|Institutional Source||Beutler Lab|
|Gene Name||hydroxyacid oxidase 1, liver|
|Synonyms||GOX, Gox1, Hao-1|
|Is this an essential gene?||Probably non essential (E-score: 0.061)|
|Stock #||R6161 (G1)|
|Chromosomal Location||134497361-134554368 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 134505625 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 253 (D253E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028704 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028704]|
|Predicted Effect||probably benign
AA Change: D253E
PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: D253E
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]
PHENOTYPE: Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hao1||
(F):5'- TCTGCGATATCACATAGCACC -3'
(R):5'- CAGTTCTGTCACATAATTACATTGC -3'
(F):5'- TAGCACCACACATTTTACCATAAGTG -3'
(R):5'- GGATGAAGAAACCAGTACTAATACTC -3'