Mutagenetix > Incidental Mutation

Incidental Mutation 'R8081:Mcm6'

629318

Institutional Source

Beutler Lab

Gene Symbol

Mcm6

Ensembl Gene

ENSMUSG00000026355

Gene Name

minichromosome maintenance complex component 6

Synonyms

D1Wsu22e, Mcmd6

MMRRC Submission

067514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128259327-128287401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128265905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 622 (E622G)

Ref Sequence

ENSEMBL: ENSMUSP00000027601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027601] [ENSMUST00000190495]

AlphaFold

P97311

Predicted Effect

probably damaging
Transcript: ENSMUST00000027601
AA Change: E622G

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

SMART Domains

Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355
AA Change: E622G

Domain	Start	End	E-Value	Type
MCM	119	657	1.43e-270	SMART
PDB:2LE8\|A	710	821	1e-47	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000190495
AA Change: E622G

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

SMART Domains

Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355
AA Change: E622G

Domain	Start	End	E-Value	Type
MCM	119	657	1.43e-270	SMART
PDB:2LE8\|A	710	783	3e-29	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 95.7%

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 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 MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,313 (GRCm39)	E119V	probably damaging	Het
Adamts2	A	T	11: 50,668,004 (GRCm39)	D522V	probably damaging	Het
Agtpbp1	A	T	13: 59,676,221 (GRCm39)	L183*	probably null	Het
Arhgap10	T	C	8: 78,109,375 (GRCm39)	I403V	possibly damaging	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Cdhr1	C	T	14: 36,815,967 (GRCm39)	V144I	probably benign	Het
Cdk20	A	G	13: 64,586,766 (GRCm39)	I339V	probably benign	Het
Ceacam13	A	G	7: 17,747,113 (GRCm39)	K189E	probably damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cgrrf1	A	G	14: 47,091,468 (GRCm39)	T331A	probably benign	Het
Cntn4	G	A	6: 106,651,568 (GRCm39)	V706I	possibly damaging	Het
Csrnp2	T	C	15: 100,387,462 (GRCm39)	D2G	probably damaging	Het
Cux2	A	G	5: 122,007,519 (GRCm39)	I714T	probably benign	Het
Cx3cr1	C	T	9: 119,880,878 (GRCm39)	E175K	possibly damaging	Het
Dennd1c	G	A	17: 57,381,139 (GRCm39)	P163L	possibly damaging	Het
Dhtkd1	C	T	2: 5,928,919 (GRCm39)	E251K	probably damaging	Het
Epas1	C	T	17: 87,136,797 (GRCm39)	P787S	probably benign	Het
Epha2	T	C	4: 141,049,605 (GRCm39)	V737A	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcsk	T	A	8: 111,615,783 (GRCm39)	R515S	probably benign	Het
Fscb	A	T	12: 64,518,802 (GRCm39)	M888K	unknown	Het
