Tbc1d2b - SNV Details



 Gene Information 
Gene Name Tbc1d2b
Old Gene Names for Tbc1d2b Ai480956 , 1810061m12rik , Av021536 , Av023399 , Aw491493
Gene Description TBC1 domain family, member 2B [Source:MGI Symbol;Acc:MGI:1914266]
Uniprot Name
CCDS Name
Gene GO
positive regulation of Rab GTPase activity; protein binding; Rab GTPase activator activity; cellular_component; biological_process; regulation of Rab GTPase activity; molecular_function
Homolog in other species TBC1D2B
Immgen Expression
HIGH(LOWER IN BCELL GROUP, T.DPSM.TH, DC.LC.SK, MF.THIO5.II-480HI.PC)
Gnf Expression
LOW
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037410
Chromosome 9
Coordinate 90,222,457     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.31
C:V0.69
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL03198
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.72
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved