|Institutional Source||Beutler Lab|
|Gene Name||kinesin family member 5C|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6688 (G1)|
|Chromosomal Location||49619298-49774778 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 49688737 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 126 (N126D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028102 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028102]|
|Predicted Effect||probably benign
AA Change: N126D
PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: N126D
|Meta Mutation Damage Score||0.0979|
|Coding Region Coverage||
|Validation Efficiency||100% (33/33)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homezygous for disruptions in this gene are viable, fertile, and of normal size. The brain is normal but slightly reduced in size with decreased numbers of motor neurons an somewhat more sensory nerves than normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kif5c||
(F):5'- ACACACTCAACTTGGAGTTTTACAG -3'
(R):5'- GTTCCTACTGCAAGCATCCC -3'
(F):5'- ACTTGGAGTTTTACAGATTAAACGAC -3'
(R):5'- GTTCCTACTGCAAGCATCCCAAATG -3'