MGI Phenotype |
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]
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Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438A13Rik |
A |
G |
3: 36,942,382 |
D1081G |
possibly damaging |
Het |
Aadat |
A |
T |
8: 60,516,072 |
D117V |
probably damaging |
Het |
Abca14 |
T |
C |
7: 120,253,421 |
Y870H |
possibly damaging |
Het |
Ankrd36 |
T |
C |
11: 5,635,092 |
I301T |
probably benign |
Het |
Atp10b |
T |
A |
11: 43,259,845 |
S1457T |
probably benign |
Het |
Ccdc175 |
G |
A |
12: 72,131,142 |
|
probably benign |
Het |
Ccdc93 |
A |
G |
1: 121,461,899 |
K224E |
probably benign |
Het |
Cep131 |
C |
T |
11: 120,065,960 |
A886T |
probably damaging |
Het |
Clip1 |
A |
C |
5: 123,579,379 |
H1282Q |
probably damaging |
Het |
Ctcfl |
T |
G |
2: 173,117,384 |
D183A |
probably benign |
Het |
Cyp17a1 |
C |
T |
19: 46,671,056 |
V112I |
probably benign |
Het |
D3Ertd254e |
T |
C |
3: 36,164,580 |
Y251H |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,130,602 |
I1521T |
probably damaging |
Het |
Gipc2 |
A |
G |
3: 152,137,577 |
I141T |
probably damaging |
Het |
Glo1 |
T |
C |
17: 30,596,419 |
R141G |
possibly damaging |
Het |
Ipmk |
C |
A |
10: 71,372,801 |
A140E |
probably damaging |
Het |
Kynu |
A |
G |
2: 43,671,382 |
D310G |
possibly damaging |
Het |
Myo1f |
T |
A |
17: 33,579,883 |
I174N |
probably damaging |
Het |
Nat10 |
T |
A |
2: 103,757,757 |
N8Y |
probably damaging |
Het |
Nhlrc2 |
A |
G |
19: 56,576,155 |
I304V |
probably benign |
Het |
Pdk4 |
T |
C |
6: 5,491,979 |
H31R |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,664,075 |
V644A |
possibly damaging |
Het |
Slc30a4 |
T |
A |
2: 122,702,388 |
K11N |
possibly damaging |
Het |
Slc6a3 |
T |
C |
13: 73,538,549 |
S12P |
probably benign |
Het |
Spats2 |
C |
T |
15: 99,212,246 |
A508V |
probably benign |
Het |
Tinag |
A |
G |
9: 77,045,538 |
Y55H |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,311,645 |
I172T |
possibly damaging |
Het |
Trim17 |
A |
G |
11: 58,970,597 |
T279A |
probably damaging |
Het |
Vmn1r216 |
C |
A |
13: 23,099,349 |
N67K |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,576,132 |
L709P |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,243,976 |
P754L |
probably damaging |
Het |
Zfp623 |
C |
A |
15: 75,947,679 |
S161R |
probably benign |
Het |
Zmat3 |
G |
A |
3: 32,341,678 |
R227C |
possibly damaging |
Het |
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