Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Mcm8'

663131

Institutional Source

Beutler Lab

Gene Symbol

Mcm8

Ensembl Gene

ENSMUSG00000027353

Gene Name

minichromosome maintenance 8 homologous recombination repair factor

Synonyms

5730432L01Rik

MMRRC Submission

068585-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132658061-132686117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132665141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 206 (T206A)

Ref Sequence

ENSEMBL: ENSMUSP00000028831 (fasta)

Gene Model

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

AlphaFold

Q9CWV1

Predicted Effect

probably benign
Transcript: ENSMUST00000028831
AA Change: T206A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
AA Change: T206A

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: ENSMUST00000066559
AA Change: T178A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
AA Change: T178A

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,196,214 (GRCm39)	T283M	probably damaging	Het
Abca9	A	G	11: 110,056,817 (GRCm39)	M1T	probably null	Het
Ackr1	T	C	1: 173,159,952 (GRCm39)	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,304,264 (GRCm39)	D303G	probably benign	Het
Arfgef2	A	T	2: 166,708,867 (GRCm39)	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,238,414 (GRCm39)	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,306,674 (GRCm39)	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,007,584 (GRCm39)	D495V	probably benign	Het
Brpf3	T	A	17: 29,040,214 (GRCm39)	D878E	probably benign	Het
C3	A	G	17: 57,511,015 (GRCm39)	*1664R	probably null	Het
Cap2	A	G	13: 46,684,548 (GRCm39)	T73A	probably benign	Het
Ccr6	A	T	17: 8,475,394 (GRCm39)	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,274,221 (GRCm39)	G1021R	probably benign	Het
Cidea	C	A	18: 67,499,485 (GRCm39)	S124*	probably null	Het
Cnst	C	A	1: 179,420,274 (GRCm39)	T135K	probably benign	Het
Crebbp	A	T	16: 3,936,952 (GRCm39)	M805K	probably benign	Het
Crybb1	A	G	5: 112,411,439 (GRCm39)	Y119C	probably damaging	Het
Cux1	G	T	5: 136,402,220 (GRCm39)	T121K	probably damaging	Het
Dnah11	A	T	12: 118,049,384 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,900,677 (GRCm39)	T48A	probably damaging	Het
Dysf	G	A	6: 84,171,353 (GRCm39)	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,258,096 (GRCm39)	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429 (GRCm39)	R170S	probably damaging	Het
Gm16686	A	T	4: 88,673,775 (GRCm39)	M18K	unknown	Het
Gm36864	C	T	7: 43,886,304 (GRCm39)	Q179*	probably null	Het
Golgb1	A	G	16: 36,736,675 (GRCm39)	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,324,374 (GRCm39)	L30P	probably damaging	Het
Herc2	A	G	7: 55,798,402 (GRCm39)	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,372,132 (GRCm39)	D37E	probably damaging	Het
Igha	A	G	12: 113,223,144 (GRCm39)	V161A	probably damaging	Het
Isl2	T	G	9: 55,452,722 (GRCm39)	S327A	probably benign	Het
Itk	A	G	11: 46,231,539 (GRCm39)	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,780,648 (GRCm39)	S507P	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,171,034 (GRCm39)	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,243,261 (GRCm39)	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,162,257 (GRCm39)	E159*	probably null	Het
Map3k13	A	G	16: 21,745,008 (GRCm39)	T856A	probably damaging	Het
Megf6	A	G	4: 154,352,436 (GRCm39)	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,202,648 (GRCm39)	Y26H	probably benign	Het
Mug1	T	C	6: 121,817,208 (GRCm39)		probably benign	Het
Mysm1	C	T	4: 94,856,196 (GRCm39)	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,440,216 (GRCm39)	I598L	probably benign	Het
Npas2	A	T	1: 39,331,797 (GRCm39)	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,862,015 (GRCm39)	S85P	probably benign	Het
Nrcam	T	A	12: 44,619,075 (GRCm39)	V868D	possibly damaging	Het
Oas1a	A	G	5: 121,040,019 (GRCm39)	F191L	probably damaging	Het
Or14j8	A	T	17: 38,263,673 (GRCm39)	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778 (GRCm39)	L125H	possibly damaging	Het
Osbpl7	A	G	11: 96,946,903 (GRCm39)	E402G	possibly damaging	Het
Otof	G	A	5: 30,545,968 (GRCm39)	Q462*	probably null	Het
Phlda2	A	C	7: 143,055,959 (GRCm39)	I90S	probably damaging	Het
Plin3	C	T	17: 56,593,490 (GRCm39)	V75I	probably benign	Het
Pms1	A	T	1: 53,321,195 (GRCm39)	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,236,732 (GRCm39)	K504E	probably damaging	Het
Rflna	A	T	5: 125,087,541 (GRCm39)	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,414,805 (GRCm39)	M193L	probably benign	Het
Sema3e	A	T	5: 14,214,169 (GRCm39)	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,271,500 (GRCm39)	N90K	probably damaging	Het
Sfswap	A	G	5: 129,620,345 (GRCm39)	D538G	possibly damaging	Het
Snx14	A	T	9: 88,289,453 (GRCm39)	D266E	possibly damaging	Het
Stat4	C	T	1: 52,115,711 (GRCm39)	T217M	possibly damaging	Het
Taf13	T	C	3: 108,485,444 (GRCm39)	M40T	probably damaging	Het
Tenm4	A	G	7: 96,523,047 (GRCm39)	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 155,007,710 (GRCm39)	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,484,718 (GRCm39)	W60R	probably damaging	Het
Tph2	A	T	10: 115,015,614 (GRCm39)		probably benign	Het
Unc13b	A	T	4: 43,177,564 (GRCm39)	K2797N	unknown	Het
Upf1	C	G	8: 70,785,973 (GRCm39)	M995I	probably benign	Het
Upf1	G	A	8: 70,785,972 (GRCm39)	P996S	probably benign	Het
Vcan	C	T	13: 89,840,439 (GRCm39)	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,077,020 (GRCm39)	D382G	probably benign	Het
Xxylt1	C	T	16: 30,899,964 (GRCm39)	A64T	probably benign	Het
Zcchc8	A	G	5: 123,841,070 (GRCm39)	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,317,187 (GRCm39)	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,931,745 (GRCm39)		probably null	Het
Zfp691	A	G	4: 119,027,861 (GRCm39)	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,089,450 (GRCm39)	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,625,550 (GRCm39)	Q70P	probably benign	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
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
Z1176:Mcm8	UTSW	2	132,669,487 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGACAGCTATATATGGGGTTTAGC -3'
(R):5'- GTGCCTCCTCGGTAAAGAAGAC -3'

Sequencing Primer
(F):5'- GCTATATATGGGGTTTAGCAGTTTTC -3'
(R):5'- AGACAAGAATTAAAGAAGACAGTCG -3'

Posted On

2021-03-08