|Institutional Source||Beutler Lab|
|Gene Name||chloride intracellular channel 5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4541 (G1)|
|Chromosomal Location||44188572-44280168 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 44242069 bp|
|Amino Acid Change||Threonine to Methionine at position 70 (T70M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024755 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024755]|
|Predicted Effect||probably damaging
AA Change: T70M
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: T70M
|Meta Mutation Damage Score||0.266|
|Coding Region Coverage||
|Validation Efficiency||96% (51/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit head bobbing and circling behavior, inability to swim, and complete deafness by 7-8 months of age caused by dysmorphic stereocilia and progressive hair cell degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clic5||
(F):5'- GGATGAGTTTTCGGTTTCACAC -3'
(R):5'- TGCACCCACTCTGAGATTGG -3'
(F):5'- GGTTTCACACCACAGGCC -3'
(R):5'- GAGATTGGCATTCCATTTTGCTAACC -3'