Incidental Mutation 'IGL02982:Mcm9'
ID 406595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm9
Ensembl Gene ENSMUSG00000058298
Gene Name minichromosome maintenance 9 homologous recombination repair factor
Synonyms Mcmdc1, 9030408O17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02982
Quality Score
Status
Chromosome 10
Chromosomal Location 53536315-53630439 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53625826 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000074978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075540] [ENSMUST00000219838]
AlphaFold Q2KHI9
Predicted Effect probably damaging
Transcript: ENSMUST00000075540
AA Change: V221A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: V221A

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 unknown
Transcript: ENSMUST00000218549
AA Change: V148A
Predicted Effect probably damaging
Transcript: ENSMUST00000219838
AA Change: V221A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 24,804,431 (GRCm38) A384D probably benign Het
Adamts19 T A 18: 59,024,518 (GRCm38) C961S probably damaging Het
Agbl2 G A 2: 90,805,815 (GRCm38) C565Y probably damaging Het
Aox3 G A 1: 58,127,687 (GRCm38) E190K probably benign Het
Arf2 T G 11: 103,981,776 (GRCm38) D74E probably damaging Het
Bptf T G 11: 107,076,674 (GRCm38) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm38) probably benign Het
Ces1a A G 8: 93,044,975 (GRCm38) F65L probably damaging Het
Def8 T C 8: 123,456,539 (GRCm38) probably benign Het
Fat4 T C 3: 38,890,843 (GRCm38) L1295P probably damaging Het
Filip1l A G 16: 57,572,232 (GRCm38) H1061R probably damaging Het
Fut2 C T 7: 45,650,769 (GRCm38) G193E possibly damaging Het
Gldc A G 19: 30,145,145 (GRCm38) probably null Het
Gm597 T C 1: 28,778,054 (GRCm38) H299R probably damaging Het
Golgb1 A C 16: 36,925,810 (GRCm38) D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 (GRCm38) C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 (GRCm38) L252Q probably damaging Het
Iars C T 13: 49,709,709 (GRCm38) R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 (GRCm38) V399L probably benign Het
Kcnd2 A T 6: 21,217,149 (GRCm38) D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 (GRCm38) K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 (GRCm38) H155Q probably damaging Het
Myo9a A T 9: 59,908,208 (GRCm38) K2237* probably null Het
Ntf3 A T 6: 126,102,377 (GRCm38) D55E probably damaging Het
Olfr1229 G T 2: 89,283,109 (GRCm38) T29K probably damaging Het
Olfr61 A T 7: 140,637,952 (GRCm38) I84F probably benign Het
Plek T A 11: 16,981,826 (GRCm38) I342F probably damaging Het
Polrmt A G 10: 79,738,348 (GRCm38) Y853H probably damaging Het
Psg29 A G 7: 17,211,707 (GRCm38) T401A probably damaging Het
Ptprb A G 10: 116,322,628 (GRCm38) T822A probably benign Het
Ptprq A C 10: 107,586,684 (GRCm38) F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 (GRCm38) V19E probably damaging Het
Scamp2 G A 9: 57,581,549 (GRCm38) A178T probably benign Het
Spta1 A G 1: 174,187,288 (GRCm38) I445V probably benign Het
Tas2r135 A G 6: 42,406,253 (GRCm38) E242G probably benign Het
Ttc22 T C 4: 106,638,586 (GRCm38) V379A probably damaging Het
Unc5d C T 8: 28,652,853 (GRCm38) G857E probably damaging Het
Usp28 A G 9: 49,018,439 (GRCm38) I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 (GRCm38) M152K probably benign Het
Wrn C T 8: 33,343,066 (GRCm38) G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 (GRCm38) T187M probably damaging Het
Zic2 A G 14: 122,478,567 (GRCm38) E367G probably damaging Het
Other mutations in Mcm9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Mcm9 APN 10 53,622,973 (GRCm38) missense probably damaging 0.97
IGL00904:Mcm9 APN 10 53,622,921 (GRCm38) missense possibly damaging 0.89
IGL00943:Mcm9 APN 10 53,548,589 (GRCm38) missense probably damaging 1.00
IGL01019:Mcm9 APN 10 53,629,945 (GRCm38) missense probably damaging 1.00
IGL02452:Mcm9 APN 10 53,541,557 (GRCm38) missense probably damaging 1.00
IGL02481:Mcm9 APN 10 53,625,937 (GRCm38) missense probably damaging 1.00
