|Institutional Source||Beutler Lab|
|Gene Name||kinesin family member 13A|
|Synonyms||4930505I07Rik, N-3 kinesin|
|Is this an essential gene?||Possibly essential (E-score: 0.511)|
|Stock #||R2174 (G1)|
|Chromosomal Location||46749087-46929867 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46769176 bp|
|Amino Acid Change||Leucine to Proline at position 387 (L387P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153657 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000223881]|
|Predicted Effect||possibly damaging
AA Change: L1370P
PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L1370P
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: L387P
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|Meta Mutation Damage Score||0.132|
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
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'- CCAGGAAGACACTGCTGTAAAG -3'
(R):5'- CACATTTGGTCACAGTAGCAGTC -3'
(F):5'- TCCCTGCCGCTAGAAGAG -3'
(R):5'- TCACAGTAGCAGTCTTAGAAATATTG -3'