|Institutional Source||Beutler Lab|
|Gene Name||HYDIN, axonemal central pair apparatus protein|
|Synonyms||hy-3, hyrh, hy3, 1700034M11Rik, 4930545D19Rik|
|Is this an essential gene?||Probably essential (E-score: 0.902)|
|Stock #||R6135 (G1)|
|Chromosomal Location||110266977-110610253 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 110462660 bp|
|Amino Acid Change||Valine to Alanine at position 1232 (V1232A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046204 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043141]|
|Predicted Effect||possibly damaging
AA Change: V1232A
PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V1232A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.044|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
|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'- TTTGATCCCTCCTACAGAAACGAC -3'
(R):5'- GAGCACAGTTAACCCCAAGG -3'
(F):5'- ACCTGAACAACTGGGTGGC -3'
(R):5'- CAGAATAGGTCTACAGGCCTCCTG -3'