Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R0329 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

132658061-132686117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132661914 bp (GRCm39)

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]

AlphaFold

Q9CWV1

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
Abca13	A	T	11: 9,349,430 (GRCm39)	H3668L	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adam28	T	C	14: 68,855,188 (GRCm39)	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,910,070 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,969,416 (GRCm39)		probably benign	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534 (GRCm39)		probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,882,614 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,430,349 (GRCm39)	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,079,135 (GRCm39)	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Crcp	C	A	5: 130,071,083 (GRCm39)	Q61K	possibly damaging	Het
Crppa	C	T	12: 36,431,837 (GRCm39)	A22V	possibly damaging	Het
Dcaf8	T	A	1: 172,014,978 (GRCm39)	D414E	probably benign	Het
Ddx28	T	C	8: 106,736,877 (GRCm39)	T394A	probably benign	Het
Ddx55	T	C	5: 124,697,210 (GRCm39)	F191L	probably benign	Het
Dnaaf1	T	C	8: 120,322,756 (GRCm39)		probably benign	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elf5	A	G	2: 103,260,765 (GRCm39)		probably benign	Het
Emcn	T	A	3: 137,122,575 (GRCm39)		probably benign	Het
Erbb4	T	C	1: 68,337,439 (GRCm39)		probably benign	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Etfdh	T	C	3: 79,517,151 (GRCm39)	I353V	probably benign	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fbxl12	C	T	9: 20,549,776 (GRCm39)	G316D	probably damaging	Het
Gbf1	G	A	19: 46,260,709 (GRCm39)		probably null	Het
Gbp2b	T	G	3: 142,313,937 (GRCm39)	S406A	probably benign	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,531,235 (GRCm39)		probably benign	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,397,927 (GRCm39)	I285T	probably benign	Het
Hrh4	A	G	18: 13,140,302 (GRCm39)		probably benign	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Hspa13	A	T	16: 75,562,018 (GRCm39)	D60E	probably damaging	Het
Htt	T	A	5: 34,974,478 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,750,783 (GRCm39)		probably null	Het
Kif14	G	C	1: 136,423,764 (GRCm39)		probably benign	Het
Kit	T	G	5: 75,813,489 (GRCm39)	V888G	probably damaging	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrriq4	T	C	3: 30,709,873 (GRCm39)	S406P	probably benign	Het
Man2c1	T	C	9: 57,048,467 (GRCm39)	V777A	probably benign	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,830,960 (GRCm39)	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,737,965 (GRCm39)	F11L	probably benign	Het
Nutf2	T	A	8: 106,602,995 (GRCm39)	S37T	probably damaging	Het
Obscn	T	A	11: 58,931,267 (GRCm39)	I5790F	probably damaging	Het
Obscn	A	T	11: 58,943,332 (GRCm39)	D4833E	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7d9	T	A	9: 20,197,153 (GRCm39)	S61T	possibly damaging	Het
Or8g35	T	C	9: 39,381,852 (GRCm39)	T57A	possibly damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcdhb1	A	G	18: 37,400,077 (GRCm39)	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Pdk1	T	C	2: 71,726,018 (GRCm39)		probably benign	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,019,474 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,830 (GRCm39)		probably benign	Het
Prdm5	T	C	6: 65,839,887 (GRCm39)		probably benign	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,307,702 (GRCm39)	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,078,996 (GRCm39)	R218*	probably null	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stat4	A	G	1: 52,130,029 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,829 (GRCm39)	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tgm4	T	C	9: 122,877,622 (GRCm39)		probably null	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Tmem145	A	G	7: 25,008,099 (GRCm39)		probably benign	Het
Tsacc	A	G	3: 88,190,169 (GRCm39)	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,151,264 (GRCm39)	K290R	probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Usp10	T	A	8: 120,663,296 (GRCm39)	C39*	probably null	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,598,439 (GRCm39)	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Wdr27	A	G	17: 15,154,721 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,998,127 (GRCm39)		probably benign	Het
Zcwpw2	C	A	9: 117,843,123 (GRCm39)		noncoding transcript	Het
Zdhhc1	C	A	8: 106,210,175 (GRCm39)	A81S	probably benign	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	Het

Other mutations in Mcm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Mcm8	APN	2	132,669,457 (GRCm39)	missense	probably benign
IGL00479:Mcm8	APN	2	132,659,094 (GRCm39)	missense	probably benign
IGL00573:Mcm8	APN	2	132,674,732 (GRCm39)	missense	possibly damaging	0.94
IGL00847:Mcm8	APN	2	132,661,594 (GRCm39)	missense	probably benign	0.29
IGL00978:Mcm8	APN	2	132,663,326 (GRCm39)	missense	probably benign
IGL01390:Mcm8	APN	2	132,679,998 (GRCm39)	splice site	probably benign
IGL01785:Mcm8	APN	2	132,669,868 (GRCm39)	missense	probably benign	0.05
IGL01786:Mcm8	APN	2	132,669,868 (GRCm39)	missense	probably benign	0.05
IGL02216:Mcm8	APN	2	132,681,449 (GRCm39)	missense	probably damaging	1.00
IGL03191:Mcm8	APN	2	132,663,362 (GRCm39)	missense	possibly damaging	0.68
madamina	UTSW	2	132,674,774 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Mcm8	UTSW	2	132,659,097 (GRCm39)	missense	possibly damaging	0.54
R0330:Mcm8	UTSW	2	132,661,914 (GRCm39)	missense	possibly damaging	0.64
R1520:Mcm8	UTSW	2	132,681,375 (GRCm39)	missense	probably benign	0.39
R1771:Mcm8	UTSW	2	132,685,476 (GRCm39)	nonsense	probably null
R1967:Mcm8	UTSW	2	132,684,662 (GRCm39)	missense	probably benign
R2228:Mcm8	UTSW	2	132,662,041 (GRCm39)	missense	possibly damaging	0.85
R2418:Mcm8	UTSW	2	132,666,658 (GRCm39)	missense	probably benign
R4728:Mcm8	UTSW	2	132,674,774 (GRCm39)	missense	probably damaging	1.00
R4827:Mcm8	UTSW	2	132,665,174 (GRCm39)	missense	probably damaging	0.99
R4847:Mcm8	UTSW	2	132,661,923 (GRCm39)	missense	probably benign	0.01
R4928:Mcm8	UTSW	2	132,681,399 (GRCm39)	missense	probably benign	0.00
R4932:Mcm8	UTSW	2	132,680,629 (GRCm39)	missense	probably benign	0.09
R4962:Mcm8	UTSW	2	132,680,689 (GRCm39)	missense	probably damaging	1.00
R6044:Mcm8	UTSW	2	132,673,600 (GRCm39)	critical splice donor site	probably null
R6081:Mcm8	UTSW	2	132,670,003 (GRCm39)	missense	probably benign	0.00
R6650:Mcm8	UTSW	2	132,663,327 (GRCm39)	missense	probably benign	0.01
R6685:Mcm8	UTSW	2	132,684,570 (GRCm39)	missense	probably damaging	1.00
R7006:Mcm8	UTSW	2	132,665,181 (GRCm39)	missense	probably damaging	1.00
R7176:Mcm8	UTSW	2	132,661,992 (GRCm39)	missense	probably benign	0.01
R7328:Mcm8	UTSW	2	132,674,777 (GRCm39)	missense	probably benign	0.28
R7486:Mcm8	UTSW	2	132,681,440 (GRCm39)	missense	probably damaging	1.00
R7631:Mcm8	UTSW	2	132,669,963 (GRCm39)	missense	not run
R7664:Mcm8	UTSW	2	132,685,453 (GRCm39)	missense	probably damaging	0.96
R7820:Mcm8	UTSW	2	132,682,692 (GRCm39)	missense	possibly damaging	0.68
R8090:Mcm8	UTSW	2	132,673,569 (GRCm39)	missense	probably benign	0.30
R8228:Mcm8	UTSW	2	132,684,714 (GRCm39)	critical splice donor site	probably null
R8738:Mcm8	UTSW	2	132,665,141 (GRCm39)	missense	probably benign
Z1176:Mcm8	UTSW	2	132,669,487 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2013-08-08