Abi3bp - SNV Details



 Gene Information 
Gene Name Abi3bp
Old Gene Names for Abi3bp Ai506287 , Bg172926 , D930038m13rik , 5033411b22rik
Gene Description ABI gene family, member 3 (NESH) binding protein [Source:MGI Symbol;Acc:MGI:2444583]
Uniprot Name
CCDS Name
Gene GO
extracellular matrix; positive regulation of cell-substrate adhesion; glycosaminoglycan binding; protein binding; heparin binding; extracellular matrix organization; interstitial matrix; extracellular space; collagen binding
Homolog in other species ABI3BP
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035258
Chromosome 16
Coordinate 56,592,636     (Assembly: GRCm38)    
Ref Base T
Codon Change Tct/Cct
Var Base C
Zygosity Heterozygous
Read Depth 28
Allele Frequency
T:R0.39
C:V0.61
Amino Acid Position 314
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02022
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability