Incidental Mutation 'R8283:Mcmdc2'
ID 638285
Institutional Source Beutler Lab
Gene Symbol Mcmdc2
Ensembl Gene ENSMUSG00000046101
Gene Name minichromosome maintenance domain containing 2
Synonyms 6030422M02Rik
MMRRC Submission 067706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 9978863-10011179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 10004263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 581 (K581T)
Ref Sequence ENSEMBL: ENSMUSP00000120577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125294] [ENSMUST00000140948] [ENSMUST00000171802]
AlphaFold E9Q956
Predicted Effect probably benign
Transcript: ENSMUST00000125294
AA Change: K581T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: K581T

DomainStartEndE-ValueType
Blast:MCM 115 236 3e-73 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000140948
AA Change: K581T

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: K581T

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000171802
AA Change: K581T

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: K581T

DomainStartEndE-ValueType
Pfam:MCM 503 623 1.4e-9 PFAM
low complexity region 658 665 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183059
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,856,086 (GRCm39) P65S probably damaging Het
Adcy3 A T 12: 4,250,935 (GRCm39) R565W probably damaging Het
Arl14 A T 3: 69,129,868 (GRCm39) N5I probably benign Het
Arl6ip6 A G 2: 53,082,250 (GRCm39) E39G possibly damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Boc A T 16: 44,340,800 (GRCm39) L50Q noncoding transcript Het
Calml3 A G 13: 3,854,097 (GRCm39) V36A probably damaging Het
Ccdc183 G A 2: 25,502,160 (GRCm39) A238V probably damaging Het
Ccndbp1 A G 2: 120,839,065 (GRCm39) probably benign Het
Ccr9 A G 9: 123,608,696 (GRCm39) Y126C probably damaging Het
Cdhr1 T C 14: 36,804,737 (GRCm39) N491S probably benign Het
Celsr2 C T 3: 108,303,771 (GRCm39) G2429D probably damaging Het
Cts6 T C 13: 61,349,457 (GRCm39) T84A probably damaging Het
Dcpp2 T C 17: 24,118,384 (GRCm39) probably null Het
Drosha A G 15: 12,890,587 (GRCm39) I945V possibly damaging Het
Dsg1b A G 18: 20,524,963 (GRCm39) Q133R probably benign Het
Enpp1 T A 10: 24,550,554 (GRCm39) E174D probably benign Het
Esrrb A G 12: 86,468,732 (GRCm39) H15R probably benign Het
Fbxl12 T C 9: 20,550,017 (GRCm39) T213A probably benign Het
Fnbp4 C A 2: 90,577,115 (GRCm39) T149K probably damaging Het
Foxj1 A T 11: 116,224,893 (GRCm39) F158Y probably benign Het
Frrs1 A G 3: 116,671,952 (GRCm39) T17A probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm45844 T C 7: 7,244,901 (GRCm39) Y11C possibly damaging Het
Hnrnpl T C 7: 28,513,697 (GRCm39) V220A Het
Iars2 T A 1: 185,020,288 (GRCm39) R949* probably null Het
Ice1 T C 13: 70,752,549 (GRCm39) E1179G probably damaging Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Men1 A T 19: 6,386,848 (GRCm39) D186V probably damaging Het
Morc2b T G 17: 33,355,675 (GRCm39) N699T probably benign Het
Mrgpra2b A G 7: 47,114,465 (GRCm39) L89P probably damaging Het
Naip1 C T 13: 100,563,695 (GRCm39) G490E probably damaging Het
Ntm T C 9: 28,923,508 (GRCm39) Y224C probably damaging Het
Nup88 A T 11: 70,849,166 (GRCm39) D262E probably benign Het
Or10ag52 T C 2: 87,043,683 (GRCm39) V149A probably benign Het
Or51l4 T A 7: 103,404,019 (GRCm39) I258L possibly damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Oscp1 A G 4: 125,980,393 (GRCm39) M293V probably benign Het
Pcdhgc3 C A 18: 37,940,694 (GRCm39) A365D probably damaging Het
Pcyt2 A T 11: 120,501,548 (GRCm39) F388I probably benign Het
Pgm2l1 C G 7: 99,902,460 (GRCm39) A136G probably benign Het
Phf14 T G 6: 11,987,636 (GRCm39) D638E probably benign Het
Pnpla7 A G 2: 24,940,935 (GRCm39) K1096E probably damaging Het
Prkcb T A 7: 122,199,948 (GRCm39) C586* probably null Het
Rnf187 T A 11: 58,829,241 (GRCm39) R124W probably damaging Het
Sema3a T C 5: 13,450,030 (GRCm39) Y36H probably damaging Het
Setd7 T G 3: 51,428,796 (GRCm39) S345R probably benign Het
Sgms1 T C 19: 32,137,035 (GRCm39) D177G probably damaging Het
Snx19 T C 9: 30,374,522 (GRCm39) L927S possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sorl1 T C 9: 41,942,294 (GRCm39) D977G probably damaging Het
Sptan1 C T 2: 29,870,212 (GRCm39) R121W probably damaging Het
Srgap2 T C 1: 131,291,771 (GRCm39) D152G probably damaging Het
Suclg2 T A 6: 95,474,700 (GRCm39) probably null Het
Tacc2 T C 7: 130,227,034 (GRCm39) S1240P probably benign Het
Tbc1d12 C T 19: 38,825,353 (GRCm39) A68V probably benign Het
Tex14 G A 11: 87,365,241 (GRCm39) D62N probably damaging Het
Thyn1 C T 9: 26,918,155 (GRCm39) T181I probably benign Het
Trio T A 15: 27,756,628 (GRCm39) H2056L possibly damaging Het
Ubn2 T A 6: 38,475,663 (GRCm39) L1207Q probably damaging Het
Usp17lb T C 7: 104,490,013 (GRCm39) S305G probably damaging Het
Vmn2r101 T A 17: 19,832,253 (GRCm39) Y750N probably damaging Het
Wif1 G A 10: 120,931,952 (GRCm39) S292N probably benign Het
Xpo6 T G 7: 125,727,421 (GRCm39) Q528H possibly damaging Het
Other mutations in Mcmdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Mcmdc2 APN 1 9,982,207 (GRCm39) missense possibly damaging 0.85
IGL03087:Mcmdc2 APN 1 10,001,170 (GRCm39) missense possibly damaging 0.78
IGL03230:Mcmdc2 APN 1 10,002,221 (GRCm39) unclassified probably benign
R0313:Mcmdc2 UTSW 1 10,002,366 (GRCm39) missense probably damaging 1.00
R0448:Mcmdc2 UTSW 1 10,010,767 (GRCm39) makesense probably null
R0685:Mcmdc2 UTSW 1 9,982,039 (GRCm39) critical splice donor site probably null
R0926:Mcmdc2 UTSW 1 9,990,801 (GRCm39) nonsense probably null
R1590:Mcmdc2 UTSW 1 9,986,780 (GRCm39) nonsense probably null
R1867:Mcmdc2 UTSW 1 10,001,030 (GRCm39) missense probably damaging 1.00
R2356:Mcmdc2 UTSW 1 10,001,026 (GRCm39) missense possibly damaging 0.76
R5199:Mcmdc2 UTSW 1 9,990,660 (GRCm39) missense probably benign 0.37
R5341:Mcmdc2 UTSW 1 10,011,142 (GRCm39) frame shift probably null
R5459:Mcmdc2 UTSW 1 10,007,309 (GRCm39) missense probably benign 0.06
R5748:Mcmdc2 UTSW 1 9,982,032 (GRCm39) missense probably damaging 1.00
R6808:Mcmdc2 UTSW 1 10,004,242 (GRCm39) missense probably damaging 1.00
R6908:Mcmdc2 UTSW 1 10,001,003 (GRCm39) splice site probably null
R7123:Mcmdc2 UTSW 1 10,010,643 (GRCm39) missense unknown
R7233:Mcmdc2 UTSW 1 10,002,408 (GRCm39) critical splice donor site probably null
R7498:Mcmdc2 UTSW 1 9,989,302 (GRCm39) missense probably benign
R7646:Mcmdc2 UTSW 1 9,982,360 (GRCm39) missense possibly damaging 0.53
R7834:Mcmdc2 UTSW 1 9,982,399 (GRCm39) critical splice donor site probably null
R8118:Mcmdc2 UTSW 1 9,986,599 (GRCm39) missense possibly damaging 0.68
R8194:Mcmdc2 UTSW 1 9,986,867 (GRCm39) missense probably benign
R8434:Mcmdc2 UTSW 1 9,990,806 (GRCm39) missense possibly damaging 0.63
R8523:Mcmdc2 UTSW 1 9,981,946 (GRCm39) start codon destroyed probably null 0.87
R9244:Mcmdc2 UTSW 1 9,985,835 (GRCm39) missense probably damaging 1.00
R9281:Mcmdc2 UTSW 1 9,994,425 (GRCm39) missense probably damaging 1.00
X0025:Mcmdc2 UTSW 1 9,982,191 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AATCACATGCCAGCACTTTG -3'
(R):5'- CTGATGTGGCTGTCATTAAGTC -3'

Sequencing Primer
(F):5'- CATGCCAGCACTTTGATATTATAATG -3'
(R):5'- TTCAGACCTTCGGAAGAGCAGTC -3'
Posted On 2020-07-28