Incidental Mutation 'R9035:Xdh'
ID 687346
Institutional Source Beutler Lab
Gene Symbol Xdh
Ensembl Gene ENSMUSG00000024066
Gene Name xanthine dehydrogenase
Synonyms Xox-1, XO, Xor, Xox1, xanthine oxidase
MMRRC Submission 068864-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R9035 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 74190890-74257191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74217222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 682 (H682R)
Ref Sequence ENSEMBL: ENSMUSP00000024866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024866]
AlphaFold Q00519
Predicted Effect probably benign
Transcript: ENSMUST00000024866
AA Change: H682R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: H682R

DomainStartEndE-ValueType
Pfam:Fer2 11 81 5e-12 PFAM
Pfam:Fer2_2 90 163 4.1e-31 PFAM
low complexity region 169 182 N/A INTRINSIC
Pfam:FAD_binding_5 234 414 4.9e-47 PFAM
CO_deh_flav_C 421 525 1.16e-24 SMART
Ald_Xan_dh_C 590 696 1.23e-46 SMART
Pfam:Ald_Xan_dh_C2 704 1239 1e-200 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (90/91)
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]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,021,461 (GRCm39) L1083P probably damaging Het
Anxa7 G T 14: 20,510,460 (GRCm39) T356K probably damaging Het
Atg16l1 T C 1: 87,693,167 (GRCm39) probably null Het
Bptf A G 11: 106,963,842 (GRCm39) V1784A probably damaging Het
Cabs1 T C 5: 88,128,309 (GRCm39) V320A probably damaging Het
Camta1 A C 4: 151,229,159 (GRCm39) S558A probably benign Het
Ccdc180 A T 4: 45,906,922 (GRCm39) K466* probably null Het
Cdhr1 G A 14: 36,810,924 (GRCm39) P279L possibly damaging Het
Cenpe A G 3: 134,976,572 (GRCm39) N2393S probably benign Het
Cep104 T C 4: 154,063,462 (GRCm39) V8A probably benign Het
Chaf1a T A 17: 56,371,110 (GRCm39) V665E probably damaging Het
Clasp1 T A 1: 118,431,583 (GRCm39) D404E probably damaging Het
Clnk G A 5: 38,907,751 (GRCm39) T169I possibly damaging Het
Cnst G A 1: 179,437,587 (GRCm39) A384T possibly damaging Het
Ctnnd2 T A 15: 30,332,162 (GRCm39) M15K possibly damaging Het
Dlgap1 T A 17: 70,823,855 (GRCm39) L280Q possibly damaging Het
Dll1 T C 17: 15,588,959 (GRCm39) K572R probably benign Het
Dnai4 T A 4: 102,905,499 (GRCm39) K761* probably null Het
Dolk C A 2: 30,174,542 (GRCm39) W501L probably damaging Het
Ednrb G A 14: 104,080,665 (GRCm39) P83L probably benign Het
Edrf1 T C 7: 133,245,431 (GRCm39) W190R probably damaging Het
Epha5 T A 5: 84,255,886 (GRCm39) D468V probably damaging Het
Fat2 G T 11: 55,194,547 (GRCm39) P1164Q probably damaging Het
Fbln5 A T 12: 101,717,041 (GRCm39) V436E probably damaging Het
Fbxw10 G T 11: 62,758,449 (GRCm39) R558L possibly damaging Het
Fhod3 C A 18: 25,161,140 (GRCm39) S557R probably benign Het
Gmip A T 8: 70,273,298 (GRCm39) H863L probably damaging Het
Grm3 A T 5: 9,620,464 (GRCm39) I260N probably damaging Het
