Incidental Mutation 'R9244:Mcmdc2'
ID 701125
Institutional Source Beutler Lab
Gene Symbol Mcmdc2
Ensembl Gene ENSMUSG00000046101
Gene Name minichromosome maintenance domain containing 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R9244 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 9908638-9942085 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 9915610 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 127 (T127I)
Ref Sequence ENSEMBL: ENSMUSP00000054715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052843] [ENSMUST00000118098] [ENSMUST00000125294] [ENSMUST00000140948] [ENSMUST00000171802]
AlphaFold E9Q956
Predicted Effect probably damaging
Transcript: ENSMUST00000052843
AA Change: T127I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054715
Gene: ENSMUSG00000046101
AA Change: T127I

DomainStartEndE-ValueType
Blast:MCM 101 345 1e-140 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000118098
AA Change: T141I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112851
Gene: ENSMUSG00000046101
AA Change: T141I

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000125294
AA Change: T141I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: T141I

DomainStartEndE-ValueType
Blast:MCM 115 236 3e-73 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000140948
AA Change: T141I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: T141I

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000171802
AA Change: T141I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: T141I

DomainStartEndE-ValueType
Pfam:MCM 503 623 1.4e-9 PFAM
low complexity region 658 665 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: Homozygous knockout mice of both sexes are sterile as a result of abnormal meiosis. This in turn is caused by defective double-strand break DNA repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,410,700 Y207C probably damaging Het
Abca13 A G 11: 9,291,577 I1147V probably benign Het
Adcy10 A G 1: 165,543,110 T653A probably benign Het
App A G 16: 84,962,741 I656T probably damaging Het
Arnt T A 3: 95,490,568 I574N possibly damaging Het
Cdc42 T C 4: 137,329,080 T75A probably benign Het
Cdh23 C A 10: 60,413,663 K822N possibly damaging Het
Chrnb3 T A 8: 27,394,566 L444I unknown Het
Ctnnbl1 G T 2: 157,836,663 K395N possibly damaging Het
Dmxl1 T A 18: 49,893,249 I1808K probably benign Het
Dnajb8 C A 6: 88,222,902 P140Q probably damaging Het
Dock5 G A 14: 67,759,114 R1727W probably damaging Het
Dscam G A 16: 96,685,229 T1082I possibly damaging Het
Eaf1 T C 14: 31,497,809 probably benign Het
Enpp3 T C 10: 24,778,791 D663G probably damaging Het
Epha5 A G 5: 84,117,582 V451A probably benign Het
Erap1 G A 13: 74,673,784 probably null Het
Esco2 A G 14: 65,821,639 W530R probably damaging Het
Fam160a2 A G 7: 105,389,663 V123A possibly damaging Het
Fhod3 T C 18: 25,115,865 I1367T probably damaging Het
Fryl T C 5: 73,191,519 probably benign Het
Gm15448 T C 7: 3,822,227 D472G unknown Het
Gm42669 A G 5: 107,508,504 T295A possibly damaging Het
Harbi1 A G 2: 91,712,695 N167S probably damaging Het
Hfm1 A C 5: 106,874,900 N945K probably damaging Het
Hook3 A G 8: 26,071,056 probably null Het
Htr1f G T 16: 64,926,494 T145K probably benign Het
Igf2bp2 A C 16: 22,068,151 S453A possibly damaging Het
Ipo4 A T 14: 55,634,342 W116R probably damaging Het
Jak1 T C 4: 101,157,843 H917R probably benign Het
Klrb1b A T 6: 128,815,282 C189* probably null Het
Lrrn2 A G 1: 132,937,320 Y41C probably damaging Het
Lrrn2 T C 1: 132,937,499 S101P probably damaging Het
Mtch1 C A 17: 29,347,652 A46S unknown Het
Ndufb5 C A 3: 32,741,757 Q33K probably null Het
Nufip2 T C 11: 77,692,649 V463A probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,595,266 probably benign Het
Olfr1062 A T 2: 86,423,079 V199E probably damaging Het
Olfr212 G A 6: 116,515,821 V15I probably benign Het
Olfr457 T A 6: 42,471,603 I192F possibly damaging Het
Olfr486 A G 7: 108,172,645 I33T probably benign Het
Ppip5k1 A C 2: 121,334,451 S972A probably benign Het
Prl8a2 A T 13: 27,350,999 M86L probably benign Het
Prorsd1 T C 11: 29,513,271 I164V probably benign Het
Ptgs1 A G 2: 36,240,712 T208A probably damaging Het
Ptpn3 A T 4: 57,254,915 probably null Het
Reln T C 5: 21,915,153 R2834G probably damaging Het
Shc4 G T 2: 125,655,669 Y373* probably null Het
Skor1 A T 9: 63,142,242 probably null Het
Slc9a4 T C 1: 40,619,089 S591P probably damaging Het
Stat2 A G 10: 128,282,765 E389G possibly damaging Het
Trav14n-3 C A 14: 53,370,547 D111E probably damaging Het
Unc5c A G 3: 141,827,609 S873G probably benign Het
Vmn1r210 T C 13: 22,827,919 I66V probably benign Het
Vmn2r117 T A 17: 23,477,615 I273F probably damaging Het
Vmn2r95 T A 17: 18,451,927 M714K possibly damaging Het
Wrb A G 16: 96,154,183 T147A probably benign Het
Zfp235 A G 7: 24,140,494 T113A probably benign Het
Zranb1 T G 7: 132,983,911 L696R probably damaging Het
Other mutations in Mcmdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Mcmdc2 APN 1 9911982 missense possibly damaging 0.85
IGL03087:Mcmdc2 APN 1 9930945 missense possibly damaging 0.78
IGL03230:Mcmdc2 APN 1 9931996 unclassified probably benign
R0313:Mcmdc2 UTSW 1 9932141 missense probably damaging 1.00
R0448:Mcmdc2 UTSW 1 9940542 makesense probably null
R0685:Mcmdc2 UTSW 1 9911814 critical splice donor site probably null
R0926:Mcmdc2 UTSW 1 9920576 nonsense probably null
R1590:Mcmdc2 UTSW 1 9916555 nonsense probably null
R1867:Mcmdc2 UTSW 1 9930805 missense probably damaging 1.00
R2356:Mcmdc2 UTSW 1 9930801 missense possibly damaging 0.76
R5199:Mcmdc2 UTSW 1 9920435 missense probably benign 0.37
R5341:Mcmdc2 UTSW 1 9940917 frame shift probably null
R5459:Mcmdc2 UTSW 1 9937084 missense probably benign 0.06
R5748:Mcmdc2 UTSW 1 9911807 missense probably damaging 1.00
R6808:Mcmdc2 UTSW 1 9934017 missense probably damaging 1.00
R6908:Mcmdc2 UTSW 1 9930778 splice site probably null
R7123:Mcmdc2 UTSW 1 9940418 missense unknown
R7233:Mcmdc2 UTSW 1 9932183 critical splice donor site probably null
R7498:Mcmdc2 UTSW 1 9919077 missense probably benign
R7646:Mcmdc2 UTSW 1 9912135 missense possibly damaging 0.53
R7834:Mcmdc2 UTSW 1 9912174 critical splice donor site probably null
R8118:Mcmdc2 UTSW 1 9916374 missense possibly damaging 0.68
R8194:Mcmdc2 UTSW 1 9916642 missense probably benign
R8283:Mcmdc2 UTSW 1 9934038 missense possibly damaging 0.85
R8434:Mcmdc2 UTSW 1 9920581 missense possibly damaging 0.63
R8523:Mcmdc2 UTSW 1 9911721 start codon destroyed probably null 0.87
R9281:Mcmdc2 UTSW 1 9924200 missense probably damaging 1.00
X0025:Mcmdc2 UTSW 1 9911966 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCAAGTCAAATTGGATTGCAAC -3'
(R):5'- TGTGGAGTGCAGCGAAGATC -3'

Sequencing Primer
(F):5'- AGTCAAATTGGATTGCAACTTTTAC -3'
(R):5'- AGTGCAGCGAAGATCGTTTC -3'
Posted On 2022-03-25