Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Mcm4'

229016

Institutional Source

Beutler Lab

Gene Symbol

Mcm4

Ensembl Gene

ENSMUSG00000022673

Gene Name

minichromosome maintenance complex component 4

Synonyms

mCdc21, Mcmd4, 19G, Cdc21

MMRRC Submission

040069-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15441761-15455264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15452333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 267 (T267A)

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

possibly damaging
Transcript: ENSMUST00000023353
AA Change: T267A

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: T267A

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

noncoding transcript
Transcript: ENSMUST00000182134

Predicted Effect

probably benign
Transcript: ENSMUST00000229606

Predicted Effect

unknown
Transcript: ENSMUST00000230437
AA Change: T127A

Meta Mutation Damage Score

0.3569

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Actr1b	A	G	1: 36,741,168 (GRCm39)	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,041,301 (GRCm39)	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 44,796,585 (GRCm39)		probably null	Het
Alg12	A	G	15: 88,696,318 (GRCm39)	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Arhgap23	T	A	11: 97,383,888 (GRCm39)	C1144S	probably benign	Het
Arhgef40	G	A	14: 52,233,640 (GRCm39)	V829M	probably damaging	Het
Atg7	C	A	6: 114,680,324 (GRCm39)	N344K	probably damaging	Het
Aunip	T	A	4: 134,250,618 (GRCm39)	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,576,568 (GRCm39)	H88Q	probably benign	Het
Brpf3	G	A	17: 29,040,338 (GRCm39)	G920S	probably benign	Het
Cdc123	C	T	2: 5,800,354 (GRCm39)		probably benign	Het
Cdhr1	T	C	14: 36,817,062 (GRCm39)	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,202,175 (GRCm39)	V24A	probably damaging	Het
Cirbp	T	C	10: 80,006,166 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Col12a1	A	G	9: 79,569,736 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,215,649 (GRCm39)	S402T	probably damaging	Het
Cpox	T	A	16: 58,494,772 (GRCm39)	C270S	probably benign	Het
Cspg4	A	G	9: 56,803,940 (GRCm39)	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,381,917 (GRCm39)		probably benign	Het
Dctn4	T	C	18: 60,671,349 (GRCm39)	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,497,900 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,036,261 (GRCm39)	S185N	probably benign	Het
Dqx1	T	G	6: 83,035,524 (GRCm39)		probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ep400	A	C	5: 110,883,270 (GRCm39)		probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Exoc2	T	C	13: 31,119,544 (GRCm39)	D119G	probably benign	Het
Fbn2	C	T	18: 58,181,921 (GRCm39)	E1827K	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgd6	G	A	10: 93,880,903 (GRCm39)	A586T	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm12888	A	T	4: 121,182,069 (GRCm39)	W8R	unknown	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6214	A	G	3: 140,544,978 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gmeb2	A	G	2: 180,895,763 (GRCm39)	L469P	probably benign	Het
Gosr1	T	C	11: 76,628,224 (GRCm39)	I177V	probably benign	Het
Gria1	T	C	11: 57,208,534 (GRCm39)	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,340 (GRCm39)	Q533*	probably null	Het
Hadhb	T	A	5: 30,378,796 (GRCm39)		probably null	Het
Hat1	A	T	2: 71,240,504 (GRCm39)	Y66F	possibly damaging	Het
Hk1	T	C	10: 62,122,315 (GRCm39)	Y488C	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il19	T	C	1: 130,866,854 (GRCm39)	H42R	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Impg2	G	A	16: 56,063,993 (GRCm39)		probably null	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itga9	T	C	9: 118,636,361 (GRCm39)	F683S	probably damaging	Het
Itih2	A	G	2: 10,135,385 (GRCm39)	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Kcnab1	A	G	3: 65,272,060 (GRCm39)	E315G	probably benign	Het
Kcnmb2	A	C	3: 32,252,437 (GRCm39)	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl28	T	C	12: 64,990,246 (GRCm39)	N565S	probably benign	Het
Lcp1	A	G	14: 75,435,515 (GRCm39)		probably null	Het
Mlxipl	A	T	5: 135,161,631 (GRCm39)	T517S	possibly damaging	Het
Mpp3	T	A	11: 101,891,516 (GRCm39)	I541L	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Myh15	G	A	16: 48,975,984 (GRCm39)	A1351T	possibly damaging	Het
Nacc1	A	T	8: 85,399,747 (GRCm39)	M490K	probably benign	Het
Nbeal1	C	A	1: 60,309,515 (GRCm39)	Q496K	possibly damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or14j1	T	A	17: 38,145,893 (GRCm39)	M1K	probably null	Het
Pard3	T	C	8: 128,337,092 (GRCm39)	L1236P	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Phf21a	C	A	2: 92,157,422 (GRCm39)	N183K	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,380,720 (GRCm39)		probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Psg16	T	G	7: 16,827,673 (GRCm39)	S210A	possibly damaging	Het
Psg25	T	A	7: 18,255,178 (GRCm39)	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,949,508 (GRCm39)	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,860,957 (GRCm39)	E57D	possibly damaging	Het
Rpl35	A	G	2: 38,894,753 (GRCm39)	L44P	possibly damaging	Het
Rtn4r	T	C	16: 17,969,121 (GRCm39)	L183P	probably damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773 (GRCm38)	R67H	probably damaging	Het
Smg1	C	T	7: 117,756,090 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,762,374 (GRCm39)	T39A	probably damaging	Het
Sspo	A	T	6: 48,450,596 (GRCm39)	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,680,274 (GRCm39)	R68*	probably null	Het
Tgm1	A	G	14: 55,946,928 (GRCm39)	I360T	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,838,202 (GRCm39)	I212N	probably benign	Het
Ttc17	C	A	2: 94,196,892 (GRCm39)	W485L	probably damaging	Het
Ttn	C	A	2: 76,768,675 (GRCm39)	V2920F	probably damaging	Het
Tyr	T	C	7: 87,142,051 (GRCm39)	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn1r212	A	G	13: 23,068,285 (GRCm39)	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Xirp1	T	C	9: 119,845,962 (GRCm39)	I974V	probably benign	Het
Zap70	A	G	1: 36,818,215 (GRCm39)	T301A	probably benign	Het
Zfhx4	A	G	3: 5,463,987 (GRCm39)	K1382E	probably damaging	Het
Zfp280b	T	A	10: 75,875,017 (GRCm39)	C299S	probably damaging	Het
Zfp352	C	T	4: 90,113,357 (GRCm39)	S499L	probably benign	Het
Zfp423	G	A	8: 88,507,986 (GRCm39)	A661V	probably benign	Het
Zfp57	T	A	17: 37,320,568 (GRCm39)	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,674,446 (GRCm39)	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably 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
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
R7402:Mcm4	UTSW	16	15,455,042 (GRCm39)	start codon destroyed	probably null
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'- AGCCACTTTTCGGGTCTTCAG -3'
(R):5'- TGAAGAGAACCTTGAACTCCTG -3'

Sequencing Primer
(F):5'- CGGGTCTTCAGAATTTTTCATCAG -3'
(R):5'- TGAGACCTGAGTCCTATCGTCAGAG -3'

Posted On

2014-09-17