Incidental Mutation 'R6937:Mcm4'
ID 540361
Institutional Source Beutler Lab
Gene Symbol Mcm4
Ensembl Gene ENSMUSG00000022673
Gene Name minichromosome maintenance complex component 4
Synonyms mCdc21, Mcmd4, 19G, Cdc21
MMRRC Submission 045051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6937 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 15441761-15455264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15454199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 83 (F83V)
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000023353
AA Change: F83V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: F83V

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (42/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd52 T C 10: 128,222,889 (GRCm39) V613A probably benign Het
Cdh23 A T 10: 60,322,893 (GRCm39) L337Q probably damaging Het
Chrna6 A G 8: 27,897,055 (GRCm39) L274P probably damaging Het
Ciita G A 16: 10,330,355 (GRCm39) probably null Het
Csnka2ip A T 16: 64,299,058 (GRCm39) probably benign Het
Ddx60 G A 8: 62,490,103 (GRCm39) D1691N probably damaging Het
Dnah7b T C 1: 46,234,280 (GRCm39) I1441T probably damaging Het
Dock4 T C 12: 40,884,634 (GRCm39) S1713P probably benign Het
Ep400 T C 5: 110,859,018 (GRCm39) probably benign Het
Epn1 T C 7: 5,092,943 (GRCm39) I85T probably damaging Het
Eri2 T C 7: 119,386,012 (GRCm39) K228E probably damaging Het
Garem1 C T 18: 21,280,827 (GRCm39) A510T probably benign Het
Gfm2 T A 13: 97,299,572 (GRCm39) probably null Het
Hnrnpd T C 5: 100,111,629 (GRCm39) T321A probably benign Het
Htr2a A T 14: 74,882,604 (GRCm39) I197F probably damaging Het
Krtap2-4 T A 11: 99,505,299 (GRCm39) probably benign Het
Lcn3 C A 2: 25,657,823 (GRCm39) Y179* probably null Het
Mak A T 13: 41,201,578 (GRCm39) M261K probably damaging Het
Marchf7 A G 2: 60,071,310 (GRCm39) T605A probably damaging Het
Myo18b T C 5: 112,950,258 (GRCm39) N1546S probably benign Het
Nckap1 T A 2: 80,339,060 (GRCm39) K989N probably damaging Het
Ndufaf5 A G 2: 140,023,522 (GRCm39) D119G probably damaging Het
Or7g28 A T 9: 19,271,985 (GRCm39) V222D probably damaging Het
Pcdh1 T C 18: 38,336,528 (GRCm39) T36A possibly damaging Het
Pitpna C T 11: 75,494,557 (GRCm39) T100I possibly damaging Het
Pmf1 A T 3: 88,306,496 (GRCm39) L102Q probably damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Robo3 A G 9: 37,341,176 (GRCm39) L10P probably benign Het
Serpinb6a T C 13: 34,102,801 (GRCm39) I241V possibly damaging Het
St14 A T 9: 31,040,956 (GRCm39) probably null Het
Stat6 T C 10: 127,494,571 (GRCm39) probably null Het
Tdpoz6 T C 3: 93,599,523 (GRCm39) N282S probably benign Het
Tdpoz8 A G 3: 92,981,417 (GRCm39) H145R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tgfbrap1 A T 1: 43,091,064 (GRCm39) V687E probably damaging Het
Trim30d A T 7: 104,132,634 (GRCm39) S68T probably damaging Het
Ttn A G 2: 76,663,253 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,292,158 (GRCm39) D97V probably benign Het
Ugt8a G A 3: 125,709,250 (GRCm39) probably benign Het
Vmn1r184 A T 7: 25,966,750 (GRCm39) K165N probably benign Het
Vmn2r86 T A 10: 130,284,523 (GRCm39) I523F probably damaging Het
Wapl G A 14: 34,444,311 (GRCm39) V588I probably benign Het
Wdr7 C T 18: 63,924,938 (GRCm39) P974S probably benign Het
Zfp975 T C 7: 42,314,480 (GRCm39) D31G possibly damaging Het
Other mutations in Mcm4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGGTAACACCATCAGAGATCTGC -3'
(R):5'- TCACTGAAACACCTGAGGAGAG -3'

Sequencing Primer
(F):5'- AGAGATCTGCTTTGTACTCACG -3'
(R):5'- AGCAGAGTTGGTACATTTTAGGACC -3'
Posted On 2018-11-06