|Institutional Source||Beutler Lab|
|Gene Name||microtubule-associated protein 1B|
|Synonyms||Mtap1b, MAP5, Mtap-5, Mtap5, LC1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6860 (G1)|
|Chromosomal Location||99421446-99516540 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 99434767 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 482 (E482G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068374 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064762] [ENSMUST00000223725]|
|Predicted Effect||probably damaging
AA Change: E482G
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: E482G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3190|
|Coding Region Coverage||
|Validation Efficiency||100% (86/86)|
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 MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele die prior to E8.5. While mice homozygous for other knock-out alleles exhibit behavioral, visual system, and nervous system defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map1b||
(F):5'- ACTGGCAACTGGTTTCGTGG -3'
(R):5'- GATGTACGTGCTTAACCCAGTC -3'
(F):5'- AGACTCTCTCGGCTGTCAG -3'
(R):5'- TGTACGTGCTTAACCCAGTCAAAAG -3'