Gldc	ACGACC	AC	19: 30,135,987 (GRCm39)		probably null	Het
Gm14443	A	T	2: 175,012,238 (GRCm39)	C69*	probably null	Het
Gm19668	G	A	10: 77,634,420 (GRCm39)	A183V	unknown	Het
Gm49368	A	G	7: 127,726,280 (GRCm39)	R1231G	unknown	Het
Grin2c	T	C	11: 115,140,719 (GRCm39)	Y1133C	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hydin	T	C	8: 111,092,101 (GRCm39)	S425P	possibly damaging	Het
Ifnl3	T	C	7: 28,223,682 (GRCm39)	S173P	probably damaging	Het
Igkv4-63	A	T	6: 69,355,018 (GRCm39)	S88T	possibly damaging	Het
Klhl5	C	A	5: 65,320,268 (GRCm39)	N607K	possibly damaging	Het
Lag3	A	T	6: 124,882,410 (GRCm39)	L362*	probably null	Het
Lats2	C	A	14: 57,937,968 (GRCm39)	G174C	probably damaging	Het
Med13l	C	A	5: 118,866,333 (GRCm39)	H462Q	probably damaging	Het
Mrpl53	T	A	6: 83,086,159 (GRCm39)	F23I	probably damaging	Het
Muc5b	T	G	7: 141,417,743 (GRCm39)	I3563S	possibly damaging	Het
Myo16	A	C	8: 10,372,743 (GRCm39)	L147F	unknown	Het
Npc1l1	G	C	11: 6,167,768 (GRCm39)	Q1008E	probably benign	Het
Npy4r	A	G	14: 33,868,524 (GRCm39)	S255P	probably damaging	Het
Nup210	T	C	6: 91,053,657 (GRCm39)	N287D	probably benign	Het
Opn3	T	A	1: 175,493,135 (GRCm39)	H143L	probably damaging	Het
Or12e7	G	T	2: 87,287,513 (GRCm39)	M1I	probably null	Het
Or12j3	A	T	7: 139,952,972 (GRCm39)	L184M	probably damaging	Het
Or12j5	A	T	7: 140,084,369 (GRCm39)	M1K	probably null	Het
Or4k2	T	A	14: 50,423,825 (GRCm39)	N284I	probably damaging	Het
Or5ap2b-ps1	C	T	2: 85,693,839 (GRCm39)	P28L	probably damaging	Het
Pdcd7	C	T	9: 65,253,967 (GRCm39)	R182C	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Picalm	T	A	7: 89,840,451 (GRCm39)	L540*	probably null	Het
Ppp1r21	T	A	17: 88,866,272 (GRCm39)	I356N	probably damaging	Het
Rgs6	C	T	12: 83,094,347 (GRCm39)	Q67*	probably null	Het
Ripor2	C	A	13: 24,897,683 (GRCm39)	Q794K	probably benign	Het
Rnf216	A	T	5: 143,013,719 (GRCm39)	I702N	probably damaging	Het
Robo4	T	C	9: 37,316,936 (GRCm39)	L417P	probably damaging	Het
Samhd1	A	T	2: 156,943,358 (GRCm39)	C605*	probably null	Het
Scaper	C	T	9: 55,823,330 (GRCm39)	G22D	unknown	Het
Senp5	T	C	16: 31,784,577 (GRCm39)	T692A	probably damaging	Het
Six6	G	T	12: 72,986,875 (GRCm39)	G16W	probably damaging	Het
Slc38a8	A	T	8: 120,212,269 (GRCm39)	M358K	possibly damaging	Het
Snx2	T	C	18: 53,349,459 (GRCm39)	F407L	probably benign	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
Syk	A	T	13: 52,792,195 (GRCm39)	M429L	probably benign	Het
Tln2	T	A	9: 67,264,029 (GRCm39)	N537Y	probably damaging	Het
Usp29	T	A	7: 6,966,629 (GRCm39)	M824K	probably benign	Het
Utrn	A	G	10: 12,423,803 (GRCm39)		probably benign	Het
Wdr37	C	T	13: 8,885,406 (GRCm39)	D346N	probably damaging	Het
Zfpm2	T	A	15: 40,965,644 (GRCm39)	C710S	probably damaging	Het

