Mutagenetix > Incidental Mutation

Incidental Mutation 'R4728:Mcm8'

358584

Institutional Source

Beutler Lab

Gene Symbol

Mcm8

Ensembl Gene

ENSMUSG00000027353

Gene Name

minichromosome maintenance 8 homologous recombination repair factor

Synonyms

5730432L01Rik

MMRRC Submission

042020-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R4728 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132658061-132686117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132674774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 414 (H414R)

Ref Sequence

ENSEMBL: ENSMUSP00000066842 (fasta)

Gene Model

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

AlphaFold

Q9CWV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028831
AA Change: H442R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: H442R

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 damaging
Transcript: ENSMUST00000066559
AA Change: H414R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: H414R

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

Meta Mutation Damage Score

0.9649

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

94% (73/78)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicc1	C	T	10: 70,771,661 (GRCm39)		probably null	Het
Bpifc	T	A	10: 85,827,063 (GRCm39)	H162L	possibly damaging	Het
Ccdc163	C	T	4: 116,566,209 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cyth4	G	A	15: 78,486,913 (GRCm39)	G14R	probably benign	Het
Ddhd2	C	T	8: 26,242,294 (GRCm39)	V194I	probably damaging	Het
Ddx23	A	T	15: 98,548,106 (GRCm39)	V433E	probably damaging	Het
Defb34	A	G	8: 19,176,434 (GRCm39)	N42D	possibly damaging	Het
Dennd6a	A	G	14: 26,348,575 (GRCm39)	E313G	probably null	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Dnah3	T	C	7: 119,658,589 (GRCm39)	E864G	probably damaging	Het
Eps8	G	A	6: 137,486,160 (GRCm39)	Q451*	probably null	Het
Fmo9	A	T	1: 166,490,880 (GRCm39)	Y533N	possibly damaging	Het
Fut8	T	A	12: 77,521,973 (GRCm39)	D537E	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gm9916	A	G	3: 118,228,690 (GRCm39)		noncoding transcript	Het
Grm5	T	A	7: 87,624,496 (GRCm39)	F354L	probably damaging	Het
Hira	C	T	16: 18,741,654 (GRCm39)	A353V	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Igf1r	T	C	7: 67,839,372 (GRCm39)	L628P	probably damaging	Het
Kcnh5	A	T	12: 75,054,555 (GRCm39)	I463N	probably damaging	Het
Kcnh8	C	A	17: 53,032,898 (GRCm39)	Q62K	probably damaging	Het
Kif3c	A	T	12: 3,415,873 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,484,329 (GRCm39)	D353G	possibly damaging	Het
Lrp1	T	C	10: 127,399,606 (GRCm39)	T2301A	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k9	C	T	12: 81,769,147 (GRCm39)	R967Q	probably damaging	Het
Mier1	A	G	4: 102,997,402 (GRCm39)	E145G	probably damaging	Het
Mlc1	A	T	15: 88,862,234 (GRCm39)		probably null	Het
Napb	T	C	2: 148,551,245 (GRCm39)	D96G	probably damaging	Het
Nbas	T	A	12: 13,338,740 (GRCm39)	S193R	probably damaging	Het
Nlrp4a	T	C	7: 26,174,515 (GRCm39)	V967A	probably benign	Het
Nlrp4e	T	A	7: 23,020,989 (GRCm39)	I492K	probably benign	Het
Notch4	A	G	17: 34,789,179 (GRCm39)	T497A	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ogdh	T	A	11: 6,292,549 (GRCm39)	Y417N	probably damaging	Het
Or5w19	T	C	2: 87,698,779 (GRCm39)	V148A	probably benign	Het
Ovol1	A	T	19: 5,603,690 (GRCm39)	Y70*	probably null	Het
P2ry1	A	G	3: 60,911,641 (GRCm39)	Y260C	probably damaging	Het
Pcx	G	T	19: 4,653,124 (GRCm39)	R263L	probably damaging	Het
Pla2g4f	T	A	2: 120,131,402 (GRCm39)	T774S	probably benign	Het
Prdm15	T	G	16: 97,622,986 (GRCm39)	K289Q	probably benign	Het
Prl7c1	A	T	13: 27,960,268 (GRCm39)	H91Q	probably benign	Het
Prmt5	C	T	14: 54,745,364 (GRCm39)	R601H	probably benign	Het
Prrc2b	T	A	2: 32,120,637 (GRCm39)	D2192E	probably damaging	Het
Ptdss2	A	G	7: 140,734,372 (GRCm39)	I299V	probably benign	Het
Rbm28	A	G	6: 29,143,591 (GRCm39)	V354A	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,582,639 (GRCm39)	S35P	probably benign	Het
Serpina3n	A	T	12: 104,375,422 (GRCm39)	T165S	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh2d4b	T	A	14: 40,564,389 (GRCm39)	R267*	probably null	Het
Slc5a12	A	T	2: 110,474,769 (GRCm39)	K554*	probably null	Het
Snrnp200	T	C	2: 127,059,334 (GRCm39)	L409P	probably damaging	Het
Snrnp200	T	A	2: 127,069,798 (GRCm39)	V981E	possibly damaging	Het
Spon2	T	A	5: 33,374,682 (GRCm39)	R41S	probably benign	Het
Sptb	A	T	12: 76,630,153 (GRCm39)	M2279K	probably benign	Het
Srcap	T	G	7: 127,140,096 (GRCm39)		probably null	Het
Tctn3	A	G	19: 40,594,186 (GRCm39)	V409A	probably damaging	Het
Tg	A	C	15: 66,554,676 (GRCm39)	Q697P	probably damaging	Het
Tmem181a	A	G	17: 6,340,874 (GRCm39)	D141G	probably benign	Het
Tmem82	A	G	4: 141,341,963 (GRCm39)	S334P	probably benign	Het
Ubr4	A	G	4: 139,151,190 (GRCm39)	Y1875C	probably damaging	Het
Vmn1r63	C	A	7: 5,806,362 (GRCm39)	R90L	probably damaging	Het
Zfp330	A	C	8: 83,497,475 (GRCm39)	Y56D	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
R0329:Mcm8	UTSW	2	132,661,914 (GRCm39)	missense	possibly damaging	0.64
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
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

PCR Primer
(F):5'- TGCCATACACATGCAGGAGTG -3'
(R):5'- CTAGCTTGAAGTGAAAGTAAGGCC -3'

Sequencing Primer
(F):5'- GCCTTGTGCTGTAGACATCAG -3'
(R):5'- GGCCAGATACACTGTGTATTACTCAC -3'

Posted On

2015-11-11