|Institutional Source||Beutler Lab|
|Gene Name||unc-80, NALCN activator|
|Is this an essential gene?||Probably essential (E-score: 0.915)|
|Stock #||R7041 (G1)|
|Chromosomal Location||66468367-66699148 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 66503593 bp|
|Amino Acid Change||Serine to Proline at position 289 (S289P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109641 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061620] [ENSMUST00000114008] [ENSMUST00000212557]|
|Predicted Effect||probably benign
AA Change: S289P
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|Coding Region Coverage||
|Validation Efficiency||96% (53/55)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Unc80||
(F):5'- GATGGTCTGTAGAGTGAGCC -3'
(R):5'- CCAGGTTTGCCTTACTTGAGTC -3'
(F):5'- TCTGTAGAGTGAGCCATACAAG -3'
(R):5'- TGTTCACCAGTGAGGGAGC -3'