|Institutional Source||Beutler Lab|
|Gene Name||chloride channel, nucleotide-sensitive, 1A|
|Synonyms||Clci, ICLN, Clcni, 2610100O04Rik, 2610036D06Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1087 (G1)|
|Chromosomal Location||97696634-97720796 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 97705655 bp|
|Amino Acid Change||Histidine to Glutamine at position 69 (H69Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026506 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026506]|
|Predicted Effect||possibly damaging
AA Change: H69Q
PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: H69Q
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous mutants die between E3.5-E7.5. Heterozygous mutants appear normal and healthy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clns1a||
(F):5'- CACAGGTGACCTGAAATAACCTGCC -3'
(R):5'- TGAGCAGCCTGAAGACCTCATCTC -3'
(F):5'- CCTGAAATAACCTGCCATTCAAATTG -3'
(R):5'- Tcaaacaaacaaacaaacaaacaaac -3'