|Institutional Source||Beutler Lab|
|Gene Name||chloride intracellular channel 4 (mitochondrial)|
|Synonyms||D0Jmb3, mc3s5, mtCLIC|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7670 (G1)|
|Chromosomal Location||135213969-135272814 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 135217205 bp|
|Amino Acid Change||Tyrosine to Histidine at position 220 (Y220H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041453 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037099]|
|Predicted Effect||probably damaging
AA Change: Y220H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y220H
|Meta Mutation Damage Score||0.7188|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations may display decreased survival, body weight and female fertility, impaired angiogenesis, increased suscpetibility to Listeria infection, increased resistance to LPS treatment, skin erosions and/or delayed wound healing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clic4||
(F):5'- AGCAGTCTGTTAGGAAAGCG -3'
(R):5'- AGTGTGCCGTCCTAGTCTAC -3'
(F):5'- CAGTCTGTTAGGAAAGCGGATTCTC -3'
(R):5'- CAGAAATGGGTGCCTTTACGC -3'