Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Mcm6'

47076

Institutional Source

Beutler Lab

Gene Symbol

Mcm6

Ensembl Gene

ENSMUSG00000026355

Gene Name

minichromosome maintenance complex component 6

Synonyms

D1Wsu22e, Mcmd6

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128259327-128287401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128283373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 44 (I44T)

Ref Sequence

ENSEMBL: ENSMUSP00000140308 (fasta)

Gene Model

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

AlphaFold

P97311

Predicted Effect

probably benign
Transcript: ENSMUST00000027601
AA Change: I44T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355
AA Change: I44T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190495
AA Change: I44T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355
AA Change: I44T

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: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,216 (GRCm39)	S415P	probably benign	Het
Adam19	C	T	11: 46,013,957 (GRCm39)	P316S	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adcy10	C	T	1: 165,337,959 (GRCm39)	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,707,269 (GRCm39)	Y1379C	probably damaging	Het
Akap9	T	C	5: 4,020,685 (GRCm39)	L1132P	probably damaging	Het
Aoah	A	G	13: 21,189,243 (GRCm39)	T489A	probably benign	Het
Apc2	T	C	10: 80,150,958 (GRCm39)	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,005,616 (GRCm39)	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,374,629 (GRCm39)		noncoding transcript	Het
Cacna1h	A	T	17: 25,607,641 (GRCm39)	V892E	probably damaging	Het
Car4	G	A	11: 84,854,268 (GRCm39)	V72I	probably benign	Het
Cfap91	C	G	16: 38,155,997 (GRCm39)	M75I	probably damaging	Het
Chst3	A	G	10: 60,022,049 (GRCm39)	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,127,411 (GRCm39)	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,595,296 (GRCm39)	D471V	probably damaging	Het
Cntrob	G	A	11: 69,213,694 (GRCm39)	S32F	probably damaging	Het
Cpne7	T	A	8: 123,852,994 (GRCm39)	N200K	possibly damaging	Het
Creb3l3	C	A	10: 80,922,416 (GRCm39)	M271I	probably benign	Het
Csmd1	T	A	8: 17,077,339 (GRCm39)	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 133,896,701 (GRCm39)	T563I	probably damaging	Het
Dmac1	T	G	4: 75,196,413 (GRCm39)	N26H	unknown	Het
Dop1b	T	C	16: 93,549,750 (GRCm39)	F230L	probably benign	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Fabp12	T	C	3: 10,315,203 (GRCm39)	D48G	probably benign	Het
Fbn1	G	A	2: 125,143,669 (GRCm39)	T2820M	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fcho2	A	T	13: 98,901,023 (GRCm39)	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,704,497 (GRCm39)	S470P	probably benign	Het
Gm17541	T	G	12: 4,739,730 (GRCm39)		probably benign	Het
Gm4353	A	T	7: 115,682,706 (GRCm39)	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,220,290 (GRCm39)	I69N	probably damaging	Het
Insrr	G	T	3: 87,717,991 (GRCm39)	A871S	probably benign	Het
Irs2	C	T	8: 11,056,396 (GRCm39)	V679M	probably damaging	Het
Itpr3	T	A	17: 27,326,263 (GRCm39)	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,361,784 (GRCm39)	M1074V	possibly damaging	Het
Kif1a	G	A	1: 92,983,967 (GRCm39)	R602W	probably damaging	Het
Kif21b	A	T	1: 136,090,837 (GRCm39)	D1215V	probably benign	Het
Mapk13	G	A	17: 28,995,327 (GRCm39)	V183M	probably damaging	Het
Mbp	C	T	18: 82,593,322 (GRCm39)	S100F	probably damaging	Het
Ncor1	T	A	11: 62,264,148 (GRCm39)	D418V	possibly damaging	Het
Nid2	T	A	14: 19,839,736 (GRCm39)		probably null	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Or10a5	A	T	7: 106,635,439 (GRCm39)	T26S	probably benign	Het
Or10ak14	C	A	4: 118,611,027 (GRCm39)	C238F	probably benign	Het
Or12e9	A	T	2: 87,201,896 (GRCm39)	R7W	probably damaging	Het
Or13e8	A	C	4: 43,697,079 (GRCm39)	C31W	probably damaging	Het
Or1j1	A	T	2: 36,702,492 (GRCm39)	L204*	probably null	Het
Or2ag1	A	T	7: 106,313,810 (GRCm39)	M26K	probably benign	Het
Or2ag18	G	A	7: 106,405,018 (GRCm39)	S217F	probably damaging	Het
Or4a68	T	C	2: 89,270,060 (GRCm39)	T188A	probably benign	Het
Or4e1	T	A	14: 52,701,383 (GRCm39)	M1L	possibly damaging	Het
Or5d14	A	T	2: 87,880,815 (GRCm39)	I51N	probably damaging	Het
Or5m12	A	G	2: 85,735,348 (GRCm39)	F17L	probably damaging	Het
Or7g35	T	A	9: 19,495,914 (GRCm39)	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,622,978 (GRCm39)	C38S	probably damaging	Het
Pdia4	A	T	6: 47,777,936 (GRCm39)	V352E	probably damaging	Het
Pik3c2a	C	A	7: 115,953,290 (GRCm39)	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,239,846 (GRCm39)	A184E	possibly damaging	Het
Rsph3a	T	A	17: 8,197,952 (GRCm39)	L442*	probably null	Het
Scg2	G	C	1: 79,413,320 (GRCm39)	L468V	probably damaging	Het
Sdk1	A	T	5: 141,923,473 (GRCm39)	I365L	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Skic3	A	C	13: 76,295,925 (GRCm39)	M1063L	probably benign	Het
Slc22a22	T	A	15: 57,113,046 (GRCm39)	T398S	probably benign	Het
Stk11	C	A	10: 79,962,119 (GRCm39)	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,557 (GRCm39)	D222N	probably benign	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Tmem214	G	T	5: 31,029,876 (GRCm39)	R251L	probably damaging	Het
Tmem253	T	A	14: 52,256,036 (GRCm39)	I105N	probably damaging	Het
Toe1	A	G	4: 116,664,682 (GRCm39)	V12A	probably benign	Het
Top1	C	A	2: 160,556,079 (GRCm39)	H513N	probably damaging	Het
Tph1	G	T	7: 46,299,412 (GRCm39)	Y376*	probably null	Het
Trim45	T	A	3: 100,830,535 (GRCm39)	L103Q	probably damaging	Het
Ttn	T	A	2: 76,774,518 (GRCm39)		probably null	Het
Twnk	T	C	19: 44,996,185 (GRCm39)	V206A	probably damaging	Het
Ube2z	A	G	11: 95,941,114 (GRCm39)	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,951,049 (GRCm39)	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,272,581 (GRCm39)	T15S	probably benign	Het
Wdr59	C	T	8: 112,185,579 (GRCm39)	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,036,151 (GRCm39)	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,939,764 (GRCm39)	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,259,236 (GRCm39)	L461P	probably damaging	Het
Zcchc2	T	G	1: 105,943,821 (GRCm39)	F462C	possibly 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
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
R8081:Mcm6	UTSW	1	128,265,905 (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'- AAGTACCTACCCCAGGGGAGAGAT -3'
(R):5'- ACATACTGAATGTGGACTCTGAGCCT -3'

Sequencing Primer
(F):5'- GACCTGCATCAATAGTAACTGTGAC -3'
(R):5'- ATGTGGACTCTGAGCCTAAACTG -3'

Posted On

2013-06-12