Incidental Mutation 'R0519:Mcm10'
ID 48364
Institutional Source Beutler Lab
Gene Symbol Mcm10
Ensembl Gene ENSMUSG00000026669
Gene Name minichromosome maintenance 10 replication initiation factor
Synonyms C330019M07Rik, 2410041F14Rik
MMRRC Submission 038712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0519 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 4995535-5017602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5013356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 92 (S92L)
Ref Sequence ENSEMBL: ENSMUSP00000100050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027980] [ENSMUST00000102985]
AlphaFold Q0VBD2
Predicted Effect probably benign
Transcript: ENSMUST00000027980
AA Change: S92L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027980
Gene: ENSMUSG00000026669
AA Change: S92L

DomainStartEndE-ValueType
coiled coil region 102 138 N/A INTRINSIC
low complexity region 218 228 N/A INTRINSIC
Pfam:zf-primase 398 443 2e-21 PFAM
low complexity region 480 493 N/A INTRINSIC
Mcm10 538 883 2.27e-184 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102985
AA Change: S92L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100050
Gene: ENSMUSG00000026669
AA Change: S92L

DomainStartEndE-ValueType
coiled coil region 102 138 N/A INTRINSIC
low complexity region 218 228 N/A INTRINSIC
Pfam:zf-primase 398 443 3.7e-21 PFAM
low complexity region 480 493 N/A INTRINSIC
Mcm10 538 883 2.27e-184 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146257
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
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 involved in 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 it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryonic cell proliferation and early embryonic letahlity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably damaging Het
Other mutations in Mcm10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Mcm10 APN 2 5,013,439 (GRCm39) missense probably benign 0.00
IGL02028:Mcm10 APN 2 5,013,511 (GRCm39) missense possibly damaging 0.95
IGL02672:Mcm10 APN 2 5,006,092 (GRCm39) missense probably benign 0.00
IGL03352:Mcm10 APN 2 4,999,407 (GRCm39) missense probably damaging 1.00
R0055:Mcm10 UTSW 2 4,996,218 (GRCm39) missense probably damaging 1.00
R0055:Mcm10 UTSW 2 4,996,218 (GRCm39) missense probably damaging 1.00
R0320:Mcm10 UTSW 2 5,008,897 (GRCm39) missense probably benign
R0379:Mcm10 UTSW 2 5,013,434 (GRCm39) missense probably benign 0.05
R0385:Mcm10 UTSW 2 5,008,965 (GRCm39) missense possibly damaging 0.82
R1537:Mcm10 UTSW 2 5,003,591 (GRCm39) missense possibly damaging 0.77
R1597:Mcm10 UTSW 2 5,003,563 (GRCm39) missense probably damaging 1.00
R1727:Mcm10 UTSW 2 5,011,336 (GRCm39) missense probably benign 0.10
R1758:Mcm10 UTSW 2 5,008,861 (GRCm39) missense probably damaging 1.00
R1997:Mcm10 UTSW 2 4,998,571 (GRCm39) missense probably damaging 1.00
R3618:Mcm10 UTSW 2 5,001,913 (GRCm39) critical splice donor site probably null
R4005:Mcm10 UTSW 2 5,005,814 (GRCm39) missense probably damaging 1.00
R4870:Mcm10 UTSW 2 5,008,970 (GRCm39) missense probably damaging 1.00
R5302:Mcm10 UTSW 2 5,012,181 (GRCm39) missense probably benign 0.12
R5488:Mcm10 UTSW 2 4,996,929 (GRCm39) missense probably damaging 1.00
R6921:Mcm10 UTSW 2 5,005,746 (GRCm39) missense probably benign 0.00
R7259:Mcm10 UTSW 2 5,011,328 (GRCm39) missense probably benign 0.02
R7353:Mcm10 UTSW 2 5,011,920 (GRCm39) missense possibly damaging 0.54
R7489:Mcm10 UTSW 2 5,006,112 (GRCm39) missense probably damaging 1.00
R7744:Mcm10 UTSW 2 4,996,253 (GRCm39) missense probably damaging 1.00
R7903:Mcm10 UTSW 2 5,000,613 (GRCm39) missense probably benign 0.00
R9021:Mcm10 UTSW 2 4,997,782 (GRCm39) missense probably benign 0.03
R9072:Mcm10 UTSW 2 5,013,414 (GRCm39) missense possibly damaging 0.63
R9073:Mcm10 UTSW 2 5,013,414 (GRCm39) missense possibly damaging 0.63
R9135:Mcm10 UTSW 2 5,011,372 (GRCm39) missense probably benign 0.01
X0020:Mcm10 UTSW 2 5,011,959 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTACGCCCTCATTCAAGGTCAGC -3'
(R):5'- GACGGGGACCCTGATGAATTTGATG -3'

Sequencing Primer
(F):5'- acccatctgtccctaactcc -3'
(R):5'- AGTCTTACACAGAAGAGGCTGG -3'
Posted On 2013-06-12