|Institutional Source||Beutler Lab|
|Gene Name||kinesin family member 13A|
|Synonyms||4930505I07Rik, N-3 kinesin|
|Is this an essential gene?||Possibly essential (E-score: 0.542)|
|Stock #||R0834 (G1)|
|Chromosomal Location||46749087-46929867 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 46814236 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 334 (E334G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153614 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000225591]|
|Predicted Effect||possibly damaging
AA Change: E397G
PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: E397G
|Predicted Effect||probably damaging
AA Change: E334G
PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|Meta Mutation Damage Score||0.072|
|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 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'- GGACATCACACAGGACTGCTCAAAG -3'
(R):5'- AGGATGCTGAGGTCTAGCTCGTAAC -3'
(F):5'- tcacaacagtagcaacaaaaaaatg -3'
(R):5'- AGGTCTAGCTCGTAACTGTTTAGC -3'