|Institutional Source||Beutler Lab|
|Gene Name||HYDIN, axonemal central pair apparatus protein|
|Synonyms||hy-3, hyrh, hy3, 1700034M11Rik, 4930545D19Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.603)|
|Stock #||R5461 (G1)|
|Chromosomal Location||110266977-110610253 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 110519231 bp|
|Amino Acid Change||Lysine to Arginine at position 2192 (K2192R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046204 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043141]|
|Predicted Effect||probably damaging
AA Change: K2192R
PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: K2192R
|Meta Mutation Damage Score||0.0751|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
|MGI Phenotype||Strain: 1856913; 3801608
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hydin||
(F):5'- GTGACTTTTACTGAAACCCCACC -3'
(R):5'- CAGTGCGGTGCCAGTAATAG -3'
(F):5'- ACCTTCTTCCAGCAGCTCATGAG -3'
(R):5'- GGTGCCAGTAATAGAATAGTGCTTAC -3'