Incidental Mutation 'R3417:Mcm9'
ID 266853
Institutional Source Beutler Lab
Gene Symbol Mcm9
Ensembl Gene ENSMUSG00000058298
Gene Name minichromosome maintenance 9 homologous recombination repair factor
Synonyms 9030408O17Rik, Mcmdc1
MMRRC Submission 040635-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3417 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 53412411-53506535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53413503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1264 (T1264A)
Ref Sequence ENSEMBL: ENSMUSP00000074978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075540] [ENSMUST00000219547] [ENSMUST00000220007]
AlphaFold Q2KHI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000075540
AA Change: T1264A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: T1264A

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 possibly damaging
Transcript: ENSMUST00000219547
AA Change: T526A

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220007
AA Change: T526A

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,224,302 (GRCm39) probably benign Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Ankar A G 1: 72,698,135 (GRCm39) probably null Het
Ankrd17 G A 5: 90,391,772 (GRCm39) T1857I possibly damaging Het
Atp6v0d2 A G 4: 19,888,829 (GRCm39) probably benign Het
Cep170 G T 1: 176,583,610 (GRCm39) P923Q probably damaging Het
Cfc1 A T 1: 34,575,457 (GRCm39) R44* probably null Het
Col6a1 C T 10: 76,548,203 (GRCm39) V618M unknown Het
Crmp1 A T 5: 37,426,031 (GRCm39) I159L possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyp4f39 T C 17: 32,708,716 (GRCm39) V421A possibly damaging Het
Ero1a T C 14: 45,525,323 (GRCm39) T401A possibly damaging Het
Exoc6b C G 6: 84,867,547 (GRCm39) L288F possibly damaging Het
Fsip2 G A 2: 82,816,854 (GRCm39) V4196I possibly damaging Het
Icosl A T 10: 77,907,869 (GRCm39) N143I possibly damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Irag1 T C 7: 110,476,161 (GRCm39) T597A possibly damaging Het
Jrk A G 15: 74,578,734 (GRCm39) Y184H probably damaging Het
Kdm5b T C 1: 134,515,715 (GRCm39) L113P probably damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Lrp12 A G 15: 39,741,678 (GRCm39) F365L probably damaging Het
Lrrc37 A T 11: 103,505,435 (GRCm39) S2178T possibly damaging Het
Map4k5 A T 12: 69,856,038 (GRCm39) V716E probably damaging Het
Mia3 T A 1: 183,143,444 (GRCm39) D100V probably damaging Het
Mrgprb2 C A 7: 48,202,281 (GRCm39) R148L probably damaging Het
Mterf1a A G 5: 3,940,795 (GRCm39) S358P probably damaging Het
Myd88 T C 9: 119,166,556 (GRCm39) I253V possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nqo2 G T 13: 34,163,616 (GRCm39) V92L probably benign Het
Or4k2 T A 14: 50,424,069 (GRCm39) T202S possibly damaging Het
Pcdhb15 A T 18: 37,608,216 (GRCm39) N483Y probably damaging Het
Pds5a A G 5: 65,795,235 (GRCm39) F667S probably damaging Het
Plxnb1 C A 9: 108,929,828 (GRCm39) A228E probably damaging Het
Prpsap1 T C 11: 116,369,410 (GRCm39) S179G probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn8a A G 15: 100,869,549 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc44a1 G A 4: 53,553,549 (GRCm39) V519I probably benign Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Sptlc2 A G 12: 87,393,582 (GRCm39) probably benign Het
St13 A T 15: 81,253,651 (GRCm39) probably benign Het
Strbp C G 2: 37,480,737 (GRCm39) R610T possibly damaging Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tex55 A C 16: 38,649,102 (GRCm39) D2E probably benign Het
Tgm3 G A 2: 129,889,692 (GRCm39) V629M possibly damaging Het
Tnr T C 1: 159,722,612 (GRCm39) V1019A probably benign Het
Ttn A T 2: 76,615,908 (GRCm39) C14932* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M 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
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'- CACTGTGTGCACACCTGTAG -3'
(R):5'- AGGTTCATGCTGGCACCATAG -3'

Sequencing Primer
(F):5'- GCCACTTGTATACTTTGAAGGCAC -3'
(R):5'- CCAGACTGGCAAGCTTCTC -3'
Posted On 2015-02-18