Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Mcm4'

574296

Institutional Source

Beutler Lab

Gene Symbol

Mcm4

Ensembl Gene

ENSMUSG00000022673

Gene Name

minichromosome maintenance complex component 4

Synonyms

mCdc21, Mcmd4, 19G, Cdc21

MMRRC Submission

045484-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15441761-15455264 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

C to A at 15455042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000023353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023352] [ENSMUST00000023353]

AlphaFold

P49717

Predicted Effect

probably benign
Transcript: ENSMUST00000023352

SMART Domains

Protein: ENSMUSP00000023352
Gene: ENSMUSG00000022672

Domain	Start	End	E-Value	Type
low complexity region	125	138	N/A	INTRINSIC
low complexity region	1253	1263	N/A	INTRINSIC
low complexity region	1508	1522	N/A	INTRINSIC
NUC194	1810	2206	2.37e-246	SMART
SCOP:d1gw5a_	2210	2493	5e-3	SMART
low complexity region	2669	2681	N/A	INTRINSIC
low complexity region	2841	2855	N/A	INTRINSIC
Pfam:FAT	3024	3470	8.2e-75	PFAM
PI3Kc	3749	4068	3.67e-86	SMART
FATC	4096	4128	1.57e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000023353
AA Change: M1I

SMART Domains

Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: M1I

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
MCM	266	769	N/A	SMART
AAA	501	653	7.04e-3	SMART
Blast:MCM	781	849	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000229606

Predicted Effect

probably benign
Transcript: ENSMUST00000230437

Coding Region Coverage

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

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 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, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this allele cause chromosomal instability as assessed by micronucleus levels in erythrocytes. Mice homozygous for a spontaneous allele exhibit early onset T cell acute lymphoblastic leukemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,943,487 (GRCm39)	P12Q	probably damaging	Het
Acsf3	A	G	8: 123,507,163 (GRCm39)	Y152C	probably damaging	Het
Adam22	T	A	5: 8,145,049 (GRCm39)	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,227,825 (GRCm39)	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,666,845 (GRCm39)	D464G	possibly damaging	Het
Alpk3	T	A	7: 80,726,660 (GRCm39)	I115K	probably benign	Het
Amdhd2	A	G	17: 24,380,657 (GRCm39)	S96P		Het
Ankib1	T	G	5: 3,819,586 (GRCm39)	D111A	probably benign	Het
Arhgef2	A	G	3: 88,540,873 (GRCm39)	D216G	probably damaging	Het
Astn1	A	T	1: 158,380,425 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,913,668 (GRCm39)	Y107*	probably null	Het
Atrn	T	A	2: 130,789,520 (GRCm39)	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427 (GRCm38)	H375L	probably damaging	Het
Btaf1	A	T	19: 36,980,915 (GRCm39)	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,497,671 (GRCm39)	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 95,629,981 (GRCm39)	K520R	probably damaging	Het
Cd2ap	T	C	17: 43,116,054 (GRCm39)	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 48,164,408 (GRCm39)	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,391,575 (GRCm39)	Y735*	probably null	Het
Cep350	T	A	1: 155,803,961 (GRCm39)	I1041L	probably benign	Het
Ckap4	A	G	10: 84,363,863 (GRCm39)	V400A	probably damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Coq10b	A	C	1: 55,100,500 (GRCm39)	K61N	probably benign	Het
Csmd2	G	A	4: 128,215,889 (GRCm39)	S548N		Het
Csmd2	A	C	4: 128,215,888 (GRCm39)	S548R		Het
Ctif	A	G	18: 75,744,807 (GRCm39)	I99T	probably benign	Het
Ctns	T	G	11: 73,083,903 (GRCm39)	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,712,674 (GRCm39)	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,729,318 (GRCm39)	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,938,968 (GRCm39)	K401R	probably damaging	Het
Dstn	T	A	2: 143,780,368 (GRCm39)	C23S	probably benign	Het
Fam72a	A	T	1: 131,466,613 (GRCm39)	E132D	probably damaging	Het
Fam72a	G	T	1: 131,466,614 (GRCm39)	E133*	probably null	Het
Gbp8	T	A	5: 105,179,161 (GRCm39)	I113F	probably damaging	Het
Gm3095	A	T	14: 15,170,332 (GRCm39)	R60S	possibly damaging	Het
Gpa33	A	T	1: 165,980,263 (GRCm39)	M109L	probably damaging	Het
Grik2	A	G	10: 49,411,493 (GRCm39)	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,194,725 (GRCm39)	F897L	probably damaging	Het
Hinfp	A	G	9: 44,209,314 (GRCm39)	L295P	probably damaging	Het
Ift122	T	C	6: 115,871,283 (GRCm39)	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,665,853 (GRCm39)	T82A	probably benign	Het
Il18rap	T	A	1: 40,564,111 (GRCm39)	S76R	probably benign	Het
Itga6	A	T	2: 71,683,897 (GRCm39)	N1045I	probably benign	Het
Kctd21	A	T	7: 96,996,970 (GRCm39)	I148F	possibly damaging	Het
Kif28	T	A	1: 179,567,644 (GRCm39)	H42L	probably benign	Het
Kmt2c	A	C	5: 25,600,418 (GRCm39)	C326W	probably damaging	Het
Knl1	T	A	2: 118,925,707 (GRCm39)	L1912*	probably null	Het
Lrfn1	A	T	7: 28,158,947 (GRCm39)	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,057,185 (GRCm39)	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,147,566 (GRCm39)	N592I	probably damaging	Het
Mbl2	A	G	19: 30,216,802 (GRCm39)	N205D	possibly damaging	Het
Mgat4a	T	A	1: 37,493,865 (GRCm39)	H327L	probably damaging	Het
Miox	A	G	15: 89,219,206 (GRCm39)	D16G	probably benign	Het
Mvk	C	A	5: 114,594,039 (GRCm39)	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699 (GRCm39)	L726P	probably damaging	Het
Nos1	T	C	5: 118,087,880 (GRCm39)	I1381T	probably benign	Het
Nup98	A	T	7: 101,784,144 (GRCm39)	S1063T	probably benign	Het
Obscn	T	G	11: 58,886,275 (GRCm39)	M7862L	unknown	Het
Obsl1	T	C	1: 75,464,348 (GRCm39)	T1653A	probably benign	Het
Odr4	A	G	1: 150,262,107 (GRCm39)		probably null	Het
Or4c105	G	T	2: 88,647,687 (GRCm39)	M57I	probably damaging	Het
Or8g53	T	A	9: 39,683,260 (GRCm39)	T279S	probably benign	Het
Or8u9	A	G	2: 86,001,546 (GRCm39)	I205T	probably benign	Het
Or9q2	C	T	19: 13,772,358 (GRCm39)	V206I	probably damaging	Het
Pcdhb20	A	G	18: 37,638,005 (GRCm39)	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,434,657 (GRCm39)	I208L	probably benign	Het
Phlpp1	G	T	1: 106,317,420 (GRCm39)	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,025,053 (GRCm39)	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,052,438 (GRCm39)	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419 (GRCm38)	C101R	probably damaging	Het
Rcor3	A	C	1: 191,812,283 (GRCm39)	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,847,372 (GRCm39)	Q653R	probably benign	Het
Rpap2	T	A	5: 107,768,324 (GRCm39)	Y387*	probably null	Het
Rttn	C	T	18: 89,004,035 (GRCm39)	T343M	possibly damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Six5	T	C	7: 18,828,968 (GRCm39)	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,824,852 (GRCm39)	M419K	probably benign	Het
Slc22a21	T	C	11: 53,851,226 (GRCm39)	M179V	probably benign	Het
Slc35a4	A	G	18: 36,813,570 (GRCm39)	D6G	unknown	Het
Spdye4c	A	T	2: 128,434,261 (GRCm39)	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699 (GRCm39)	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,004,893 (GRCm39)	N85S	probably benign	Het
Teddm2	G	C	1: 153,726,344 (GRCm39)	L124V	probably benign	Het
Teddm2	A	T	1: 153,726,343 (GRCm39)	L124Q	probably damaging	Het
Tgfbr1	T	A	4: 47,405,623 (GRCm39)	W409R	probably damaging	Het
Tkt	A	G	14: 30,280,755 (GRCm39)	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,768,501 (GRCm39)	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,641,126 (GRCm39)	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,846,803 (GRCm39)	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,487,883 (GRCm39)	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,403,176 (GRCm39)	T523I	probably benign	Het
Vwa3b	C	T	1: 37,153,678 (GRCm39)	Q507*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfp281	T	G	1: 136,553,190 (GRCm39)	L56R	probably damaging	Het
Zfp407	G	A	18: 84,579,661 (GRCm39)	T484I	probably benign	Het
Zfp451	T	C	1: 33,852,843 (GRCm39)	T24A	probably benign	Het
Zfp607b	T	A	7: 27,392,919 (GRCm39)	F16I	probably damaging	Het
Zfp638	T	A	6: 83,905,670 (GRCm39)	V41E	possibly damaging	Het

Other mutations in Mcm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Mcm4	APN	16	15,443,995 (GRCm39)	missense	probably damaging	1.00
IGL01982:Mcm4	APN	16	15,448,284 (GRCm39)	missense	possibly damaging	0.57
IGL02382:Mcm4	APN	16	15,442,602 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Mcm4	UTSW	16	15,454,577 (GRCm39)	missense	probably benign	0.01
R0200:Mcm4	UTSW	16	15,447,503 (GRCm39)	missense	probably benign	0.41
R0540:Mcm4	UTSW	16	15,449,979 (GRCm39)	critical splice donor site	probably null
R0607:Mcm4	UTSW	16	15,449,979 (GRCm39)	critical splice donor site	probably null
R2064:Mcm4	UTSW	16	15,452,333 (GRCm39)	missense	possibly damaging	0.75
R4240:Mcm4	UTSW	16	15,445,570 (GRCm39)	nonsense	probably null
R4604:Mcm4	UTSW	16	15,447,527 (GRCm39)	missense	probably damaging	1.00
R4871:Mcm4	UTSW	16	15,452,374 (GRCm39)	nonsense	probably null
R5070:Mcm4	UTSW	16	15,443,434 (GRCm39)	missense	probably damaging	1.00
R5125:Mcm4	UTSW	16	15,453,167 (GRCm39)	missense	probably benign	0.21
R5178:Mcm4	UTSW	16	15,453,167 (GRCm39)	missense	probably benign	0.21
R5245:Mcm4	UTSW	16	15,448,289 (GRCm39)	missense	probably benign	0.02
R5513:Mcm4	UTSW	16	15,448,378 (GRCm39)	missense	probably benign	0.26
R5696:Mcm4	UTSW	16	15,443,434 (GRCm39)	missense	probably damaging	1.00
R6453:Mcm4	UTSW	16	15,448,273 (GRCm39)	missense	probably damaging	1.00
R6753:Mcm4	UTSW	16	15,447,226 (GRCm39)	missense	possibly damaging	0.91
R6909:Mcm4	UTSW	16	15,446,561 (GRCm39)	missense	probably damaging	1.00
R6937:Mcm4	UTSW	16	15,454,199 (GRCm39)	missense	probably benign
R7483:Mcm4	UTSW	16	15,448,306 (GRCm39)	missense	probably benign	0.05
R8275:Mcm4	UTSW	16	15,452,435 (GRCm39)	missense	probably damaging	0.98
R8487:Mcm4	UTSW	16	15,450,042 (GRCm39)	missense	probably damaging	1.00
R8683:Mcm4	UTSW	16	15,453,138 (GRCm39)	missense	probably damaging	0.99
R8742:Mcm4	UTSW	16	15,443,430 (GRCm39)	missense	possibly damaging	0.52
R8929:Mcm4	UTSW	16	15,448,289 (GRCm39)	missense	probably benign	0.02
R9138:Mcm4	UTSW	16	15,447,200 (GRCm39)	missense	probably damaging	1.00
R9440:Mcm4	UTSW	16	15,453,175 (GRCm39)	nonsense	probably null
Z1177:Mcm4	UTSW	16	15,450,080 (GRCm39)	missense	possibly damaging	0.55
Z1177:Mcm4	UTSW	16	15,447,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATATGCTCAAGGCCTGTCAACC -3'
(R):5'- TCTTTGATTGGCCAGGCGTC -3'

Sequencing Primer
(F):5'- CACACACCAGGCTCGAAGG -3'
(R):5'- ATTGGCCAGGCGTCTTCGG -3'

Posted On

2019-09-13