Kif3a - SNV Details



 Gene Information 
Gene Name Kif3a
Old Gene Names for Kif3a Af180004 , Aw124694 , Af180009 , Kns3 , Kifl
Gene Description kinesin family member 3A [Source:MGI Symbol;Acc:MGI:107689]
MGI phenotype Homozygotes for targeted null mutations exhibit neural tube defects, mesodermal and caudal dysgenesis, random laterality of heart looping, pericardial edema and die by embryonic day 10.5. Tissue-specific inactivation mutants have eye and kidney defects.
Uniprot Name
CCDS Name
Gene GO
photoreceptor connecting cilium; kinesin II complex; anterior/posterior pattern specification; spindle microtubule; microtubule-based movement; dorsal/ventral pattern formation; microtubule; microtubule motor activity; cilium assembly; dorsal/ventral neural tube patterning; protein binding; cilium morphogenesis; kidney development; in utero embryonic development; cytosol; microtubule associated complex; determination of left/right symmetry; primary cilium; ATP binding; heart development; smoothened signaling pathway; centrosome
Homolog in other species KIF3A
Omim http://omim.org/entry/604683
Immgen Expression
LOW/MEDIAN(HIGH IN MF.THIO5.II-480HI.PC)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018395
Chromosome 11
Coordinate 53,570,698     (Assembly: GRCm38)    
Ref Base C
Codon Change Cct/Act
Var Base A
Zygosity Heterozygous
Read Depth 37
Allele Frequency
C:R0.57
A:V0.40
Amino Acid Position 57
Amino Acid Change P->T (Proline -> Threonine)
Sample ID IGL02411
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging
Sift Score 0.05
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000112782:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000112782 Superfamily 9
370 Description available Search pathways
Kinesin, motor domain Kinesin_motor_dom IPR001752 ENSMUSP00000112782 Smart 12
353 Description available Search pathways
Kinesin, motor domain Kinesin_motor_dom IPR001752 ENSMUSP00000112782 Pfam 20
345 Description available Search pathways
Kinesin, motor domain Kinesin_motor_dom IPR001752 ENSMUSP00000112782 Prosite_profiles 11
275 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved