Incidental Mutation 'IGL02470:Mcmbp'
ID294685
Institutional Source Australian Phenomics Network (link to record)
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 #IGL02470
Quality Score
Status
Chromosome7
Chromosomal Location128696441-128740495 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128704621 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 424 (I424M)
Ref Sequence ENSEMBL: ENSMUSP00000113961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057557] [ENSMUST00000119081]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057557
AA Change: I424M

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: I424M

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: I424M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: I424M

DomainStartEndE-ValueType
Pfam:MCM_bind 36 588 3.6e-210 PFAM
low complexity region 603 623 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127807
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 M255K probably damaging Het
Adcy10 A G 1: 165,567,726 Y1422C probably damaging Het
Adnp T A 2: 168,183,194 K727I probably damaging Het
Akr1c21 A T 13: 4,577,407 N167Y probably damaging Het
Arl4a T C 12: 40,036,748 probably benign Het
BB014433 A T 8: 15,042,803 F17I unknown Het
Best1 T C 19: 9,992,976 S91G probably benign Het
Ccdc148 A T 2: 59,001,899 S235T probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcc A T 18: 71,955,082 probably benign Het
Dnajc13 G A 9: 104,175,747 T1672I probably benign Het
Elf3 A T 1: 135,255,012 F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 L880P probably damaging Het
Fndc3b A G 3: 27,461,720 Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 probably benign Het
Gnb1 T A 4: 155,527,513 probably benign Het
Mast1 C A 8: 84,921,212 G511V probably damaging Het
Mobp A G 9: 120,168,006 T68A probably benign Het
Myh11 T C 16: 14,218,046 E1006G probably damaging Het
Ncstn A G 1: 172,082,599 probably null Het
Olfr1089 A T 2: 86,733,585 V9E probably damaging Het
Olfr340 A G 2: 36,452,597 D4G probably benign Het
Phip A T 9: 82,890,454 V1075D possibly damaging Het
Serpinb1a C T 13: 32,850,393 S5N probably damaging Het
Slc15a3 A G 19: 10,853,170 N295S probably benign Het
Trmt13 A C 3: 116,590,228 probably null Het
Trp63 A C 16: 25,820,384 probably benign Het
Zfp518a G A 19: 40,914,617 G997R 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
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
R4211:Mcmbp UTSW 7 128716005 missense possibly damaging 0.90
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
Posted On2015-04-16