|Institutional Source||Beutler Lab|
|Gene Name||sperm associated antigen 17|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0537 (G1)|
|Chromosomal Location||99885406-100143322 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100125302 bp|
|Amino Acid Change||Valine to Alanine at position 2276 (V2276A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000134066 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164539]|
|Predicted Effect||probably damaging
AA Change: V2276A
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V2276A
|Meta Mutation Damage Score||0.1316|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygous null mice exhibit immotile respiratory cilia with axoneme structural defects, impaired mucociliary clearance, respiratory distress, pulmonary edema, disrupted alveolar epithelium, enlarged brain ventricles consistent with evolving hydrocephalus, failure to suckle, and neonatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spag17||
(F):5'- AGCCTGGTGGTGATGACCTCTC -3'
(R):5'- AGCGGTTGGCTACATGGCACTC -3'
(F):5'- GTGATGACCTCTCATAGAGAGACC -3'
(R):5'- GGCACTCACTACTTACAGGTCTAATG -3'