Hydin - SNV Details



 Human Rare Diseases 
Primary ciliary dyskinesia

 Gene Information 
Gene Name Hydin
Old Gene Names for Hydin Ac069308.21gm4 , 1700034m11rik , 4930545d19rik
Gene Description HYDIN, axonemal central pair apparatus protein [Source:MGI Symbol;Acc:MGI:2389007]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
ventricular system development; epithelial cell development; cilium assembly; cilium movement; trachea development; cellular_component; multicellular organismal development; molecular_function
Homolog in other species HYDIN
Omim http://omim.org/entry/610812
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
MEDIAN
MEDIAN
MEDIAN
MEDIAN
LOW/MEDIAN
MEDIAN(HIGHER IN TESTIS)
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000059854
Chromosome 8
Coordinate 110,490,718     (Assembly: GRCm38)    
Ref Base A
Codon Change Acc/Gcc
Var Base G
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.60
G:V0.40
Amino Acid Position 1413
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01946
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.56
Polyphen Prediction Possibly damaging
Sift Score 0.13
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved