|Institutional Source||Beutler Lab|
|Gene Name||radial spoke head 6 homolog A (Chlamydomonas)|
|Is this an essential gene?||Probably non essential (E-score: 0.103)|
|Stock #||R7193 (G1)|
|Chromosomal Location||19054690-19074447 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 19065647 bp|
|Amino Acid Change||Proline to Glutamine at position 401 (P401Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046526 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035521] [ENSMUST00000076887]|
|Predicted Effect||probably damaging
AA Change: P401Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: P401Q
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rsph6a||
(F):5'- AAAGCTTCCGAATCTTCCTGGC -3'
(R):5'- AGATAGTTGGCCTCGTTGC -3'
(F):5'- AATCTTCCTGGCCCTGAAGCAG -3'
(R):5'- GCGGATAGCTGATGACCG -3'