|Institutional Source||Beutler Lab|
|Gene Name||xanthine dehydrogenase|
|Synonyms||xanthine oxidase, XO, Xor, Xox1, Xox-1|
|Is this an essential gene?||Possibly non essential (E-score: 0.280)|
|Stock #||R6932 (G1)|
|Chromosomal Location||73883908-73950182 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 73922562 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 299 (I299F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024866]|
|Predicted Effect||probably damaging
AA Change: I299F
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: I299F
|Meta Mutation Damage Score||0.7346|
|Coding Region Coverage||
|Validation Efficiency||98% (80/82)|
FUNCTION: This gene encodes a member of the xanthine dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein exists as two distinct enzymatic forms, either as xanthine dehydrogenase, or as xanthine oxidase, and functions in purine degradation. Additional studies also suggest a role in adipogenesis, and a function as a structural protein in milk fat droplets in the lactating mammary gland. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Xdh||
(F):5'- GGCCATCTTCATGAAACTTCCC -3'
(R):5'- GGTATAGACATCGTCCCAGC -3'
(F):5'- ACGAACCTGGGTTTGCATC -3'
(R):5'- GGTATAGACATCGTCCCAGCTCATG -3'