|Institutional Source||Beutler Lab|
|Gene Name||gap junction protein, alpha 8|
|Synonyms||Cx50, Cnx50, alpha 8 connexin, connexin 50, Lop10, Aey5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5497 (G1)|
|Chromosomal Location||96913566-96926020 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 96920197 bp|
|Amino Acid Change||Serine to Proline at position 50 (S50P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049532 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062944] [ENSMUST00000199597]|
|Predicted Effect||probably damaging
AA Change: S50P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S50P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7408|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gja8||
(F):5'- TTCTCCTCCATGCGAACGTG -3'
(R):5'- GTCACTCCAAGAGCTAGGAAAG -3'
(F):5'- ATGCGAACGTGGTGTACC -3'
(R):5'- GAGATCATCTCAGAGTTGCACTG -3'