|Institutional Source||Beutler Lab|
|Gene Name||kinesin family member 13A|
|Synonyms||4930505I07Rik, N-3 kinesin|
|Essential gene?||Probably non essential (E-score: 0.249)|
|Stock #||R5054 (G1)|
|Chromosomal Location||46749087-46929867 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46802646 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 561 (Y561H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153614 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000225591]|
|AlphaFold||no structure available at present|
AA Change: Y624H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y624H
AA Change: Y561H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Meta Mutation Damage Score||0.2294|
|Coding Region Coverage||
|Validation Efficiency||94% (67/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased anxiety. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kif13a||
(F):5'- CAAGAGCCAAACTAGATCCGGG -3'
(R):5'- GCAGGACATGTTTCTTCCTGG -3'
(F):5'- TTCACAGGCCTCTCCAGG -3'
(R):5'- TCTTCCTGGAAGAGGCCC -3'