Mutagenetix > Incidental Mutation

Incidental Mutation 'R1950:Mcm6'

217172

Institutional Source

Beutler Lab

Gene Symbol

Mcm6

Ensembl Gene

ENSMUSG00000026355

Gene Name

minichromosome maintenance complex component 6

Synonyms

D1Wsu22e, Mcmd6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1950 (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 128273726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 368 (V368A)

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: V368A

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355
AA Change: V368A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188755

Predicted Effect

probably benign
Transcript: ENSMUST00000190495
AA Change: V368A

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355
AA Change: V368A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191454

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,010,677 (GRCm39)	N478S	probably damaging	Het
Als2	T	A	1: 59,224,760 (GRCm39)		probably null	Het
Ankfy1	A	G	11: 72,651,155 (GRCm39)	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 123,616,608 (GRCm39)	T2394A	probably damaging	Het
Axin1	G	C	17: 26,412,938 (GRCm39)	G780R	possibly damaging	Het
Carm1	A	T	9: 21,485,812 (GRCm39)	T127S	probably benign	Het
Ccdc73	T	C	2: 104,757,280 (GRCm39)	I81T	probably benign	Het
Cdh12	T	C	15: 21,237,965 (GRCm39)	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,946,819 (GRCm39)	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,511,887 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,968 (GRCm39)	Y426C	probably damaging	Het
Clpp	A	G	17: 57,303,039 (GRCm39)		probably benign	Het
Clrn3	T	G	7: 135,115,813 (GRCm39)	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,774 (GRCm39)	M635R	probably damaging	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 61,043,863 (GRCm39)	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674 (GRCm39)	I154F	probably benign	Het
Dffa	C	A	4: 149,188,839 (GRCm39)	S44R	probably benign	Het
Ehbp1	T	A	11: 22,009,228 (GRCm39)	K930M	probably damaging	Het
Erc2	T	A	14: 27,634,857 (GRCm39)	S473T	probably damaging	Het
Fbxw24	A	T	9: 109,434,481 (GRCm39)	L373H	probably benign	Het
Fer1l4	T	C	2: 155,890,194 (GRCm39)	I244V	probably damaging	Het
Fgfr2	G	A	7: 129,800,211 (GRCm39)	T245M	probably damaging	Het
Garin1b	C	T	6: 29,335,815 (GRCm39)		probably null	Het
Gbp9	T	A	5: 105,229,112 (GRCm39)	M512L	probably benign	Het
Glg1	T	A	8: 111,892,271 (GRCm39)	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,078,141 (GRCm39)	D86G	possibly damaging	Het
Gm5622	T	C	14: 51,893,229 (GRCm39)	V52A	probably benign	Het
Gucy1b1	A	G	3: 81,952,716 (GRCm39)	V239A	probably benign	Het
Gzma	A	G	13: 113,230,463 (GRCm39)	L246P	probably damaging	Het
Hibadh	C	A	6: 52,533,448 (GRCm39)	A223S	probably benign	Het
Hydin	C	A	8: 111,336,619 (GRCm39)	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,721,820 (GRCm39)	N1198S	probably damaging	Het
Ivl	T	C	3: 92,479,420 (GRCm39)	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,701 (GRCm39)	D2037G	possibly damaging	Het
Kcna3	G	A	3: 106,944,988 (GRCm39)	C417Y	probably damaging	Het
Klra2	T	C	6: 131,207,078 (GRCm39)	N177S	probably benign	Het
Llgl2	T	C	11: 115,741,892 (GRCm39)	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,092,649 (GRCm39)	E230G	probably benign	Het
Magel2	C	A	7: 62,028,163 (GRCm39)	Q356K	possibly damaging	Het
Myh8	G	A	11: 67,169,830 (GRCm39)	V50M	possibly damaging	Het
Myrf	A	T	19: 10,195,554 (GRCm39)	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or10ak16	G	A	4: 118,750,537 (GRCm39)	V86M	probably benign	Het
Or52i2	A	G	7: 102,319,684 (GRCm39)	M186V	probably benign	Het
Otud4	G	A	8: 80,372,961 (GRCm39)	R93H	probably damaging	Het
Pank4	T	A	4: 155,056,977 (GRCm39)	M390K	probably benign	Het
Pecam1	A	G	11: 106,576,029 (GRCm39)	V401A	probably damaging	Het
Prdm6	C	A	18: 53,669,796 (GRCm39)	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prpf8	A	G	11: 75,387,337 (GRCm39)	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,435,377 (GRCm39)	I395N	probably benign	Het
Rab27a	G	A	9: 72,982,751 (GRCm39)	G19R	probably damaging	Het
Ramacl	A	G	13: 67,055,269 (GRCm39)		probably benign	Het
Rrp12	A	G	19: 41,881,029 (GRCm39)	V134A	probably damaging	Het
Scly	A	G	1: 91,233,116 (GRCm39)	T76A	probably benign	Het
Scube3	T	C	17: 28,383,274 (GRCm39)	S439P	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,388,233 (GRCm39)	F153S	probably damaging	Het
Slc25a30	T	G	14: 76,007,007 (GRCm39)	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,863,614 (GRCm39)	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Smr2	C	CT	5: 88,256,685 (GRCm39)		probably null	Het
Sp6	T	G	11: 96,912,940 (GRCm39)	S218A	probably benign	Het
Spata21	T	C	4: 140,838,716 (GRCm39)	V589A	probably damaging	Het
Sycp2	T	C	2: 178,044,593 (GRCm39)	I71V	probably benign	Het
Syne2	G	T	12: 75,999,644 (GRCm39)	G2347C	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,906,079 (GRCm39)	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,793,381 (GRCm39)	D216G	probably damaging	Het
Tprg1	T	A	16: 25,136,098 (GRCm39)	S30T	possibly damaging	Het
Trip12	A	T	1: 84,738,522 (GRCm39)	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633 (GRCm39)	L65P	probably damaging	Het
Ush2a	A	T	1: 188,487,382 (GRCm39)	N3050I	probably damaging	Het
Xpot	T	C	10: 121,455,053 (GRCm39)	I30V	probably benign	Het
Zfp944	A	G	17: 22,558,681 (GRCm39)	S189P	probably benign	Het
Zftraf1	A	G	15: 76,543,417 (GRCm39)		probably null	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
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'- TGCAAGCACAGCACAGGTTC -3'
(R):5'- GTACCTGAGCTGTTTAGTTCCCATG -3'

Sequencing Primer
(F):5'- ACAGGTTCCCCGCTGAG -3'
(R):5'- CCCATGTATATGTGTCATACCAAGAG -3'

Posted On

2014-08-01