Kif16b - SNV Details



 Gene Information 
Gene Name Kif16b
Old Gene Names for Kif16b Ai789011 , Aa623607 , 8430434e15rik , C80253 , C80902
Gene Description kinesin family member 16B [Source:MGI Symbol;Acc:MGI:1098240]
MGI phenotype Chimera embryos containing a knock-out allele and derived from tetraploid rescue exhibit lethal growth arrest at the blastocyst stage with abnormal development of the primitive endoderm, epiblast epithelium, and basement membrane.
Uniprot Name
CCDS Name
Gene GO
formation of primary germ layer; early endosome; regulation of receptor recycling; microtubule-based movement; fibroblast growth factor receptor signaling pathway; cell communication; early endosome to late endosome transport; epidermal growth factor receptor signaling pathway; microtubule; microtubule motor activity; phosphatidylinositol-3
4-bisphosphate binding; protein binding; early endosome membrane; Golgi to endosome transport; endosome; plus-end-directed microtubule motor activity; endoderm development; receptor catabolic process; microtubule associated complex; phosphatidylinositol binding; Rab GTPase binding; ATP binding; phosphatidylinositol-3
5-bisphosphate binding; phosphatidylinositol-3
4
5-trisphosphate binding; phosphatidylinositol-3-phosphate binding
Homolog in other species KIF16B
Immgen Expression
MEDIAN
Gnf Expression
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038844
Chromosome 2
Coordinate 142,648,471     (Assembly: GRCm38)    
Ref Base T
Codon Change aAc/aTc
Var Base A
Zygosity Heterozygous
Read Depth 65
Allele Frequency
T:R0.58
A:V0.42
Amino Acid Position 1246
Amino Acid Change N->I (Asparagine -> Isoleucine)
Sample ID IGL01712
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved