Incidental Mutation 'R8523:Mcmdc2'
ID 658616
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: 0.067) question?
Stock # R8523 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 9908638-9942085 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) G to A at 9911721 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000120858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052843] [ENSMUST00000118098] [ENSMUST00000125294] [ENSMUST00000140948] [ENSMUST00000171802]
AlphaFold E9Q956
Predicted Effect probably null
Transcript: ENSMUST00000052843
AA Change: M1I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054715
Gene: ENSMUSG00000046101
AA Change: M1I

DomainStartEndE-ValueType
Blast:MCM 101 345 1e-140 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000118098
AA Change: M1I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000112851
Gene: ENSMUSG00000046101
AA Change: M1I

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000125294
AA Change: M1I

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: M1I

DomainStartEndE-ValueType
Blast:MCM 115 236 3e-73 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000140948
AA Change: M1I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: M1I

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000171802
AA Change: M1I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: M1I

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: 98.8%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 G A 7: 75,730,465 R462H probably damaging Het
Ammecr1l T C 18: 31,772,099 F131S probably damaging Het
Apbb1ip A C 2: 22,819,636 D35A unknown Het
Arhgap12 A T 18: 6,111,976 D129E probably benign Het
Arpc1b A G 5: 145,124,682 D163G probably damaging Het
Atxn7l1 A T 12: 33,346,024 T251S probably benign Het
BC030499 A T 11: 78,293,384 M225L probably benign Het
Best1 T C 19: 9,991,663 I230V possibly damaging Het
Brca2 A G 5: 150,560,148 T2888A possibly damaging Het
Cad T C 5: 31,058,106 V87A probably damaging Het
Ccdc39 C T 3: 33,815,411 probably null Het
Clcn1 T A 6: 42,307,589 C548* probably null Het
Col18a1 A G 10: 77,054,234 S1678P probably damaging Het
Col6a6 T C 9: 105,774,788 N1008S possibly damaging Het
Defb41 A T 1: 18,251,295 C32S possibly damaging Het
Dnah6 T C 6: 73,095,188 N2437S probably damaging Het
Drosha T C 15: 12,834,322 Y171H unknown Het
Ehd1 T C 19: 6,294,583 L291P probably damaging Het
Eif3c A T 7: 126,547,897 H734Q possibly damaging Het
Erich5 A T 15: 34,471,356 T244S probably benign Het
Fam186b T A 15: 99,279,732 H571L probably benign Het
Fer1l5 A G 1: 36,387,190 K360E probably benign Het
Fga A T 3: 83,030,851 I178F probably damaging Het
Gale A T 4: 135,967,676 T320S probably benign Het
Gm11232 A T 4: 71,757,228 S99T probably benign Het
Gm8251 A T 1: 44,060,834 I368K possibly damaging Het
Gpr137 C T 19: 6,940,435 W94* probably null Het
Grm7 T A 6: 111,246,319 M440K possibly damaging Het
Hacd4 A G 4: 88,435,049 F69L probably damaging Het
Hdac7 T A 15: 97,808,370 H304L probably damaging Het
Herc1 T A 9: 66,450,942 I2435N probably benign Het
Itgb7 G A 15: 102,216,522 R755W probably damaging Het
Kdm3b G T 18: 34,793,076 A90S probably benign Het
Mitd1 A G 1: 37,879,558 probably null Het
Myh10 A T 11: 68,797,409 Q1232L probably benign Het
Myo1a C A 10: 127,711,158 N362K probably damaging Het
N4bp1 G A 8: 86,853,161 T671I probably damaging Het
Nav3 A T 10: 109,823,277 D826E probably damaging Het
Negr1 C T 3: 157,160,660 T282M probably damaging Het
Notch1 G A 2: 26,464,905 H1837Y possibly damaging Het
Olfr1025-ps1 T A 2: 85,918,063 I46N probably damaging Het
Olfr164 A T 16: 19,286,101 V214E probably benign Het
Olfr603 A T 7: 103,383,206 F265L probably benign Het
Olfr873 A G 9: 20,300,797 N200S probably benign Het
Pard6a T C 8: 105,702,249 C47R probably benign Het
Parp2 T C 14: 50,819,790 probably null Het
Pck1 C A 2: 173,157,271 A410D probably damaging Het
Pdzph1 G A 17: 58,884,013 L85F probably damaging Het
Piezo2 A G 18: 63,146,802 S1P probably damaging Het
Pld1 T A 3: 28,085,876 V615D probably damaging Het
Plekha7 T G 7: 116,307,929 I23L probably benign Het
Prkcz T G 4: 155,262,511 D388A probably damaging Het
Rab36 A G 10: 75,052,503 R260G probably benign Het
Reln C A 5: 22,004,231 R1116S probably damaging Het
Rundc3b T G 5: 8,569,505 K151Q probably damaging Het
Scaf11 A G 15: 96,419,107 S859P probably damaging Het
Slc25a32 C T 15: 39,099,886 R180H probably benign Het
Slc4a9 G A 18: 36,532,143 G443E possibly damaging Het
Slmap T A 14: 26,429,810 K534N probably damaging Het
Sncaip G A 18: 52,838,016 A3T probably damaging Het
Spata31d1c G T 13: 65,033,177 S30I probably damaging Het
Srrm1 A T 4: 135,324,002 V789E unknown Het
Srrm2 A T 17: 23,808,515 probably benign Het
St7l T C 3: 104,868,057 F83S probably damaging Het
Taf15 C T 11: 83,484,852 Q48* probably null Het
Tek A T 4: 94,799,166 D172V probably benign Het
Tmem232 T C 17: 65,478,371 Y198C probably damaging Het
Tns3 A T 11: 8,448,779 V1191E probably damaging Het
Togaram1 A G 12: 65,020,314 D1710G probably damaging Het
Trav16d-dv11 T C 14: 53,047,665 I66T probably benign Het
Ttn T A 2: 76,746,945 T24535S possibly damaging Het
Ttn A T 2: 76,899,743 L911* probably null Het
Ube4a A G 9: 44,949,832 S227P probably damaging Het
Ubqln1 T C 13: 58,191,755 T352A probably benign Het
Vmn1r174 C T 7: 23,754,757 P283S probably damaging Het
Vmn1r59 T C 7: 5,454,054 T236A probably damaging Het
Vmn2r3 T C 3: 64,274,890 I463V probably benign Het
Wdr95 A G 5: 149,573,996 D213G probably damaging Het
Zbtb49 T A 5: 38,213,325 H404L probably damaging Het
Zfp879 A G 11: 50,837,930 M79T probably benign Het
Zmiz2 G A 11: 6,402,441 C600Y 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
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'- GGGTTCAATCAATGGCTAGGTTTC -3'
(R):5'- TGAATAACAGGATGATTGTGTGCAC -3'

Sequencing Primer
(F):5'- AATCAATGGCTAGGTTTCTCTTTC -3'
(R):5'- AACAGGATGATTGTGTGCACACTTG -3'
Posted On 2021-01-18