Incidental Mutation 'IGL01019:Mcm9'
ID 53838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcm9
Ensembl Gene ENSMUSG00000058298
Gene Name minichromosome maintenance 9 homologous recombination repair factor
Synonyms 9030408O17Rik, Mcmdc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01019
Quality Score
Status
Chromosome 10
Chromosomal Location 53412411-53506535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 53506041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 78 (G78C)
Ref Sequence ENSEMBL: ENSMUSP00000151639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000075540] [ENSMUST00000163761] [ENSMUST00000164393] [ENSMUST00000169866] [ENSMUST00000219838] [ENSMUST00000218682] [ENSMUST00000217939] [ENSMUST00000171807] [ENSMUST00000218659]
AlphaFold Q2KHI9
Predicted Effect probably benign
Transcript: ENSMUST00000020003
SMART Domains Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856

DomainStartEndE-ValueType
Pfam:FAM184 57 267 1.5e-84 PFAM
low complexity region 436 449 N/A INTRINSIC
Blast:HisKA 533 598 4e-6 BLAST
coiled coil region 656 788 N/A INTRINSIC
internal_repeat_2 795 864 2.49e-6 PROSPERO
internal_repeat_1 800 866 4.75e-7 PROSPERO
coiled coil region 960 983 N/A INTRINSIC
low complexity region 1101 1113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000075540
AA Change: G78C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
AA Change: G78C

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: ENSMUST00000163761
SMART Domains Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856

DomainStartEndE-ValueType
coiled coil region 4 88 N/A INTRINSIC
internal_repeat_1 99 167 6.86e-8 PROSPERO
internal_repeat_2 105 173 4e-7 PROSPERO
low complexity region 380 393 N/A INTRINSIC
Blast:HisKA 480 542 5e-6 BLAST
coiled coil region 600 732 N/A INTRINSIC
internal_repeat_2 739 808 4e-7 PROSPERO
internal_repeat_1 744 810 6.86e-8 PROSPERO
low complexity region 906 916 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164393
Predicted Effect probably benign
Transcript: ENSMUST00000165986
SMART Domains Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856

DomainStartEndE-ValueType
coiled coil region 9 40 N/A INTRINSIC
coiled coil region 102 166 N/A INTRINSIC
coiled coil region 212 235 N/A INTRINSIC
low complexity region 354 366 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169866
SMART Domains Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856

DomainStartEndE-ValueType
coiled coil region 18 41 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000218549
AA Change: G5C
Predicted Effect probably damaging
Transcript: ENSMUST00000219838
AA Change: G78C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000218682
Predicted Effect probably benign
Transcript: ENSMUST00000217939
Predicted Effect probably benign
Transcript: ENSMUST00000218780
Predicted Effect probably benign
Transcript: ENSMUST00000171807
SMART Domains Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
Pfam:DUF3090 64 159 5.9e-8 PFAM
low complexity region 303 343 N/A INTRINSIC
low complexity region 358 364 N/A INTRINSIC
internal_repeat_1 383 410 4.35e-5 PROSPERO
internal_repeat_1 424 451 4.35e-5 PROSPERO
low complexity region 648 660 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218659
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably 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
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
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
Posted On 2013-06-28