|Institutional Source||Beutler Lab|
|Gene Name||microtubule-associated protein 1B|
|Synonyms||Mtap1b, MAP5, Mtap-5, Mtap5, LC1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R3911 (G1)|
|Chromosomal Location||99421446-99516540 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 99431072 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 1714 (S1714P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068374 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064762]|
AA Change: S1714P
AA Change: S1714P
|Meta Mutation Damage Score||0.0897|
|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 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'- TAAAGGTGAGGACTCTCGTGG -3'
(R):5'- CTTTAGTCGGCAGTCTCCAGATC -3'
(F):5'- ATCAGATTTCGGAGAGAGCTTC -3'
(R):5'- AGTCTCCAGATCACCCTACTCTGG -3'