Incidental Mutation 'R1157:Mapre1'
ID 101773
Institutional Source Beutler Lab
Gene Symbol Mapre1
Ensembl Gene ENSMUSG00000027479
Gene Name microtubule-associated protein, RP/EB family, member 1
Synonyms BIM1p, D2Ertd459e, 5530600P05Rik, Eb1
MMRRC Submission 039230-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.686) question?
Stock # R1157 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 153583194-153615230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153599937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 120 (D120E)
Ref Sequence ENSEMBL: ENSMUSP00000028981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028981]
AlphaFold Q61166
PDB Structure Solution structure of the CH domain from mouse EB-1 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000028981
AA Change: D120E

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028981
Gene: ENSMUSG00000027479
AA Change: D120E

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C A 3: 95,590,971 (GRCm39) S332I possibly damaging Het
Alpl A G 4: 137,481,331 (GRCm39) V107A probably damaging Het
Baz1a A T 12: 54,976,349 (GRCm39) F442L probably damaging Het
Cachd1 T A 4: 100,832,037 (GRCm39) M733K possibly damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cenpf A T 1: 189,390,650 (GRCm39) C1061S probably benign Het
Crispld1 G A 1: 17,815,587 (GRCm39) V90M possibly damaging Het
Ergic1 T A 17: 26,833,369 (GRCm39) L41Q probably damaging Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gas2l2 G A 11: 83,314,154 (GRCm39) P386L probably benign Het
Gm21726 T C 13: 90,731,724 (GRCm39) noncoding transcript Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Iqsec1 A G 6: 90,646,366 (GRCm39) V771A possibly damaging Het
Klhl29 T C 12: 5,140,650 (GRCm39) N664S possibly damaging Het
Krit1 T C 5: 3,882,176 (GRCm39) Y659H probably damaging Het
Lap3 T A 5: 45,664,490 (GRCm39) D373E probably damaging Het
Lrrc7 A G 3: 157,865,892 (GRCm39) I1283T probably damaging Het
Lrrk1 T C 7: 65,912,031 (GRCm39) Y1843C probably benign Het
Mgp A T 6: 136,850,204 (GRCm39) M44K possibly damaging Het
Mrps25 A T 6: 92,160,947 (GRCm39) M3K probably damaging Het
Myo3a G T 2: 22,434,456 (GRCm39) probably null Het
Nedd9 C T 13: 41,467,979 (GRCm39) probably null Het
Or52e4 A G 7: 104,706,091 (GRCm39) I213V probably benign Het
Or6c8b T G 10: 128,882,027 (GRCm39) T302P probably benign Het
Or7c19 G T 8: 85,957,889 (GRCm39) C255F probably damaging Het
Pate12 G A 9: 36,344,143 (GRCm39) C42Y probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pigs T C 11: 78,219,820 (GRCm39) V65A possibly damaging Het
Pip5k1a G A 3: 94,985,423 (GRCm39) T60I probably benign Het
Rp9 A T 9: 22,370,036 (GRCm39) Y44N probably damaging Het
Tcea1 T A 1: 4,959,670 (GRCm39) probably null Het
Trim33 C T 3: 103,261,146 (GRCm39) T1098I probably damaging Het
Vmn2r114 T A 17: 23,529,314 (GRCm39) I263F possibly damaging Het
Wdr12 A T 1: 60,117,389 (GRCm39) S402R probably damaging Het
Zfp619 A G 7: 39,186,282 (GRCm39) S771G probably damaging Het
Other mutations in Mapre1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Mapre1 APN 2 153,588,234 (GRCm39) missense probably damaging 1.00
R3877:Mapre1 UTSW 2 153,588,201 (GRCm39) missense possibly damaging 0.95
R5184:Mapre1 UTSW 2 153,599,987 (GRCm39) missense possibly damaging 0.49
R7133:Mapre1 UTSW 2 153,606,883 (GRCm39) missense probably benign 0.15
R9463:Mapre1 UTSW 2 153,606,960 (GRCm39) missense probably benign 0.03
Predicted Primers
Posted On 2014-01-15