|Institutional Source||Beutler Lab|
|Gene Name||chloride channel accessory 1|
|Synonyms||gob-5, gob5, Clca3|
|Is this an essential gene?||Probably non essential (E-score: 0.093)|
|Stock #||R2178 (G1)|
|Chromosomal Location||145003817-145032776 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 145006102 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 711 (N711D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029919 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029919]|
|Predicted Effect||probably damaging
AA Change: N711D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N711D
|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 member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit an exacerbated mucin response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clca1||
(F):5'- AGATTCACCAGGTTCTGCC -3'
(R):5'- ACGCCTGTCAGGTAAAGAC -3'
(F):5'- ACCAGGTTCTGCCCTTGGATG -3'
(R):5'- ATTGTCTTCTGATACAACCCGATTTG -3'