Incidental Mutation 'R8136:Mcm9'
ID 632262
Institutional Source Beutler Lab
Gene Symbol Mcm9
Ensembl Gene ENSMUSG00000058298
Gene Name minichromosome maintenance 9 homologous recombination repair factor
Synonyms 9030408O17Rik, Mcmdc1
MMRRC Submission 067564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8136 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 53412411-53506535 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 53487439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 543 (*543Q)
Ref Sequence ENSEMBL: ENSMUSP00000151639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020004] [ENSMUST00000075540] [ENSMUST00000219271] [ENSMUST00000219282] [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 benign
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 benign
Transcript: ENSMUST00000218549
Predicted Effect probably benign
Transcript: ENSMUST00000219271
Predicted Effect probably benign
Transcript: ENSMUST00000219282
Predicted Effect probably null
Transcript: ENSMUST00000219838
AA Change: *543Q
Predicted Effect probably benign
Transcript: ENSMUST00000219841
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,287,556 (GRCm39) M2462L probably benign Het
Aptx A G 4: 40,688,107 (GRCm39) probably null Het
Bmpr1b A G 3: 141,562,143 (GRCm39) I348T probably damaging Het
Btnl1 T A 17: 34,599,014 (GRCm39) probably null Het
Col27a1 T A 4: 63,202,190 (GRCm39) D960E probably benign Het
Crygn G T 5: 24,956,090 (GRCm39) R172S probably benign Het
Cyp26a1 T C 19: 37,689,654 (GRCm39) I450T probably benign Het
Emc2 A G 15: 43,375,202 (GRCm39) Y233C probably benign Het
Esyt2 C A 12: 116,327,079 (GRCm39) T549K probably benign Het
Garin5a T C 7: 44,149,704 (GRCm39) F142L probably damaging Het
Gatm T C 2: 122,426,018 (GRCm39) D411G probably damaging Het
Gpr65 T C 12: 98,241,415 (GRCm39) Y23H probably damaging Het
Itpr1 A G 6: 108,415,321 (GRCm39) R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,518,660 (GRCm39) probably benign Het
Map3k19 A C 1: 127,751,492 (GRCm39) S620A probably damaging Het
Mfsd2a A T 4: 122,845,660 (GRCm39) C164S probably benign Het
Mta1 C A 12: 113,095,298 (GRCm39) R484S probably damaging Het
Nlrp9a T G 7: 26,256,678 (GRCm39) F99V probably benign Het
Notch2 G A 3: 98,031,537 (GRCm39) C1137Y probably damaging Het
Or51a6 A T 7: 102,604,448 (GRCm39) M120K probably damaging Het
Pcnx1 A G 12: 81,964,780 (GRCm39) T316A probably benign Het
Peds1 A C 2: 167,486,879 (GRCm39) Y167D probably benign Het
Phf11a A G 14: 59,515,018 (GRCm39) V221A probably benign Het
Pigb A G 9: 72,929,602 (GRCm39) L327P possibly damaging Het
Rab3c A T 13: 110,317,554 (GRCm39) Y110* probably null Het
Sdk2 G A 11: 113,742,539 (GRCm39) T790M probably damaging Het
Skic3 A G 13: 76,261,222 (GRCm39) K131R probably benign Het
Slc22a2 C T 17: 12,824,917 (GRCm39) P260S probably damaging Het
Sppl2a T C 2: 126,755,201 (GRCm39) probably null Het
Tnn T A 1: 159,934,630 (GRCm39) Q1261L probably damaging Het
Treml4 C A 17: 48,571,745 (GRCm39) Y49* probably null Het
Ubr3 T C 2: 69,851,523 (GRCm39) I1827T probably damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Wls C A 3: 159,578,761 (GRCm39) Q108K probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp39 A T 11: 58,782,228 (GRCm39) V178D probably damaging Het
Zfp777 C A 6: 48,021,559 (GRCm39) R21L probably benign 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
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
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'- TAAATTCCATACGGAGGACATAGACC -3'
(R):5'- GGCATTTCATATGGTCTACTTTCTG -3'

Sequencing Primer
(F):5'- CCATACGGAGGACATAGACCTTTTTG -3'
(R):5'- TTTCTAGGGGAATCTCACC -3'
Posted On 2020-06-30