|Institutional Source||Beutler Lab|
|Gene Name||RIKEN cDNA D430042O09 gene|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6345 (G1)|
|Chromosomal Location||125707888-125874793 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 125752987 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 26 (D26E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065744 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223] [ENSMUST00000148701]|
AA Change: D26E
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: D26E
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit variable obstructive hydrocephaly and enlarged lateral ventricles resulting from a blockage of cerebrospinal fluid flow in the cerebral aqueduct but show no gross defects in ventricular ependymal cilium structure or motility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in D430042O09Rik||
(F):5'- TGTGAGCTTGAGACCCACTG -3'
(R):5'- AGTGCTGGCAATAACCTCAG -3'
(F):5'- ACTGGGCTTCCACACAGTC -3'
(R):5'- AATAACCTCAGTCTCTGCATGGGG -3'