Kif3b - SNV Details



 Gene Information 
Gene Name Kif3b
Old Gene Names for Kif3b Ai854312 , Aw549267
Gene Description kinesin family member 3B [Source:MGI Symbol;Acc:MGI:107688]
MGI phenotype Mice homozygoous for a targeted null mutation are growth retarded and display neural tube defects, incomplete embryo turning, randomized left-right assymetry, pericardial edema, and die during the midgestational period.
Uniprot Name
CCDS Name
Gene GO
kinesin II complex; microtubule-based movement; microtubule; microtubule motor activity; spindle assembly involved in mitosis; protein binding; cytosol; microtubule associated complex; Rho GTPase binding; ATP binding
Homolog in other species KIF3B
Omim http://omim.org/entry/603754
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027475
Chromosome 2
Coordinate 153,316,948     (Assembly: GRCm38)    
Ref Base T
Codon Change aTt/aAt
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.54
A:V0.46
Amino Acid Position 223
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02302
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000028977:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Kinesin, motor domain Kinesin_motor_dom IPR001752 ENSMUSP00000028977 Pfam 15
340 Description available Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000028977 Superfamily 9
384 Description available Search pathways
Kinesin, motor domain Kinesin_motor_dom IPR001752 ENSMUSP00000028977 Smart 7
348 Description available Search pathways

 Availability Details 
Availability Cryopreserved