|Institutional Source||Beutler Lab|
|Gene Name||kinesin family member 18A|
|Synonyms||B130001M12Rik, N-8 kinesin|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7801 (G1)|
|Chromosomal Location||109280738-109341747 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 109287845 bp|
|Amino Acid Change||Serine to Proline at position 2 (S2P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028527 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028527]|
|Predicted Effect||probably damaging
AA Change: S2P
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S2P
|Meta Mutation Damage Score||0.0913|
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for loss of function alleles exhibit reduced female fertility and male infertility due to primordial germ cell depletion. The sterility phenotype is incompletely penetrant, has variable expressivity, and is modulated by strain background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kif18a||
(F):5'- ATGTGTGTACCATCTTCGGG -3'
(R):5'- GAGTTGAAGTTTCATCAAAGACAGC -3'
(F):5'- ACCATCTTCGGGGGTGTTTTAAG -3'
(R):5'- GTTTCATCAAAGACAGCATCAAATAC -3'