801		probably benign	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,441,910	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,188,309	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Crcp	C	A	5: 130,042,242	Q61K	possibly damaging	Het
Dcaf8	T	A	1: 172,187,411	D414E	probably benign	Het
Ddx28	T	C	8: 106,010,245	T394A	probably benign	Het
Ddx55	T	C	5: 124,559,147	F191L	probably benign	Het
Dnaaf1	T	C	8: 119,596,017		probably benign	Het
Dnaaf2	C	A	12: 69,197,744	R181L	probably damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elf5	A	G	2: 103,430,420		probably benign	Het
Emcn	T	A	3: 137,416,814		probably benign	Het
Erbb4	T	C	1: 68,298,280		probably benign	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Etfdh	T	C	3: 79,609,844	I353V	probably benign	Het
Fam172a	T	A	13: 77,761,951		probably benign	Het
Fbxl12	C	T	9: 20,638,480	G316D	probably damaging	Het
Gbf1	G	A	19: 46,272,270		probably null	Het
Gbp2b	T	G	3: 142,608,176	S406A	probably benign	Het
Gli3	T	G	13: 15,723,558	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,640,409		probably benign	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,259,864	I285T	probably benign	Het
Hrh4	A	G	18: 13,007,245		probably benign	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Hspa13	A	T	16: 75,765,130	D60E	probably damaging	Het
Htt	T	A	5: 34,817,134		probably benign	Het
Ispd	C	T	12: 36,381,838	A22V	possibly damaging	Het
Kif14	G	C	1: 136,496,026		probably benign	Het
Kit	T	G	5: 75,652,829	V888G	probably damaging	Het
Lpin3	T	C	2: 160,905,305	V827A	probably benign	Het
Lrriq4	T	C	3: 30,655,724	S406P	probably benign	Het
Man2c1	T	C	9: 57,141,183	V777A	probably benign	Het
Mep1a	A	G	17: 43,497,898		probably null	Het
Mtor	T	A	4: 148,484,380	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,923,677	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,749,526	F11L	probably benign	Het
Nutf2	T	A	8: 105,876,363	S37T	probably damaging	Het
Obscn	T	A	11: 59,040,441	I5790F	probably damaging	Het
Obscn	A	T	11: 59,052,506	D4833E	probably damaging	Het
Olfr1015	T	A	2: 85,785,803	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989	M182L	probably benign	Het
Olfr39	T	A	9: 20,285,857	S61T	possibly damaging	Het
Olfr955	T	C	9: 39,470,556	T57A	possibly damaging	Het
Pcdhb1	A	G	18: 37,267,024	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Pdk1	T	C	2: 71,895,674		probably benign	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Pidd1	A	T	7: 141,439,561		probably benign	Het
Plec	A	G	15: 76,191,418		probably null	Het
Polr1a	T	A	6: 71,966,416	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,831		probably benign	Het
Prdm5	T	C	6: 65,862,903		probably benign	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,361,976	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,373,235	R218*	probably null	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stat4	A	G	1: 52,090,870		probably benign	Het
Steap4	T	C	5: 7,975,829	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tgm4	T	C	9: 123,048,557		probably null	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Tmem145	A	G	7: 25,308,674		probably benign	Het
Tsacc	A	G	3: 88,282,862	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Ugt2b35	A	G	5: 87,003,405	K290R	probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Usp10	T	A	8: 119,936,557	C39*	probably null	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,691,018	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787	Y245N	possibly damaging	Het
Wdr27	A	G	17: 14,934,459		probably benign	Het
Ythdc2	A	G	18: 44,865,060		probably benign	Het
Zcwpw2	C	A	9: 118,014,055		noncoding transcript	Het
Zdhhc1	C	A	8: 105,483,543	A81S	probably benign	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably damaging	Het

Other mutations in Mcm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Mcm8	APN	2	132827537	missense	probably benign
IGL00479:Mcm8	APN	2	132817174	missense	probably benign
IGL00573:Mcm8	APN	2	132832812	missense	possibly damaging	0.94
IGL00847:Mcm8	APN	2	132819674	missense	probably benign	0.29
IGL00978:Mcm8	APN	2	132821406	missense	probably benign
IGL01390:Mcm8	APN	2	132838078	splice site	probably benign
IGL01785:Mcm8	APN	2	132827948	missense	probably benign	0.05
IGL01786:Mcm8	APN	2	132827948	missense	probably benign	0.05
IGL02216:Mcm8	APN	2	132839529	missense	probably damaging	1.00
IGL03191:Mcm8	APN	2	132821442	missense	possibly damaging	0.68
madamina	UTSW	2	132832854	missense	probably damaging	1.00
PIT4687001:Mcm8	UTSW	2	132817177	missense	possibly damaging	0.54
R0330:Mcm8	UTSW	2	132819994	missense	possibly damaging	0.64
R1520:Mcm8	UTSW	2	132839455	missense	probably benign	0.39
R1771:Mcm8	UTSW	2	132843556	nonsense	probably null
R1967:Mcm8	UTSW	2	132842742	missense	probably benign
R2228:Mcm8	UTSW	2	132820121	missense	possibly damaging	0.85
R2418:Mcm8	UTSW	2	132824738	missense	probably benign
R4728:Mcm8	UTSW	2	132832854	missense	probably damaging	1.00
R4827:Mcm8	UTSW	2	132823254	missense	probably damaging	0.99
R4847:Mcm8	UTSW	2	132820003	missense	probably benign	0.01
R4928:Mcm8	UTSW	2	132839479	missense	probably benign	0.00
R4932:Mcm8	UTSW	2	132838709	missense	probably benign	0.09
R4962:Mcm8	UTSW	2	132838769	missense	probably damaging	1.00
R6044:Mcm8	UTSW	2	132831680	critical splice donor site	probably null
R6081:Mcm8	UTSW	2	132828083	missense	probably benign	0.00
R6650:Mcm8	UTSW	2	132821407	missense	probably benign	0.01
R6685:Mcm8	UTSW	2	132842650	missense	probably damaging	1.00
R7006:Mcm8	UTSW	2	132823261	missense	probably damaging	1.00
R7176:Mcm8	UTSW	2	132820072	missense	probably benign	0.01
R7328:Mcm8	UTSW	2	132832857	missense	probably benign	0.28
R7486:Mcm8	UTSW	2	132839520	missense	probably damaging	1.00
R7631:Mcm8	UTSW	2	132828043	missense	not run
R7664:Mcm8	UTSW	2	132843533	missense	probably damaging	0.96
R7820:Mcm8	UTSW	2	132840772	missense	possibly damaging	0.68
R8090:Mcm8	UTSW	2	132831649	missense	probably benign	0.30
R8228:Mcm8	UTSW	2	132842794	critical splice donor site	probably null
Z1176:Mcm8	UTSW	2	132827567	nonsense	probably null

Predicted Primers

Posted On

2013-08-08