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
integral to endoplasmic reticulum membrane; signal transduction; protein transport; endoplasmic reticulum
Homolog in other species RRBP1
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 143,990,161     (Assembly: GRCm38)    
Ref Base A
Codon Change Tca/Cca
Var Base G
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Position 29
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01923
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

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

 Availability Details 
Availability Cryopreserved