Incidental Mutation 'R2050:Mcm9'
ID 226348
Institutional Source Beutler Lab
Gene Symbol Mcm9
Ensembl Gene ENSMUSG00000058298
Gene Name minichromosome maintenance 9 homologous recombination repair factor
Synonyms 9030408O17Rik, Mcmdc1
MMRRC Submission 040057-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2050 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 53412411-53506535 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 53488921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020004] [ENSMUST00000075540] [ENSMUST00000075540] [ENSMUST00000075540] [ENSMUST00000075540] [ENSMUST00000075540] [ENSMUST00000219271] [ENSMUST00000219282] [ENSMUST00000219838] [ENSMUST00000219838] [ENSMUST00000219838]
AlphaFold Q2KHI9
Predicted Effect probably benign
Transcript: ENSMUST00000020004
SMART Domains Protein: ENSMUSP00000020004
Gene: ENSMUSG00000019857

DomainStartEndE-ValueType
Pfam:ASF1_hist_chap 1 154 7.1e-75 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000075540
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

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 null
Transcript: ENSMUST00000075540
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

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 null
Transcript: ENSMUST00000075540
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

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 null
Transcript: ENSMUST00000075540
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

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 null
Transcript: ENSMUST00000075540
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298

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 benign
Transcript: ENSMUST00000218025
Predicted Effect probably null
Transcript: ENSMUST00000218549
Predicted Effect probably null
Transcript: ENSMUST00000218549
Predicted Effect probably null
Transcript: ENSMUST00000218549
Predicted Effect probably benign
Transcript: ENSMUST00000219271
Predicted Effect probably benign
Transcript: ENSMUST00000219282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219458
Predicted Effect probably null
Transcript: ENSMUST00000219841
Predicted Effect probably null
Transcript: ENSMUST00000219841
Predicted Effect probably null
Transcript: ENSMUST00000219838
Predicted Effect probably null
Transcript: ENSMUST00000219838
Predicted Effect probably null
Transcript: ENSMUST00000219838
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 G T 10: 126,916,130 (GRCm39) E214* probably null Het
Angpt2 G T 8: 18,755,673 (GRCm39) P265T probably benign Het
Apc2 C A 10: 80,143,443 (GRCm39) probably null Het
Arpc1b C T 5: 145,062,729 (GRCm39) P250S probably damaging Het
Atxn10 T G 15: 85,249,513 (GRCm39) V115G probably benign Het
Bace2 T A 16: 97,213,336 (GRCm39) C100S probably damaging Het
Bpifb9b T C 2: 154,151,524 (GRCm39) S82P possibly damaging Het
Cacna1g A G 11: 94,300,300 (GRCm39) S2157P probably damaging Het
Cacnb4 T A 2: 52,359,598 (GRCm39) I104L probably damaging Het
Ccdc121 T C 5: 31,643,402 (GRCm39) I44T possibly damaging Het
Cdh6 T A 15: 13,057,587 (GRCm39) M245L probably benign Het
Celsr1 A C 15: 85,914,748 (GRCm39) V1075G probably benign Het
Cfap61 T C 2: 145,987,393 (GRCm39) F1065L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Colgalt1 T C 8: 72,070,330 (GRCm39) probably null Het
Ctnnal1 A T 4: 56,835,350 (GRCm39) V309D probably benign Het
D7Ertd443e T A 7: 133,868,527 (GRCm39) E659D probably damaging Het
Dab2 T C 15: 6,464,696 (GRCm39) Y516H possibly damaging Het
Dnah14 T C 1: 181,580,127 (GRCm39) L3099P probably damaging Het
Frem3 A G 8: 81,341,520 (GRCm39) E1271G probably damaging Het
Grap2 A G 15: 80,530,444 (GRCm39) H188R probably benign Het
Grin2c T C 11: 115,148,245 (GRCm39) D344G possibly damaging Het
Hmcn2 T C 2: 31,225,448 (GRCm39) M119T probably damaging Het
Hsd11b2 A G 8: 106,249,992 (GRCm39) I368V probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifit1bl2 T A 19: 34,596,870 (GRCm39) N249Y possibly damaging Het
Igsf8 T A 1: 172,146,432 (GRCm39) Y36N probably damaging Het
Lrp12 G A 15: 39,735,985 (GRCm39) S649L probably damaging Het
Map2 T C 1: 66,453,473 (GRCm39) S788P probably damaging Het
Mast4 T C 13: 102,887,917 (GRCm39) D1164G probably damaging Het
Myo5a G A 9: 75,054,156 (GRCm39) E355K probably benign Het
Myo9b T A 8: 71,743,194 (GRCm39) V85E probably damaging Het
Nbeal1 G A 1: 60,332,123 (GRCm39) probably null Het
Nlrx1 A T 9: 44,174,077 (GRCm39) W375R probably damaging Het
Pik3c2a A G 7: 116,016,686 (GRCm39) probably null Het
Plch2 A G 4: 155,085,275 (GRCm39) M272T probably benign Het
Plk4 T A 3: 40,764,815 (GRCm39) M603K probably benign Het
Rfx7 T A 9: 72,524,748 (GRCm39) V646E probably benign Het
Slc28a2b T C 2: 122,353,349 (GRCm39) S510P probably benign Het
Slc9a1 A G 4: 133,143,645 (GRCm39) H377R probably benign Het
Snrnp70 A C 7: 45,036,724 (GRCm39) Y61* probably null Het
Spatc1l T C 10: 76,399,892 (GRCm39) L138P probably damaging Het
Spink5 T C 18: 44,140,825 (GRCm39) probably null Het
Sptan1 T A 2: 29,892,250 (GRCm39) S1055T probably benign Het
Tas2r104 T A 6: 131,662,083 (GRCm39) M209L probably damaging Het
Tdrd12 C T 7: 35,228,672 (GRCm39) V17I probably damaging Het
Tmem129 C A 5: 33,815,126 (GRCm39) A16S probably benign Het
Tmtc1 T C 6: 148,164,381 (GRCm39) E584G probably damaging Het
Trank1 C A 9: 111,193,856 (GRCm39) H627N probably damaging Het
Trio T C 15: 27,852,031 (GRCm39) D820G possibly damaging Het
Trpt1 T A 19: 6,975,452 (GRCm39) N98K probably damaging Het
Ube4b A T 4: 149,429,069 (GRCm39) F857I probably damaging Het
Vmn2r45 A G 7: 8,475,021 (GRCm39) V669A probably damaging Het
Vmn2r71 A G 7: 85,273,681 (GRCm39) I832V probably damaging Het
Zbtb20 T A 16: 43,429,975 (GRCm39) probably null Het
Zfyve9 A C 4: 108,575,800 (GRCm39) M427R probably benign Het
Zfyve9 A T 4: 108,576,500 (GRCm39) F194I possibly damaging 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
R0543:Mcm9 UTSW 10 53,417,694 (GRCm39) missense probably damaging 0.97
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
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'- TCCCTTTCCCTCCAAGAGAG -3'
(R):5'- TCAGGTTGAGGTCCTAGAAAATG -3'

Sequencing Primer
(F):5'- CCTCCAAGAGAGCTAATTAGGCTTG -3'
(R):5'- GGTCCTAGAAAATGATAACTTCTGAC -3'
Posted On 2014-09-17