Rpgrip1l - SNV Details



 Human Rare Diseases 
Meckel syndrome
Joubert syndrome with hepatic defect
Joubert syndrome with renal defect

 Gene Information 
Gene Name Rpgrip1l
Old Gene Names for Rpgrip1l 1700047e16rik
Gene Description Rpgrip1-like [Source:MGI Symbol;Acc:MGI:1920563]
MGI phenotype Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.
Uniprot Name
CCDS Name
Gene GO
head development; lateral ventricle development; limb morphogenesis; tight junction; cilium; corpus callosum development; cytoplasm; liver development; embryonic forelimb morphogenesis; regulation of smoothened signaling pathway; microtubule basal body; cilium assembly; cell-cell junction; protein binding; negative regulation of G-protein coupled receptor protein signaling pathway; cerebellum development; kidney development; olfactory bulb development; in utero embryonic development; heme binding; neural tube patterning; pericardium development; telencephalon development; determination of left/right symmetry; thromboxane A2 receptor binding; embryonic hindlimb morphogenesis; cilium axoneme; electron transport chain; camera-type eye development; nose development; electron carrier activity; centrosome; brain development; iron ion binding
Homolog in other species RPGRIP1L
Omim http://omim.org/entry/610937
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000033282
Chromosome 8
Coordinate 91,251,148     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 64
Allele Frequency
A:R0.47
T:V0.53
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02034
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved