|Institutional Source||Beutler Lab|
|Gene Name||ChaC, cation transport regulator 1|
|Is this an essential gene?||Probably non essential (E-score: 0.211)|
|Stock #||R5398 (G1)|
|Chromosomal Location||119351229-119354381 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 119353244 bp|
|Amino Acid Change||Leucine to Arginine at position 109 (L109R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028780 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028780]|
|Predicted Effect||possibly damaging
AA Change: L109R
PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L109R
|Meta Mutation Damage Score||0.148|
|Coding Region Coverage||
|Validation Efficiency||95% (59/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chac1||
(F):5'- CAGCCAGTCAAACACGTTAG -3'
(R):5'- TGTGGCAATGACCTCTTCAG -3'
(F):5'- CTCCAAAGGGCCTGGATTTGATAC -3'
(R):5'- CAATGACCTCTTCAGGAGCAGG -3'