|Institutional Source||Beutler Lab|
|Gene Name||antioxidant 1 copper chaperone|
|Is this an essential gene?||Probably non essential (E-score: 0.117)|
|Stock #||R3176 (G1)|
|Chromosomal Location||55446641-55461239 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 55450553 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 52 (L52P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104485 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108857]|
AA Change: L52P
PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: L52P
|Meta Mutation Damage Score||0.9204|
|Coding Region Coverage||
|Validation Efficiency||100% (28/28)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation have impaired intracellular copper trafficking and exhibit high postnatal mortality, retarded growth, hypoactivity, loose skin, hypopigmentation, and seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atox1||
(F):5'- GCTCAAGCCTTTCAGATGAGG -3'
(R):5'- CATAGAGAAGAGCCTGCAGC -3'
(F):5'- AAGCCTTTCAGATGAGGGACCC -3'
(R):5'- AAAGAGCTCGCCGGGTGTG -3'