Gtpbp8 G A 16: 44,566,511 (GRCm39) P64S probably benign Het
Hand1 A C 11: 57,722,548 (GRCm39) M22R probably benign Het
Ift70b T C 2: 75,767,596 (GRCm39) T386A probably benign Het
Igsf21 A G 4: 139,884,782 (GRCm39) V58A probably damaging Het
Ikzf2 G A 1: 69,578,637 (GRCm39) R291* probably null Het
Itih4 C G 14: 30,618,650 (GRCm39) P687R probably benign Het
Kifc3 C T 8: 95,853,195 (GRCm39) D54N possibly damaging Het
Kmt2c G T 5: 25,524,010 (GRCm39) Q1739K probably damaging Het
Krtap4-1 G T 11: 99,518,708 (GRCm39) R101S unknown Het
L3mbtl2 T A 15: 81,560,744 (GRCm39) probably benign Het
Lcor A T 19: 41,573,399 (GRCm39) H718L probably benign Het
Lrrc73 T C 17: 46,565,293 (GRCm39) I8T probably damaging Het
Med19 C A 2: 84,516,532 (GRCm39) probably benign Het
Mgarp C T 3: 51,296,264 (GRCm39) S246N unknown Het
Mkrn2 T C 6: 115,594,681 (GRCm39) S414P possibly damaging Het
Mucl2 C T 15: 103,926,279 (GRCm39) R137H unknown Het
Myo1g A G 11: 6,464,916 (GRCm39) Y453H probably damaging Het
Nacc2 C A 2: 25,951,605 (GRCm39) R410L probably damaging Het
Ndufs3 C T 2: 90,725,217 (GRCm39) R210H probably damaging Het
Nlgn1 G T 3: 25,488,595 (GRCm39) T580K probably damaging Het
Nobox A T 6: 43,284,522 (GRCm39) D41E probably damaging Het
Nsd1 A G 13: 55,393,667 (GRCm39) R526G possibly damaging Het
Nt5e A G 9: 88,246,873 (GRCm39) M370V probably benign Het
Olfm5 T A 7: 103,803,099 (GRCm39) N455Y probably damaging Het
Or2g7 T C 17: 38,378,179 (GRCm39) V39A probably benign Het
Or4c101 T A 2: 88,389,863 (GRCm39) F6I probably damaging Het
Or52e19 T C 7: 102,959,186 (GRCm39) I86T probably damaging Het
Or8g50 G A 9: 39,648,886 (GRCm39) M258I probably benign Het
Or8k33 T A 2: 86,384,021 (GRCm39) Y149F probably damaging Het
Pcdhac2 T C 18: 37,277,758 (GRCm39) V246A probably damaging Het
Pclo A T 5: 14,763,192 (GRCm39) Q603H Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,573,176 (GRCm39) Q1910L probably damaging Het
Plg C A 17: 12,609,107 (GRCm39) Y137* probably null Het
Prkra T C 2: 76,460,856 (GRCm39) I281V probably benign Het
Prrc2c A C 1: 162,503,295 (GRCm39) L2722R possibly damaging Het
Prss12 A G 3: 123,279,149 (GRCm39) T409A probably damaging Het
Rnaseh1 A G 12: 28,708,290 (GRCm39) Q256R probably benign Het
Rpp14 T A 14: 8,083,772 (GRCm38) Y17N possibly damaging Het
Ryr1 A T 7: 28,790,422 (GRCm39) H1468Q probably damaging Het
Scp2 C T 4: 107,912,717 (GRCm39) V463M probably damaging Het
Sf3b4 C A 3: 96,080,381 (GRCm39) H43Q probably damaging Het
Sgpp1 T C 12: 75,782,238 (GRCm39) S34G probably benign Het
Shisa9 T A 16: 11,802,902 (GRCm39) I153N probably damaging Het
Sin3b C A 8: 73,450,092 (GRCm39) P3H unknown Het
Slc15a2 C A 16: 36,602,719 (GRCm39) K47N possibly damaging Het
Slc30a6 T A 17: 74,726,586 (GRCm39) F297L probably benign Het
Slc45a3 TGGGG TGGGGG 1: 131,909,187 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,476 (GRCm39) D88V probably benign Het
