|Institutional Source||Beutler Lab|
|Gene Name||microtubule-associated protein 1 A|
|Synonyms||Mtap1, Mtap-1, 6330416M19Rik, Mtap1a|
|Is this an essential gene?||Possibly non essential (E-score: 0.367)|
|Stock #||R5817 (G1)|
|Chromosomal Location||121289600-121310832 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 121298910 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 143 (H143L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000092223 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094639] [ENSMUST00000110639]|
|AlphaFold||no structure available at present|
AA Change: H143L
PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: H143L
|Meta Mutation Damage Score||0.1812|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map1a||
(F):5'- CTTGTTCTGAGTGCTATAACCGAC -3'
(R):5'- ACAACTTAAGTCCTGCCTCCTG -3'
(F):5'- TGAGTGCTATAACCGACCCTTGG -3'
(R):5'- GTCCCCTTCTTCCAAGACACG -3'