|Institutional Source||Beutler Lab|
|Gene Name||radial spoke head 1 homolog (Chlamydomonas)|
|Synonyms||MCA, meichroacidin, Tsga2|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8824 (G1)|
|Chromosomal Location||31255019-31277356 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 31273376 bp (GRCm38)|
|Amino Acid Change||Valine to Glycine at position 72 (V72G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024832 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024832]|
AA Change: V72G
PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V72G
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit male infertility and azoospermia due to impaired spermatid formation, including deformation of the nucleus/head, acrosome, and flagellar mitochondrial sheath. Homozygous null females are fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rsph1||
(F):5'- TCATTTCCTGGTCGATCAGTG -3'
(R):5'- ACATGGGAAAGCACGACTGC -3'
(F):5'- CCTGGTCGATCAGTGAACTTG -3'
(R):5'- CACATATGAAGGAAGCTATGAGTTTG -3'