Incidental Mutation 'R0543:Mcm9'
ID 50066
Institutional Source Beutler Lab
Gene Symbol Mcm9
Ensembl Gene ENSMUSG00000058298
Gene Name minichromosome maintenance 9 homologous recombination repair factor
Synonyms 9030408O17Rik, Mcmdc1
MMRRC Submission 038735-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0543 (G1)
Quality Score 166
Status Validated
Chromosome 10
Chromosomal Location 53412411-53506535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53417694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 3 (R3H)
Ref Sequence ENSEMBL: ENSMUSP00000151956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075540] [ENSMUST00000219547] [ENSMUST00000220007]
AlphaFold Q2KHI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000075540
AA Change: R741H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: R741H

DomainStartEndE-ValueType
low complexity region 22 44 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
low complexity region 81 111 N/A INTRINSIC
MCM 268 761 9.44e-116 SMART
AAA 500 649 2.43e-6 SMART
coiled coil region 789 817 N/A INTRINSIC
low complexity region 884 895 N/A INTRINSIC
low complexity region 1004 1028 N/A INTRINSIC
low complexity region 1045 1056 N/A INTRINSIC
low complexity region 1199 1216 N/A INTRINSIC
low complexity region 1219 1232 N/A INTRINSIC
low complexity region 1246 1255 N/A INTRINSIC
low complexity region 1262 1276 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219547
AA Change: R3H

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000220007
AA Change: R3H

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.2675 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (69/70)
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 a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for gene trap alleles display germ cell loss with reduced fertility or infertility and increased tumor incidence, particulary of hepatocellular carcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 T A 6: 116,431,278 (GRCm39) probably null Het
Apol9b A G 15: 77,619,840 (GRCm39) N212S probably damaging Het
Ash1l T A 3: 88,971,085 (GRCm39) probably null Het
Bltp1 G A 3: 37,050,607 (GRCm39) S2981N probably benign Het
Ccdc180 A T 4: 45,900,041 (GRCm39) K200* probably null Het
Ccser2 A T 14: 36,662,149 (GRCm39) M345K probably benign Het
Cdcp2 A T 4: 106,954,873 (GRCm39) probably null Het
Clca3a1 T C 3: 144,454,155 (GRCm39) probably benign Het
Cntn3 G A 6: 102,246,051 (GRCm39) probably benign Het
Col28a1 T A 6: 8,075,326 (GRCm39) probably benign Het
Dock2 A G 11: 34,244,325 (GRCm39) F1035S probably damaging Het
Dsg1a A T 18: 20,473,920 (GRCm39) S998C probably damaging Het
Ecrg4 C A 1: 43,781,449 (GRCm39) N110K possibly damaging Het
Enox1 T C 14: 77,744,399 (GRCm39) probably benign Het
Fgfr3 A G 5: 33,887,054 (GRCm39) M1V probably null Het
Fuca2 T A 10: 13,378,870 (GRCm39) Y5N probably damaging Het
Git2 G T 5: 114,883,592 (GRCm39) H42Q probably damaging Het
Gm7964 G A 7: 83,405,602 (GRCm39) noncoding transcript Het
Hars2 G A 18: 36,922,477 (GRCm39) E337K probably damaging Het
Hells A G 19: 38,956,194 (GRCm39) R797G probably benign Het
Hnf1a G A 5: 115,088,803 (GRCm39) S571L probably benign Het
Hoxa5 T C 6: 52,181,320 (GRCm39) Y4C probably damaging Het
Inpp4a G A 1: 37,408,573 (GRCm39) probably benign Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Itpr1 T C 6: 108,492,709 (GRCm39) probably benign Het
Itprid2 T A 2: 79,474,850 (GRCm39) S270T possibly damaging Het
Kcnt2 C A 1: 140,537,352 (GRCm39) P1037T probably damaging Het
Lyg2 T A 1: 37,950,188 (GRCm39) M47L possibly damaging Het
Macf1 G T 4: 123,270,171 (GRCm39) A4648D probably damaging Het
Mcf2l T C 8: 13,046,728 (GRCm39) probably null Het
Met T A 6: 17,491,969 (GRCm39) Y244N probably damaging Het
Mettl14 A T 3: 123,168,411 (GRCm39) C210S possibly damaging Het
Mrgpra4 T C 7: 47,631,058 (GRCm39) Y181C probably benign Het
Mtch2 T C 2: 90,680,026 (GRCm39) V86A possibly damaging Het
Mttp A T 3: 137,817,457 (GRCm39) I446N possibly damaging Het
Muc4 T A 16: 32,577,120 (GRCm39) S2207T unknown Het
Muc5b A G 7: 141,405,522 (GRCm39) T944A unknown Het
Myo15a A T 11: 60,369,877 (GRCm39) H879L probably benign Het
Nherf4 A C 9: 44,160,231 (GRCm39) H324Q probably damaging Het
Nkiras2 G A 11: 100,515,018 (GRCm39) probably benign Het
Nostrin T G 2: 69,019,475 (GRCm39) *507E probably null Het
Nup205 T C 6: 35,175,904 (GRCm39) V589A probably benign Het
Or12j3 A G 7: 139,953,307 (GRCm39) I72T probably benign Het
Or5b21 G T 19: 12,839,252 (GRCm39) V38F probably benign Het
Or5w17 C A 2: 87,583,994 (GRCm39) L114F probably damaging Het
Oxct2b T A 4: 123,010,782 (GRCm39) M234K possibly damaging Het
Pcdha1 A T 18: 37,318,121 (GRCm39) I945F probably damaging Het
Pik3ca G A 3: 32,504,410 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,887 (GRCm39) probably null Het
Plscr1 A T 9: 92,140,099 (GRCm39) probably null Het
Prkn G A 17: 11,286,066 (GRCm39) D20N probably damaging Het
Psd T C 19: 46,307,956 (GRCm39) E684G possibly damaging Het
Rab11fip3 T C 17: 26,213,199 (GRCm39) E870G probably damaging Het
Rpl22l1 C A 3: 28,861,423 (GRCm39) Y103* probably null Het
Semp2l2b T C 10: 21,942,823 (GRCm39) S386G possibly damaging Het
Slc38a4 A T 15: 96,914,720 (GRCm39) N44K possibly damaging Het
Slco6c1 T A 1: 97,055,623 (GRCm39) I93F probably damaging Het
Strip1 G A 3: 107,534,091 (GRCm39) T181M possibly damaging Het
Stxbp5l G A 16: 37,028,458 (GRCm39) A535V probably damaging Het
Tg A T 15: 66,601,446 (GRCm39) Q152L probably benign Het
Thada T C 17: 84,730,591 (GRCm39) T1036A probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tns1 T A 1: 73,991,856 (GRCm39) T941S probably benign Het
Tppp3 T C 8: 106,194,840 (GRCm39) D97G probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Trpm7 T C 2: 126,690,449 (GRCm39) I210V probably damaging Het
Ubr1 A G 2: 120,711,574 (GRCm39) L1440P probably damaging Het
Utp18 A T 11: 93,766,661 (GRCm39) Y317N probably damaging Het
Zdhhc5 T A 2: 84,522,824 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Other mutations in Mcm9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Mcm9 APN 10 53,499,069 (GRCm39) missense probably damaging 0.97
IGL00904:Mcm9 APN 10 53,499,017 (GRCm39) missense possibly damaging 0.89
IGL00943:Mcm9 APN 10 53,424,685 (GRCm39) missense probably damaging 1.00
IGL01019:Mcm9 APN 10 53,506,041 (GRCm39) missense probably damaging 1.00
IGL02452:Mcm9 APN 10 53,417,653 (GRCm39) missense probably damaging 1.00
IGL02481:Mcm9 APN 10 53,502,033 (GRCm39) missense probably damaging 1.00
IGL02982:Mcm9 APN 10 53,501,922 (GRCm39) missense probably damaging 0.99
IGL03300:Mcm9 APN 10 53,487,523 (GRCm39) missense probably damaging 1.00
R0021:Mcm9 UTSW 10 53,413,997 (GRCm39) missense possibly damaging 0.94
R0117:Mcm9 UTSW 10 53,413,832 (GRCm39) missense possibly damaging 0.49
R0137:Mcm9 UTSW 10 53,439,526 (GRCm39) missense possibly damaging 0.95
R0420:Mcm9 UTSW 10 53,424,623 (GRCm39) missense probably benign 0.10
R0499:Mcm9 UTSW 10 53,414,250 (GRCm39) missense probably benign 0.01
R0947:Mcm9 UTSW 10 53,413,597 (GRCm39) small deletion probably benign
R0975:Mcm9 UTSW 10 53,414,742 (GRCm39) nonsense probably null
R1573:Mcm9 UTSW 10 53,424,752 (GRCm39) missense probably damaging 0.97
R1726:Mcm9 UTSW 10 53,413,977 (GRCm39) missense possibly damaging 0.67
R1839:Mcm9 UTSW 10 53,417,649 (GRCm39) missense probably damaging 0.99
R2050:Mcm9 UTSW 10 53,488,921 (GRCm39) critical splice donor site probably null
R2113:Mcm9 UTSW 10 53,491,943 (GRCm39) splice site probably null
R2172:Mcm9 UTSW 10 53,424,670 (GRCm39) missense probably damaging 1.00
R3417:Mcm9 UTSW 10 53,413,503 (GRCm39) missense possibly damaging 0.83
R3755:Mcm9 UTSW 10 53,502,048 (GRCm39) missense probably benign 0.08
R3787:Mcm9 UTSW 10 53,492,076 (GRCm39) missense possibly damaging 0.78
R3789:Mcm9 UTSW 10 53,492,113 (GRCm39) missense probably damaging 1.00
R3953:Mcm9 UTSW 10 53,439,440 (GRCm39) missense probably damaging 1.00
R4291:Mcm9 UTSW 10 53,423,668 (GRCm39) missense probably benign 0.22
R4358:Mcm9 UTSW 10 53,413,749 (GRCm39) missense probably benign 0.03
R4660:Mcm9 UTSW 10 53,424,623 (GRCm39) missense probably benign 0.10
R4662:Mcm9 UTSW 10 53,424,623 (GRCm39) missense probably benign 0.10
R5082:Mcm9 UTSW 10 53,414,156 (GRCm39) missense possibly damaging 0.94
R5130:Mcm9 UTSW 10 53,506,495 (GRCm39) missense possibly damaging 0.90
R5193:Mcm9 UTSW 10 53,492,134 (GRCm39) missense probably damaging 0.99
R5238:Mcm9 UTSW 10 53,506,093 (GRCm39) missense possibly damaging 0.83
R5317:Mcm9 UTSW 10 53,414,330 (GRCm39) missense probably damaging 1.00
R5395:Mcm9 UTSW 10 53,414,788 (GRCm39) missense possibly damaging 0.93
R5524:Mcm9 UTSW 10 53,424,786 (GRCm39) nonsense probably null
R5593:Mcm9 UTSW 10 53,414,393 (GRCm39) missense probably damaging 0.99
R5748:Mcm9 UTSW 10 53,501,825 (GRCm39) missense probably damaging 1.00
R6025:Mcm9 UTSW 10 53,492,073 (GRCm39) missense possibly damaging 0.93
R6299:Mcm9 UTSW 10 53,413,777 (GRCm39) missense probably damaging 1.00
R6344:Mcm9 UTSW 10 53,414,033 (GRCm39) missense probably benign 0.03
R6502:Mcm9 UTSW 10 53,488,935 (GRCm39) missense probably damaging 1.00
R6621:Mcm9 UTSW 10 53,439,409 (GRCm39) missense probably damaging 1.00
R6883:Mcm9 UTSW 10 53,492,110 (GRCm39) missense probably damaging 1.00
R6932:Mcm9 UTSW 10 53,496,299 (GRCm39) missense probably benign 0.06
R6963:Mcm9 UTSW 10 53,424,713 (GRCm39) missense probably damaging 1.00
R7094:Mcm9 UTSW 10 53,496,253 (GRCm39) missense probably damaging 1.00
R7114:Mcm9 UTSW 10 53,414,669 (GRCm39) missense possibly damaging 0.55
R7200:Mcm9 UTSW 10 53,492,019 (GRCm39) missense
R7593:Mcm9 UTSW 10 53,506,088 (GRCm39) missense probably benign 0.04
R7671:Mcm9 UTSW 10 53,413,665 (GRCm39) missense probably benign 0.01
R7697:Mcm9 UTSW 10 53,491,990 (GRCm39) missense
R7997:Mcm9 UTSW 10 53,473,502 (GRCm39) start gained probably benign
R8136:Mcm9 UTSW 10 53,487,439 (GRCm39) makesense probably null
R8137:Mcm9 UTSW 10 53,499,076 (GRCm39) missense
R8494:Mcm9 UTSW 10 53,501,856 (GRCm39) missense possibly damaging 0.48
R8526:Mcm9 UTSW 10 53,506,221 (GRCm39) unclassified probably benign
R8558:Mcm9 UTSW 10 53,492,068 (GRCm39) missense probably benign 0.07
R8703:Mcm9 UTSW 10 53,506,073 (GRCm39) missense probably damaging 0.96
R8836:Mcm9 UTSW 10 53,502,130 (GRCm39) missense
R8994:Mcm9 UTSW 10 53,424,620 (GRCm39) missense probably benign 0.31
R9150:Mcm9 UTSW 10 53,502,110 (GRCm39) missense
R9564:Mcm9 UTSW 10 53,506,104 (GRCm39) missense possibly damaging 0.90
Z1176:Mcm9 UTSW 10 53,505,884 (GRCm39) frame shift probably null
Z1176:Mcm9 UTSW 10 53,413,603 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGAGCCGCTTCTTCGGGATTTAC -3'
(R):5'- ACACAACATTGCCTGGACTGTGAC -3'

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