Tgs1 C A 4: 3,593,491 (GRCm39) Q460K probably benign Het
Tlr11 A T 14: 50,598,434 (GRCm39) D140V probably benign Het
Tmem215 T A 4: 40,473,945 (GRCm39) N7K probably damaging Het
Tmem245 T C 4: 56,922,384 (GRCm39) probably benign Het
Tnfsf10 G A 3: 27,389,379 (GRCm39) D147N probably benign Het
Tpm1 A G 9: 66,955,138 (GRCm39) L57P possibly damaging Het
Trappc10 T C 10: 78,043,723 (GRCm39) probably benign Het
Trmt9b C T 8: 36,978,954 (GRCm39) R186* probably null Het
Ttn T C 2: 76,593,061 (GRCm39) T20730A possibly damaging Het
Uap1 A T 1: 169,977,013 (GRCm39) Y395* probably null Het
Usp2 A T 9: 43,987,176 (GRCm39) D158V probably damaging Het
Usp30 A G 5: 114,243,877 (GRCm39) M149V probably benign Het
Vmn2r2 T C 3: 64,024,172 (GRCm39) N803S probably damaging Het
Vmn2r85 A G 10: 130,261,479 (GRCm39) V286A probably benign Het
Zbed3 T A 13: 95,472,999 (GRCm39) L141Q probably damaging Het
Zfp623 T C 15: 75,820,162 (GRCm39) C373R possibly damaging Het
Other mutations in Xdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Xdh APN 17 74,230,101 (GRCm39) missense possibly damaging 0.58
IGL00556:Xdh APN 17 74,191,430 (GRCm39) makesense probably null
IGL01524:Xdh APN 17 74,230,132 (GRCm39) critical splice acceptor site probably null
IGL01604:Xdh APN 17 74,216,332 (GRCm39) missense probably benign 0.02
IGL01625:Xdh APN 17 74,223,781 (GRCm39) critical splice donor site probably null
IGL01778:Xdh APN 17 74,207,275 (GRCm39) missense probably benign 0.00
IGL01804:Xdh APN 17 74,199,754 (GRCm39) missense probably damaging 1.00
IGL01825:Xdh APN 17 74,198,240 (GRCm39) missense probably damaging 1.00
IGL01929:Xdh APN 17 74,241,850 (GRCm39) missense probably damaging 1.00
IGL02068:Xdh APN 17 74,220,945 (GRCm39) missense probably damaging 1.00
IGL02079:Xdh APN 17 74,198,272 (GRCm39) missense probably damaging 1.00
IGL02210:Xdh APN 17 74,250,890 (GRCm39) missense probably benign 0.00
IGL02261:Xdh APN 17 74,220,960 (GRCm39) missense possibly damaging 0.81
IGL02365:Xdh APN 17 74,250,885 (GRCm39) missense probably benign 0.14
IGL02424:Xdh APN 17 74,233,565 (GRCm39) missense probably benign 0.00
IGL02491:Xdh APN 17 74,193,459 (GRCm39) missense probably damaging 0.99
IGL02525:Xdh APN 17 74,231,990 (GRCm39) missense possibly damaging 0.91
IGL02578:Xdh APN 17 74,213,241 (GRCm39) missense probably damaging 1.00
IGL02793:Xdh APN 17 74,207,576 (GRCm39) missense probably damaging 1.00
IGL02939:Xdh APN 17 74,250,840 (GRCm39) critical splice donor site probably null
IGL03327:Xdh APN 17 74,223,787 (GRCm39) missense probably benign
IGL03345:Xdh APN 17 74,213,027 (GRCm39) missense probably damaging 0.98
IGL03353:Xdh APN 17 74,202,781 (GRCm39) missense possibly damaging 0.65
inky UTSW 17 74,228,346 (GRCm39) missense probably damaging 1.00
nucleus UTSW 17 74,206,007 (GRCm39) nonsense probably null
squidgame UTSW 17 74,246,831 (GRCm39) missense probably benign