IGL03300:Mcm9 APN 10 53,611,427 (GRCm38) missense probably damaging 1.00
R0021:Mcm9 UTSW 10 53,537,901 (GRCm38) missense possibly damaging 0.94
R0117:Mcm9 UTSW 10 53,537,736 (GRCm38) missense possibly damaging 0.49
R0137:Mcm9 UTSW 10 53,563,430 (GRCm38) missense possibly damaging 0.95
R0420:Mcm9 UTSW 10 53,548,527 (GRCm38) missense probably benign 0.10
R0499:Mcm9 UTSW 10 53,538,154 (GRCm38) missense probably benign 0.01
R0543:Mcm9 UTSW 10 53,541,598 (GRCm38) missense probably damaging 0.97
R0947:Mcm9 UTSW 10 53,537,501 (GRCm38) small deletion probably benign
R0975:Mcm9 UTSW 10 53,538,646 (GRCm38) nonsense probably null
R1573:Mcm9 UTSW 10 53,548,656 (GRCm38) missense probably damaging 0.97
R1726:Mcm9 UTSW 10 53,537,881 (GRCm38) missense possibly damaging 0.67
R1839:Mcm9 UTSW 10 53,541,553 (GRCm38) missense probably damaging 0.99
R2050:Mcm9 UTSW 10 53,612,825 (GRCm38) critical splice donor site probably null
R2113:Mcm9 UTSW 10 53,615,847 (GRCm38) splice site probably null
R2172:Mcm9 UTSW 10 53,548,574 (GRCm38) missense probably damaging 1.00
R3417:Mcm9 UTSW 10 53,537,407 (GRCm38) missense possibly damaging 0.83
R3755:Mcm9 UTSW 10 53,625,952 (GRCm38) missense probably benign 0.08
R3787:Mcm9 UTSW 10 53,615,980 (GRCm38) missense possibly damaging 0.78
R3789:Mcm9 UTSW 10 53,616,017 (GRCm38) missense probably damaging 1.00
R3953:Mcm9 UTSW 10 53,563,344 (GRCm38) missense probably damaging 1.00
R4291:Mcm9 UTSW 10 53,547,572 (GRCm38) missense probably benign 0.22
R4358:Mcm9 UTSW 10 53,537,653 (GRCm38) missense probably benign 0.03
R4660:Mcm9 UTSW 10 53,548,527 (GRCm38) missense probably benign 0.10
R4662:Mcm9 UTSW 10 53,548,527 (GRCm38) missense probably benign 0.10
R5082:Mcm9 UTSW 10 53,538,060 (GRCm38) missense possibly damaging 0.94
R5130:Mcm9 UTSW 10 53,630,399 (GRCm38) missense possibly damaging 0.90
R5193:Mcm9 UTSW 10 53,616,038 (GRCm38) missense probably damaging 0.99
R5238:Mcm9 UTSW 10 53,629,997 (GRCm38) missense possibly damaging 0.83
R5317:Mcm9 UTSW 10 53,538,234 (GRCm38) missense probably damaging 1.00
R5395:Mcm9 UTSW 10 53,538,692 (GRCm38) missense possibly damaging 0.93
R5524:Mcm9 UTSW 10 53,548,690 (GRCm38) nonsense probably null
R5593:Mcm9 UTSW 10 53,538,297 (GRCm38) missense probably damaging 0.99
R5748:Mcm9 UTSW 10 53,625,729 (GRCm38) missense probably damaging 1.00
R6025:Mcm9 UTSW 10 53,615,977 (GRCm38) missense possibly damaging 0.93
R6299:Mcm9 UTSW 10 53,537,681 (GRCm38) missense probably damaging 1.00
R6344:Mcm9 UTSW 10 53,537,937 (GRCm38) missense probably benign 0.03
R6502:Mcm9 UTSW 10 53,612,839 (GRCm38) missense probably damaging 1.00
R6621:Mcm9 UTSW 10 53,563,313 (GRCm38) missense probably damaging 1.00
R6883:Mcm9 UTSW 10 53,616,014 (GRCm38) missense probably damaging 1.00
R6932:Mcm9 UTSW 10 53,620,203 (GRCm38) missense probably benign 0.06
R6963:Mcm9 UTSW 10 53,548,617 (GRCm38) missense probably damaging 1.00
R7094:Mcm9 UTSW 10 53,620,157 (GRCm38) missense probably damaging 1.00
R7114:Mcm9 UTSW 10 53,538,573 (GRCm38) missense possibly damaging 0.55
R7200:Mcm9 UTSW 10 53,615,923 (GRCm38) missense
R7593:Mcm9 UTSW 10 53,629,992 (GRCm38) missense probably benign 0.04
R7671:Mcm9 UTSW 10 53,537,569 (GRCm38) missense probably benign 0.01
R7697:Mcm9 UTSW 10 53,615,894 (GRCm38) missense
R7997:Mcm9 UTSW 10 53,597,406 (GRCm38) start gained probably benign
R8136:Mcm9 UTSW 10 53,611,343 (GRCm38) makesense probably null
R8137:Mcm9 UTSW 10 53,622,980 (GRCm38) missense
R8494:Mcm9 UTSW 10 53,625,760 (GRCm38) missense possibly damaging 0.48
R8526:Mcm9 UTSW 10 53,630,125 (GRCm38) unclassified probably benign
R8558:Mcm9 UTSW 10 53,615,972 (GRCm38) missense probably benign 0.07
R8703:Mcm9 UTSW 10 53,629,977 (GRCm38) missense probably damaging 0.96
R8836:Mcm9 UTSW 10 53,626,034 (GRCm38) missense
R8994:Mcm9 UTSW 10 53,548,524 (GRCm38) missense probably benign 0.31
R9150:Mcm9 UTSW 10 53,626,014 (GRCm38) missense
R9564:Mcm9 UTSW 10 53,630,008 (GRCm38) missense possibly damaging 0.90
Z1176:Mcm9 UTSW 10 53,629,788 (GRCm38) frame shift probably null
Z1176:Mcm9 UTSW 10 53,537,507 (GRCm38) missense unknown
Posted On 2016-08-02