Rrbp1 - SNV Details



 Gene Information 
Gene Name Rrbp1
Old Gene Names for Rrbp1 5730465c04rik , 1700087n07rik
Gene Description ribosome binding protein 1 [Source:MGI Symbol;Acc:MGI:1932395]
Uniprot Name
CCDS Name
Gene GO
membrane; signal transduction; protein transport; poly(A) RNA binding; endoplasmic reticulum; protein binding; integral component of endoplasmic reticulum membrane; osteoblast differentiation
Omim http://omim.org/entry/601418
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
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)
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 ENSMUSG00000027422
Chromosome 2
Coordinate 143,990,187     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 21
Allele Frequency
A:R0.57
G:V0.43
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02678
Median Base Quality 35
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved