|Institutional Source||Beutler Lab|
|Gene Name||kinesin-associated protein 3|
|Synonyms||Smg GDS, KAP3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0426 (G1)|
|Chromosomal Location||163779583-163917109 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 163865552 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000076830 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027877] [ENSMUST00000077642]|
|Coding Region Coverage||
|Validation Efficiency||96% (86/90)|
FUNCTION: The protein encoded by this gene is the non-motor subunit of kinesin-2 complex, and forms a heterotrimer with two members of the kinesin superfamily of proteins that together form a microtubule plus-end directed translocator that plays an important role in intracellular transport, mitosis, and cell-cell adhesion. This protein contains multiple armadillo repeats involved in protein binding, and may serve as an adaptor to regulate binding of cargo with the motor proteins. Conditional disruption of this gene in mouse neural precursor cells caused a tumor-like phenotype and defective organization of the neuroepithelium thought to be the result of altered N-cadherin subcellular localization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: About 70% of homozygotes for a knock-out mutation die of heart failure shortly after birth due to massive cardiomyocyte apoptosis triggered by cardiovascular overload. Neonatal thymocytes and developing neuronal cells undergo apoptosis while cultured thymocytes are susceptible to apoptotic inducers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kifap3||
(F):5'- GGTGGGGAAATCATGTGCTGTTAATCC -3'
(R):5'- GCACTCACAAAGGCTCCGATTCTG -3'
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- GCTCCTCATCTAACTGCAGT -3'