Incidental Mutation 'R8683:Mcm4'
ID 661912
Institutional Source Beutler Lab
Gene Symbol Mcm4
Ensembl Gene ENSMUSG00000022673
Gene Name minichromosome maintenance complex component 4
Synonyms mCdc21, Mcmd4, 19G, Cdc21
MMRRC Submission 068538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 15441761-15455264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15453138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 184 (G184C)
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 damaging
Transcript: ENSMUST00000023353
AA Change: G184C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023353
Gene: ENSMUSG00000022673
AA Change: G184C

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
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,768,881 (GRCm39) D227G possibly damaging Het
Actl11 T A 9: 107,806,065 (GRCm39) D129E probably benign Het
Adam12 T A 7: 133,491,929 (GRCm39) E877D possibly damaging Het
Adarb2 T A 13: 8,807,395 (GRCm39) V732E probably damaging Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Adgrg1 C T 8: 95,736,276 (GRCm39) H477Y probably damaging Het
Ahctf1 T C 1: 179,623,321 (GRCm39) E99G possibly damaging Het
Ankk1 T A 9: 49,329,292 (GRCm39) M93L Het
Ankmy1 A T 1: 92,812,972 (GRCm39) L446M possibly damaging Het
Anxa10 T A 8: 62,510,825 (GRCm39) Y309F probably damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Atp6v0a4 T A 6: 38,025,926 (GRCm39) *834L probably null Het
Avl9 T A 6: 56,730,378 (GRCm39) S574T probably benign Het
AW551984 G A 9: 39,511,005 (GRCm39) T194I possibly damaging Het
Azin1 G A 15: 38,493,775 (GRCm39) L283F probably damaging Het
Birc6 G A 17: 74,916,114 (GRCm39) A1677T possibly damaging Het
Carm1 A T 9: 21,497,464 (GRCm39) D342V possibly damaging Het
Ccr4 T C 9: 114,321,216 (GRCm39) D283G probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cntn2 A T 1: 132,450,731 (GRCm39) L548Q probably damaging Het
Copg1 A G 6: 87,869,637 (GRCm39) D172G probably damaging Het
Cyp2j12 T A 4: 96,009,805 (GRCm39) N185Y probably benign Het
Dapk3 T C 10: 81,026,069 (GRCm39) L120P probably damaging Het
Dclre1b A C 3: 103,711,298 (GRCm39) S204R probably damaging Het
Dennd2a G A 6: 39,500,137 (GRCm39) R143* probably null Het
Dnah5 A T 15: 28,289,367 (GRCm39) E1185D probably benign Het
Dop1b C T 16: 93,568,699 (GRCm39) T1587I probably damaging Het
Dop1b A G 16: 93,570,809 (GRCm39) T1603A probably benign Het
Dym T A 18: 75,363,089 (GRCm39) V531E probably damaging Het
Dync2i1 G T 12: 116,193,262 (GRCm39) D563E probably benign Het
Ecpas T C 4: 58,834,515 (GRCm39) S788G probably benign Het
Eif2b4 A T 5: 31,345,274 (GRCm39) F453L probably damaging Het
Entpd8 G A 2: 24,974,992 (GRCm39) G441D probably damaging Het
Galnt6 A T 15: 100,592,603 (GRCm39) Y535N probably damaging Het
Garin2 TGATGTCACAGATGTCAC TGATGTCAC 12: 78,762,057 (GRCm39) probably benign Het
Gm10340 T A 14: 14,826,748 (GRCm39) D72E possibly damaging Het
Gm13102 T A 4: 143,835,680 (GRCm39) D449E probably damaging Het
Hdac9 T A 12: 34,440,220 (GRCm39) K386N probably damaging Het
Hgs T A 11: 120,366,044 (GRCm39) C212* probably null Het
Hoxa2 C A 6: 52,141,540 (GRCm39) A29S possibly damaging Het
Ifnar1 T A 16: 91,296,332 (GRCm39) W278R probably damaging Het
Irf7 C T 7: 140,843,422 (GRCm39) G389R probably null Het
Lipo3 G A 19: 33,759,604 (GRCm39) L211F probably benign Het
Mars2 C T 1: 55,277,741 (GRCm39) T448I probably benign Het
Mmaa C T 8: 79,994,598 (GRCm39) A403T probably damaging Het
Mmel1 A G 4: 154,973,985 (GRCm39) I342V probably benign Het
Myb T C 10: 21,026,405 (GRCm39) T188A possibly damaging Het
Myo1g C T 11: 6,467,569 (GRCm39) probably null Het
Npas2 A G 1: 39,386,708 (GRCm39) Q659R probably benign Het
Npr1 A G 3: 90,362,497 (GRCm39) V941A probably benign Het
Numa1 T G 7: 101,626,617 (GRCm39) M1R probably null Het
Obscn T C 11: 58,967,705 (GRCm39) S2700G probably benign Het
Or2t35 T A 14: 14,407,480 (GRCm38) L84H probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Or5g25 A T 2: 85,478,410 (GRCm39) I85N probably benign Het
Pdpr T A 8: 111,850,492 (GRCm39) H476Q probably damaging Het
Pkd1l1 A T 11: 8,821,805 (GRCm39) S1630T Het
Prdm16 A G 4: 154,613,161 (GRCm39) S89P probably damaging Het
Ptgdr2 T A 19: 10,917,893 (GRCm39) W137R possibly damaging Het
Ptpra A G 2: 130,394,187 (GRCm39) I784V possibly damaging Het
Rabepk G T 2: 34,685,188 (GRCm39) D77E possibly damaging Het
Sh2b1 GGGGACCAGCTCAGCCACGGGGACCAGCTC GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,743 (GRCm39) probably benign Het
Smc3 T A 19: 53,629,616 (GRCm39) S994T possibly damaging Het
Sparc A G 11: 55,292,783 (GRCm39) C147R probably damaging Het
Supt6 A T 11: 78,108,727 (GRCm39) D1191E probably benign Het
Susd4 T C 1: 182,719,832 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,291,631 (GRCm39) probably null Het
Tecta T G 9: 42,278,268 (GRCm39) D1080A probably damaging Het
Tenm4 G T 7: 96,552,064 (GRCm39) W2538L probably damaging Het
Trappc9 A G 15: 72,884,664 (GRCm39) F439L probably benign Het
Tsbp1 A T 17: 34,667,782 (GRCm39) Q158L possibly damaging Het
Vegfa A T 17: 46,342,396 (GRCm39) S141T probably benign Het
Vmn2r9 T A 5: 108,996,873 (GRCm39) D132V probably benign 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
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
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'- TTATGTGTTCGCAGTTCACATTTAA -3'
(R):5'- TTGTCACATATTTATTGCTGGGG -3'

Sequencing Primer
(F):5'- AGACATATGGACAAGTCGTA -3'
(R):5'- AACTCAGGTTGTCAGGCTTCCAG -3'
Posted On 2021-03-08