Incidental Mutation 'R4211:Mcmbp'
ID319196
Institutional Source Beutler Lab
Gene Symbol Mcmbp
Ensembl Gene ENSMUSG00000048170
Gene Nameminichromosome maintenance complex binding protein
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4211 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location128696441-128740495 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128716005 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 172 (E172G)
Ref Sequence ENSEMBL: ENSMUSP00000113961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057557] [ENSMUST00000119081]
Predicted Effect probably benign
Transcript: ENSMUST00000057557
AA Change: E172G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: E172G

DomainStartEndE-ValueType
Pfam:MCM_bind 37 166 1.6e-44 PFAM
Pfam:Racemase_4 352 451 1.5e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119081
AA Change: E172G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: E172G

DomainStartEndE-ValueType
Pfam:MCM_bind 36 588 3.6e-210 PFAM
low complexity region 603 623 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146352
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T G 5: 90,564,237 V63G probably damaging Het
Adgb T C 10: 10,407,465 I166V probably benign Het
Anapc5 T C 5: 122,817,905 E154G probably benign Het
Anpep A T 7: 79,840,996 Y257* probably null Het
Atp8b1 A T 18: 64,553,047 D688E probably damaging Het
Bub1b C A 2: 118,630,978 H670Q possibly damaging Het
Casp3 G T 8: 46,635,388 D107Y probably damaging Het
Clcc1 A T 3: 108,663,591 Y105F possibly damaging Het
Cr2 A C 1: 195,156,328 L671R probably damaging Het
Cttnbp2 A G 6: 18,427,543 V713A probably damaging Het
Cyp4a31 T C 4: 115,565,013 F65L probably benign Het
Dpysl2 T C 14: 66,815,477 S308G probably damaging Het
Dusp22 A T 13: 30,708,743 I168F probably benign Het
Ecel1 A G 1: 87,152,150 S414P probably damaging Het
Fat2 A G 11: 55,283,984 F1968L probably damaging Het
Fsip2 C T 2: 82,975,149 T604I probably damaging Het
Gatsl2 T C 5: 134,125,944 probably null Het
H2-DMb1 T A 17: 34,155,573 F66I possibly damaging Het
Hgf T C 5: 16,614,993 V574A probably damaging Het
Hoxa7 A T 6: 52,216,625 Y137* probably null Het
Ikbke T A 1: 131,263,348 I519F probably damaging Het
Inpp5j T G 11: 3,501,107 H514P probably damaging Het
Kmt2d A G 15: 98,840,189 probably benign Het
Larp7 T A 3: 127,546,954 R112S probably benign Het
Lepr C T 4: 101,733,414 A63V probably benign Het
Lmx1a G T 1: 167,832,859 V238L probably damaging Het
Man1c1 G C 4: 134,703,438 P11R probably damaging Het
Mcpt8 G A 14: 56,083,918 H30Y probably damaging Het
Nek8 C A 11: 78,170,483 V379L probably benign Het
Numa1 T G 7: 102,009,738 L356R probably damaging Het
Pard6b C T 2: 168,099,023 A310V probably benign Het
Pcgf5 C A 19: 36,437,340 N26K possibly damaging Het
Phtf1 G A 3: 104,003,603 probably null Het
Plch1 C A 3: 63,711,219 D675Y probably damaging Het
Plk2 A G 13: 110,396,337 H144R probably damaging Het
Rax T A 18: 65,935,081 N318Y unknown Het
Slc9a5 A G 8: 105,358,471 N535D possibly damaging Het
Smarcd2 T A 11: 106,266,905 K138* probably null Het
Taar7e A T 10: 24,038,034 I141F probably damaging Het
Taar7f T A 10: 24,050,023 W172R probably damaging Het
Tango6 A G 8: 106,689,224 I226V probably benign Het
Tcn2 T C 11: 3,922,114 K338E possibly damaging Het
Tdp1 C A 12: 99,898,329 A243E probably damaging Het
Tfpt A G 7: 3,620,387 Y240H probably damaging Het
Tmod4 A G 3: 95,127,829 D215G probably benign Het
Top3b A G 16: 16,882,532 probably null Het
Urgcp C A 11: 5,715,878 G820V probably damaging Het
Zfand2b A T 1: 75,169,810 M110L probably benign Het
Zfyve1 A T 12: 83,575,135 V162E probably damaging Het
Other mutations in Mcmbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Mcmbp APN 7 128714485 nonsense probably null
IGL01511:Mcmbp APN 7 128707164 missense probably damaging 1.00
IGL02351:Mcmbp APN 7 128709781 critical splice donor site probably null
IGL02358:Mcmbp APN 7 128709781 critical splice donor site probably null
IGL02470:Mcmbp APN 7 128704621 missense possibly damaging 0.94
R1390:Mcmbp UTSW 7 128724141 missense probably damaging 1.00
R1450:Mcmbp UTSW 7 128715931 splice site probably benign
R1844:Mcmbp UTSW 7 128723974 missense probably damaging 0.97
R1998:Mcmbp UTSW 7 128709163 missense probably damaging 1.00
R2926:Mcmbp UTSW 7 128698014 unclassified probably benign
R2943:Mcmbp UTSW 7 128723973 missense probably damaging 1.00
R4771:Mcmbp UTSW 7 128698400 splice site probably null
R4947:Mcmbp UTSW 7 128712696 missense probably damaging 1.00
R5428:Mcmbp UTSW 7 128704524 missense probably benign 0.28
R5668:Mcmbp UTSW 7 128712754 missense probably benign 0.00
R6401:Mcmbp UTSW 7 128707059 missense possibly damaging 0.91
R6520:Mcmbp UTSW 7 128712727 missense possibly damaging 0.58
R6885:Mcmbp UTSW 7 128725109 splice site probably null
R6936:Mcmbp UTSW 7 128725196 nonsense probably null
R7378:Mcmbp UTSW 7 128704517 missense probably damaging 1.00
R7476:Mcmbp UTSW 7 128703582 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTATGAAACGCCCAGTTGCTG -3'
(R):5'- TGTCAGATTGGTGCTATTTATACCCC -3'

Sequencing Primer
(F):5'- GCGTTAGACCAGAGGCTCATATACTC -3'
(R):5'- TCAATGCGAACCAAGCTC -3'
Posted On2015-06-10