Incidental Mutation 'R0313:Mcmdc2'
ID 25301
Institutional Source Beutler Lab
Gene Symbol Mcmdc2
Ensembl Gene ENSMUSG00000046101
Gene Name minichromosome maintenance domain containing 2
Synonyms
MMRRC Submission 038523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0313 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 9908638-9942085 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9932141 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 529 (Y529C)
Ref Sequence ENSEMBL: ENSMUSP00000120858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125294] [ENSMUST00000140948] [ENSMUST00000171802]
AlphaFold E9Q956
Predicted Effect probably damaging
Transcript: ENSMUST00000125294
AA Change: Y529C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: Y529C

DomainStartEndE-ValueType
Blast:MCM 115 236 3e-73 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000140948
AA Change: Y529C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: Y529C

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000171802
AA Change: Y529C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: Y529C

DomainStartEndE-ValueType
Pfam:MCM 503 623 1.4e-9 PFAM
low complexity region 658 665 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000183059
AA Change: Y7C
Meta Mutation Damage Score 0.3281 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.9%
  • 20x: 88.5%
Validation Efficiency 98% (40/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,672,097 E309G probably benign Het
AI314180 A G 4: 58,811,892 I1411T probably benign Het
Ankmy1 C T 1: 92,886,221 G412D probably damaging Het
Cc2d1a G A 8: 84,136,969 T542I probably benign Het
Cldn18 T C 9: 99,698,914 I94V probably benign Het
Cobll1 G A 2: 65,095,744 R1195* probably null Het
Dnah7b A G 1: 46,207,643 T1660A probably damaging Het
Dzip3 G T 16: 48,937,061 Q870K probably damaging Het
Ebf4 T C 2: 130,306,787 probably benign Het
Esyt2 T C 12: 116,347,808 L439P probably damaging Het
Fbxl17 G A 17: 63,356,851 R67C probably damaging Het
Haspin A G 11: 73,136,298 V655A probably damaging Het
Kmt2c T C 5: 25,344,930 E1351G probably damaging Het
Lama2 C A 10: 26,993,398 probably null Het
Lcp1 A G 14: 75,199,433 E73G probably damaging Het
Ltv1 C T 10: 13,182,860 probably null Het
Myo3b T A 2: 70,348,959 Y1172* probably null Het
Ncf1 T C 5: 134,229,567 M1V probably null Het
Olfr1297 C T 2: 111,621,600 S158N possibly damaging Het
Olfr250 T C 9: 38,368,304 S243P probably damaging Het
Olfr765 A G 10: 129,046,826 V79A possibly damaging Het
Pcif1 A T 2: 164,884,419 H80L probably damaging Het
Pclo T C 5: 14,678,873 probably benign Het
Polr2a T C 11: 69,735,080 Y1710C unknown Het
Ppp1r37 G A 7: 19,533,998 T324I probably damaging Het
Prmt1 T C 7: 44,978,748 D176G probably benign Het
Scn5a T C 9: 119,534,571 D501G probably damaging Het
Ska2 A G 11: 87,117,814 I89M possibly damaging Het
Slc39a7 G A 17: 34,029,544 A375V probably damaging Het
Ssrp1 T A 2: 85,041,554 I374N probably damaging Het
Stox2 C T 8: 47,192,134 G828R probably damaging Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Uqcrc1 C A 9: 108,948,574 R114S possibly damaging Het
Usp38 A T 8: 80,984,442 L988* probably null Het
Vmn2r5 T A 3: 64,503,827 H440L probably benign Het
Wdr12 A T 1: 60,082,579 I271N possibly damaging Het
Xylt2 C T 11: 94,669,894 probably benign 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
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
R9244:Mcmdc2 UTSW 1 9915610 missense probably damaging 1.00
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'- GTCTGAGCTACATCCCACCCCTAAA -3'
(R):5'- tgtgtcaacacacatgcaAAATACATGC -3'

Sequencing Primer
(F):5'- caccactgagattacaagcac -3'
(R):5'- TGCATGGGCACATACACA -3'
Posted On 2013-04-16