Incidental Mutation 'R8777-TAIL:Mcmbp'
ID 668117
Institutional Source Beutler Lab
Gene Symbol Mcmbp
Ensembl Gene ENSMUSG00000048170
Gene Name minichromosome maintenance complex binding protein
Synonyms 1110007A13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8777-TAIL
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 128298165-128342153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128308855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 389 (F389I)
Ref Sequence ENSEMBL: ENSMUSP00000113961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057557] [ENSMUST00000119081]
AlphaFold Q8R3C0
Predicted Effect possibly damaging
Transcript: ENSMUST00000057557
AA Change: F389I

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: F389I

DomainStartEndE-ValueType
Pfam:MCM_bind 37 166 1.6e-44 PFAM
Pfam:Racemase_4 352 451 1.5e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119081
AA Change: F389I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: F389I

DomainStartEndE-ValueType
Pfam:MCM_bind 36 588 3.6e-210 PFAM
low complexity region 603 623 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,894 (GRCm39) T816S probably benign Het
Aff4 G A 11: 53,290,783 (GRCm39) S581N probably damaging Het
Aimp2 G A 5: 143,839,825 (GRCm39) A253V probably damaging Het
Arl6ip4 T G 5: 124,254,611 (GRCm39) S35A probably benign Het
Atp1a4 A T 1: 172,059,869 (GRCm39) Y787N probably damaging Het
Btbd8 T G 5: 107,658,293 (GRCm39) I1621R probably damaging Het
Ccdc169 T C 3: 55,058,334 (GRCm39) S13P probably damaging Het
Ccdc186 G A 19: 56,801,793 (GRCm39) S108F probably damaging Het
Ccdc39 G A 3: 33,893,282 (GRCm39) T101I probably benign Het
Cdh13 G T 8: 119,963,706 (GRCm39) probably null Het
Clec1b A T 6: 129,380,537 (GRCm39) E151V probably benign Het
Cplx1 T A 5: 108,673,435 (GRCm39) probably null Het
Diablo T A 5: 123,655,990 (GRCm39) I150F unknown Het
Esp31 T C 17: 38,955,582 (GRCm39) V75A probably benign Het
Gm49336 G A 14: 60,466,185 (GRCm39) L458F probably damaging Het
Grin3b A T 10: 79,808,972 (GRCm39) S241C possibly damaging Het
Gxylt2 A G 6: 100,727,432 (GRCm39) N182S probably damaging Het
Hephl1 T G 9: 14,972,090 (GRCm39) D950A probably benign Het
Hkdc1 A G 10: 62,234,612 (GRCm39) I556T possibly damaging Het
Ints4 C A 7: 97,134,227 (GRCm39) A53D probably damaging Het
Kmt5c T C 7: 4,745,712 (GRCm39) V124A possibly damaging Het
Lrpprc T A 17: 85,058,657 (GRCm39) Q734H probably benign Het
Map1b T C 13: 99,567,304 (GRCm39) T1806A unknown Het
Mcrs1 C T 15: 99,141,237 (GRCm39) G422S probably damaging Het
Mgam A G 6: 40,632,185 (GRCm39) H173R probably damaging Het
Mib1 G A 18: 10,747,422 (GRCm39) G200S probably benign Het
Myh13 A T 11: 67,252,161 (GRCm39) Q1423L possibly damaging Het
Myh2 A G 11: 67,083,398 (GRCm39) R1454G possibly damaging Het
Mylk4 C T 13: 32,913,089 (GRCm39) V70I probably benign Het
Myof A G 19: 37,968,841 (GRCm39) V358A probably benign Het
Ncor1 T A 11: 62,324,492 (GRCm39) I48F probably benign Het
Ncor1 T A 11: 62,324,494 (GRCm39) H47L probably damaging Het
Neurog2 G T 3: 127,427,742 (GRCm39) R122L probably damaging Het
Npdc1 T A 2: 25,298,129 (GRCm39) L193Q probably damaging Het
Nrxn3 A G 12: 89,227,234 (GRCm39) N290D probably damaging Het
Nynrin T C 14: 56,109,120 (GRCm39) M1409T probably benign Het
Oas1h T C 5: 121,005,107 (GRCm39) L185P probably damaging Het
Or10x4 A T 1: 174,218,848 (GRCm39) Y71F probably damaging Het
Or2z2 C T 11: 58,346,757 (GRCm39) W6* probably null Het
Or6c3 T A 10: 129,309,374 (GRCm39) V271E possibly damaging Het
Osbpl8 T A 10: 111,128,974 (GRCm39) N853K probably benign Het