Other mutations in Mcm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Mcm6	APN	1	128,272,120 (GRCm39)	missense	probably damaging	1.00
IGL01420:Mcm6	APN	1	128,273,612 (GRCm39)	missense	probably damaging	1.00
IGL01746:Mcm6	APN	1	128,281,261 (GRCm39)	nonsense	probably null
IGL02256:Mcm6	APN	1	128,263,465 (GRCm39)	critical splice donor site	probably null
IGL02624:Mcm6	APN	1	128,277,185 (GRCm39)	missense	possibly damaging	0.91
IGL02732:Mcm6	APN	1	128,287,227 (GRCm39)	missense	probably benign	0.16
IGL02750:Mcm6	APN	1	128,271,209 (GRCm39)	missense	probably damaging	1.00
IGL02926:Mcm6	APN	1	128,267,119 (GRCm39)	missense	probably damaging	1.00
IGL03189:Mcm6	APN	1	128,272,039 (GRCm39)	missense	probably damaging	1.00
IGL03238:Mcm6	APN	1	128,283,257 (GRCm39)	missense	probably benign	0.13
IGL03397:Mcm6	APN	1	128,272,039 (GRCm39)	missense	probably damaging	1.00
R0453:Mcm6	UTSW	1	128,261,292 (GRCm39)	missense	probably benign	0.00
R0501:Mcm6	UTSW	1	128,283,373 (GRCm39)	missense	probably benign	0.03
R0885:Mcm6	UTSW	1	128,276,670 (GRCm39)	missense	probably benign	0.00
R1013:Mcm6	UTSW	1	128,276,778 (GRCm39)	missense	probably benign
R1319:Mcm6	UTSW	1	128,276,789 (GRCm39)	missense	probably benign
R1396:Mcm6	UTSW	1	128,279,213 (GRCm39)	missense	probably damaging	1.00
R1656:Mcm6	UTSW	1	128,277,155 (GRCm39)	missense	possibly damaging	0.90
R1891:Mcm6	UTSW	1	128,263,547 (GRCm39)	missense	probably damaging	1.00
R1950:Mcm6	UTSW	1	128,273,726 (GRCm39)	missense	probably benign	0.35
R3411:Mcm6	UTSW	1	128,279,322 (GRCm39)	missense	probably benign	0.35
R4564:Mcm6	UTSW	1	128,271,196 (GRCm39)	missense	probably damaging	1.00
R4626:Mcm6	UTSW	1	128,279,285 (GRCm39)	missense	probably benign	0.01
R4627:Mcm6	UTSW	1	128,279,285 (GRCm39)	missense	probably benign	0.01
R4628:Mcm6	UTSW	1	128,279,285 (GRCm39)	missense	probably benign	0.01
R4916:Mcm6	UTSW	1	128,276,714 (GRCm39)	missense	probably damaging	1.00
R4965:Mcm6	UTSW	1	128,287,223 (GRCm39)	missense	probably damaging	1.00
R4967:Mcm6	UTSW	1	128,263,586 (GRCm39)	missense	probably damaging	1.00
R5016:Mcm6	UTSW	1	128,271,164 (GRCm39)	missense	probably damaging	1.00
R5204:Mcm6	UTSW	1	128,261,375 (GRCm39)	missense	probably benign	0.01
R5229:Mcm6	UTSW	1	128,261,321 (GRCm39)	missense	possibly damaging	0.82
R5607:Mcm6	UTSW	1	128,283,326 (GRCm39)	missense	probably damaging	1.00
R5811:Mcm6	UTSW	1	128,263,465 (GRCm39)	critical splice donor site	probably benign
R5816:Mcm6	UTSW	1	128,276,192 (GRCm39)	missense	probably benign	0.01
R7204:Mcm6	UTSW	1	128,265,864 (GRCm39)	missense	probably damaging	1.00
R7316:Mcm6	UTSW	1	128,287,245 (GRCm39)	missense	probably damaging	1.00
R8546:Mcm6	UTSW	1	128,273,685 (GRCm39)	missense	possibly damaging	0.91
R8547:Mcm6	UTSW	1	128,273,685 (GRCm39)	missense	possibly damaging	0.91
R8549:Mcm6	UTSW	1	128,273,685 (GRCm39)	missense	possibly damaging	0.91
R8785:Mcm6	UTSW	1	128,262,535 (GRCm39)	missense	probably benign	0.15
R8878:Mcm6	UTSW	1	128,283,248 (GRCm39)	critical splice donor site	probably null
R9043:Mcm6	UTSW	1	128,271,231 (GRCm39)	missense	probably damaging	1.00
R9253:Mcm6	UTSW	1	128,279,264 (GRCm39)	missense	probably damaging	1.00
Z1088:Mcm6	UTSW	1	128,272,035 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTATTAGTCTAGACAGCATACC -3'
(R):5'- GCCCTCTGTTTCCTGGAGTG -3'

Sequencing Primer
(F):5'- CCTATGATAGCAACCTTTTTACTGGG -3'
(R):5'- GGAGTGCTTCCATCCAGG -3'

Posted On

2020-06-30