Incidental Mutation 'IGL00795:Mapre1'
ID12720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapre1
Ensembl Gene ENSMUSG00000027479
Gene Namemicrotubule-associated protein, RP/EB family, member 1
SynonymsEb1, 5530600P05Rik, BIM1p, D2Ertd459e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.482) question?
Stock #IGL00795
Quality Score
Status
Chromosome2
Chromosomal Location153741274-153773310 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153746314 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 19 (D19G)
Ref Sequence ENSEMBL: ENSMUSP00000028981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028981]
PDB Structure
Solution structure of the CH domain from mouse EB-1 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000028981
AA Change: D19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028981
Gene: ENSMUSG00000027479
AA Change: D19G

DomainStartEndE-ValueType
Pfam:CH 14 114 5.2e-11 PFAM
Pfam:EB1 210 248 1.2e-20 PFAM
low complexity region 256 267 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123795
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Ap1m1 A G 8: 72,253,509 N308S probably damaging Het
Bub1 A G 2: 127,821,815 V222A probably benign Het
Ccdc91 G T 6: 147,507,807 D4Y probably damaging Het
Defb21 A G 2: 152,574,745 D47G probably benign Het
Dnah17 C A 11: 118,093,634 C1607F probably benign Het
Fam126b C T 1: 58,552,179 E102K probably damaging Het
Insc T C 7: 114,842,154 L401P probably damaging Het
Kif18a A T 2: 109,293,020 N213I probably damaging Het
Mettl8 A T 2: 70,982,090 I32N probably damaging Het
Mroh9 T A 1: 163,060,622 T295S probably damaging Het
Pum3 T A 19: 27,422,358 Y225F probably damaging Het
Tas2r131 G A 6: 132,957,591 T85I possibly damaging Het
Tbcd T G 11: 121,616,932 I1193S probably benign Het
Tgoln1 C T 6: 72,616,252 A82T probably benign Het
Other mutations in Mapre1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1157:Mapre1 UTSW 2 153758017 missense probably benign 0.04
R3877:Mapre1 UTSW 2 153746281 missense possibly damaging 0.95
R5184:Mapre1 UTSW 2 153758067 missense possibly damaging 0.49
R7133:Mapre1 UTSW 2 153764963 missense probably benign 0.15
Posted On2012-12-06