Pcsk4 G T 10: 80,159,557 (GRCm39) P405Q probably benign Het
Piwil4 A C 9: 14,650,685 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,361,967 (GRCm39) Y547H probably damaging Het
Prr36 TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC 8: 4,266,273 (GRCm39) probably benign Het
Rft1 T C 14: 30,382,156 (GRCm39) L51P probably damaging Het
Rufy2 T G 10: 62,833,660 (GRCm39) L241V possibly damaging Het
Slc5a5 T C 8: 71,343,934 (GRCm39) I155V possibly damaging Het
Slc7a2 T G 8: 41,351,991 (GRCm39) M18R probably damaging Het
Snapc4 A G 2: 26,259,375 (GRCm39) S592P probably benign Het
Strn4 T C 7: 16,550,533 (GRCm39) W86R probably damaging Het
Tenm4 A G 7: 96,545,244 (GRCm39) N2457S probably damaging Het
Tent4a T A 13: 69,658,824 (GRCm39) D337V probably damaging Het
Timd4 C A 11: 46,706,309 (GRCm39) T37N possibly damaging Het
Tmem268 T A 4: 63,496,076 (GRCm39) N172K probably damaging Het
Trrap T A 5: 144,773,949 (GRCm39) V2855D probably benign Het
Tubb6 A T 18: 67,534,598 (GRCm39) T166S probably damaging Het
Tufm A G 7: 126,088,034 (GRCm39) Y179C probably benign Het
Tut7 T C 13: 59,933,597 (GRCm39) N1302D probably benign Het
Ube2r2 C T 4: 41,190,715 (GRCm39) S203L possibly damaging Het
Vldlr G T 19: 27,217,946 (GRCm39) V465L probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r42 A G 7: 8,195,692 (GRCm39) F485L probably benign Het
Other mutations in Mcmbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Mcmbp APN 7 128,316,209 (GRCm39) nonsense probably null
IGL01511:Mcmbp APN 7 128,308,888 (GRCm39) missense probably damaging 1.00
IGL02351:Mcmbp APN 7 128,311,505 (GRCm39) critical splice donor site probably null
IGL02358:Mcmbp APN 7 128,311,505 (GRCm39) critical splice donor site probably null
IGL02470:Mcmbp APN 7 128,306,345 (GRCm39) missense possibly damaging 0.94
R1390:Mcmbp UTSW 7 128,325,865 (GRCm39) missense probably damaging 1.00
R1450:Mcmbp UTSW 7 128,317,655 (GRCm39) splice site probably benign
R1844:Mcmbp UTSW 7 128,325,698 (GRCm39) missense probably damaging 0.97
R1998:Mcmbp UTSW 7 128,310,887 (GRCm39) missense probably damaging 1.00
R2926:Mcmbp UTSW 7 128,299,738 (GRCm39) unclassified probably benign
R2943:Mcmbp UTSW 7 128,325,697 (GRCm39) missense probably damaging 1.00
R4211:Mcmbp UTSW 7 128,317,729 (GRCm39) missense possibly damaging 0.90
R4771:Mcmbp UTSW 7 128,300,124 (GRCm39) splice site probably null
R4947:Mcmbp UTSW 7 128,314,420 (GRCm39) missense probably damaging 1.00
R5428:Mcmbp UTSW 7 128,306,248 (GRCm39) missense probably benign 0.28
R5668:Mcmbp UTSW 7 128,314,478 (GRCm39) missense probably benign 0.00
R6401:Mcmbp UTSW 7 128,308,783 (GRCm39) missense possibly damaging 0.91
R6520:Mcmbp UTSW 7 128,314,451 (GRCm39) missense possibly damaging 0.58
R6885:Mcmbp UTSW 7 128,326,833 (GRCm39) splice site probably null
R6936:Mcmbp UTSW 7 128,326,920 (GRCm39) nonsense probably null
R7378:Mcmbp UTSW 7 128,306,241 (GRCm39) missense probably damaging 1.00
R7476:Mcmbp UTSW 7 128,305,306 (GRCm39) missense probably damaging 1.00
R8730:Mcmbp UTSW 7 128,317,738 (GRCm39) missense probably damaging 1.00
R8777:Mcmbp UTSW 7 128,308,855 (GRCm39) missense probably damaging 1.00
R8917:Mcmbp UTSW 7 128,300,281 (GRCm39) missense probably benign 0.00
R9377:Mcmbp UTSW 7 128,317,803 (GRCm39) missense probably benign 0.31
R9527:Mcmbp UTSW 7 128,305,242 (GRCm39) missense probably damaging 1.00
R9789:Mcmbp UTSW 7 128,311,583 (GRCm39) missense possibly damaging 0.75
R9797:Mcmbp UTSW 7 128,317,696 (GRCm39) missense possibly damaging 0.72
Predicted Primers
Posted On 2021-03-08