|Institutional Source||Beutler Lab|
|Gene Name||centrosomal protein 104|
|Is this an essential gene?||Possibly non essential (E-score: 0.429)|
|Stock #||R1832 (G1)|
|Chromosomal Location||153975194-154008732 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 154002546 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 842 (V842E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040762 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047497]|
|Predicted Effect||probably benign
AA Change: V842E
PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V842E
AA Change: V448E
|Meta Mutation Damage Score||0.1636|
|Coding Region Coverage||
|Validation Efficiency||100% (82/82)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cep104||
(F):5'- GCACATCAAAACTAAGGAGTGC -3'
(R):5'- CCACCATGGGGAACATTCTG -3'
(F):5'- CTAAGGAGTGCAGCCGTG -3'
(R):5'- TGGCTAACAGGCTACAGACTCTG -3'