Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00795:Mapre1'

12720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapre1

Ensembl Gene

ENSMUSG00000027479

Gene Name

microtubule-associated protein, RP/EB family, member 1

Synonyms

BIM1p, D2Ertd459e, 5530600P05Rik, Eb1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

IGL00795

Quality Score

Status

Chromosome

Chromosomal Location

153583194-153615230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153588234 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q61166

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,153 (GRCm39)	R50G	probably damaging	Het
Ap1m1	A	G	8: 73,007,353 (GRCm39)	N308S	probably damaging	Het
Bub1	A	G	2: 127,663,735 (GRCm39)	V222A	probably benign	Het
Ccdc91	G	T	6: 147,409,305 (GRCm39)	D4Y	probably damaging	Het
Defb21	A	G	2: 152,416,665 (GRCm39)	D47G	probably benign	Het
Dnah17	C	A	11: 117,984,460 (GRCm39)	C1607F	probably benign	Het
Hycc2	C	T	1: 58,591,338 (GRCm39)	E102K	probably damaging	Het
Insc	T	C	7: 114,441,389 (GRCm39)	L401P	probably damaging	Het
Kif18a	A	T	2: 109,123,365 (GRCm39)	N213I	probably damaging	Het
Mettl8	A	T	2: 70,812,434 (GRCm39)	I32N	probably damaging	Het
Mroh9	T	A	1: 162,888,191 (GRCm39)	T295S	probably damaging	Het
Pum3	T	A	19: 27,399,758 (GRCm39)	Y225F	probably damaging	Het
Tas2r131	G	A	6: 132,934,554 (GRCm39)	T85I	possibly damaging	Het
Tbcd	T	G	11: 121,507,758 (GRCm39)	I1193S	probably benign	Het
Tgoln1	C	T	6: 72,593,235 (GRCm39)	A82T	probably benign	Het

Other mutations in Mapre1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1157:Mapre1	UTSW	2	153,599,937 (GRCm39)	missense	probably benign	0.04
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

Posted On

2012-12-06