R0018:Xdh UTSW 17 74,232,020 (GRCm39) missense probably benign 0.00
R0018:Xdh UTSW 17 74,232,020 (GRCm39) missense probably benign 0.00
R0033:Xdh UTSW 17 74,214,627 (GRCm39) missense probably benign 0.06
R0079:Xdh UTSW 17 74,198,213 (GRCm39) missense probably damaging 1.00
R0086:Xdh UTSW 17 74,191,433 (GRCm39) missense probably benign
R0319:Xdh UTSW 17 74,213,096 (GRCm39) splice site probably benign
R0336:Xdh UTSW 17 74,229,458 (GRCm39) missense possibly damaging 0.91
R0389:Xdh UTSW 17 74,205,357 (GRCm39) missense probably damaging 1.00
R0684:Xdh UTSW 17 74,250,886 (GRCm39) missense probably damaging 0.97
R0930:Xdh UTSW 17 74,230,077 (GRCm39) missense probably benign 0.00
R1073:Xdh UTSW 17 74,246,831 (GRCm39) missense probably benign
R1114:Xdh UTSW 17 74,248,144 (GRCm39) splice site probably benign
R1201:Xdh UTSW 17 74,225,413 (GRCm39) missense probably benign 0.05
R1230:Xdh UTSW 17 74,198,251 (GRCm39) missense probably damaging 1.00
R1351:Xdh UTSW 17 74,230,073 (GRCm39) missense probably benign 0.02
R1470:Xdh UTSW 17 74,198,107 (GRCm39) missense probably damaging 1.00
R1470:Xdh UTSW 17 74,198,107 (GRCm39) missense probably damaging 1.00
R1485:Xdh UTSW 17 74,221,014 (GRCm39) nonsense probably null
R1548:Xdh UTSW 17 74,220,896 (GRCm39) missense probably damaging 0.98
R1637:Xdh UTSW 17 74,207,573 (GRCm39) missense probably benign
R1641:Xdh UTSW 17 74,233,547 (GRCm39) missense probably benign
R1758:Xdh UTSW 17 74,217,204 (GRCm39) missense probably damaging 1.00
R1951:Xdh UTSW 17 74,214,653 (GRCm39) missense probably damaging 1.00
R1969:Xdh UTSW 17 74,199,746 (GRCm39) missense possibly damaging 0.55
R2024:Xdh UTSW 17 74,228,300 (GRCm39) missense possibly damaging 0.92
R2080:Xdh UTSW 17 74,216,320 (GRCm39) missense probably damaging 1.00
R2157:Xdh UTSW 17 74,229,532 (GRCm39) missense probably damaging 1.00
R2300:Xdh UTSW 17 74,198,260 (GRCm39) missense probably damaging 1.00
R3783:Xdh UTSW 17 74,200,590 (GRCm39) splice site probably benign
R3796:Xdh UTSW 17 74,214,653 (GRCm39) missense probably damaging 1.00
R3797:Xdh UTSW 17 74,214,653 (GRCm39) missense probably damaging 1.00
R3798:Xdh UTSW 17 74,214,653 (GRCm39) missense probably damaging 1.00
R3799:Xdh UTSW 17 74,214,653 (GRCm39) missense probably damaging 1.00
R3819:Xdh UTSW 17 74,213,720 (GRCm39) missense probably benign 0.35
R4085:Xdh UTSW 17 74,223,874 (GRCm39) missense probably benign 0.35
R4240:Xdh UTSW 17 74,202,790 (GRCm39) missense possibly damaging 0.72
R4356:Xdh UTSW 17 74,222,685 (GRCm39) missense probably benign 0.01
R4522:Xdh UTSW 17 74,205,339 (GRCm39) missense probably damaging 1.00
R4523:Xdh UTSW 17 74,205,339 (GRCm39) missense probably damaging 1.00
R4524:Xdh UTSW 17 74,205,339 (GRCm39) missense probably damaging 1.00
R4600:Xdh UTSW 17 74,217,195 (GRCm39) missense probably benign 0.19
R4617:Xdh UTSW 17 74,225,389 (GRCm39) missense probably damaging 0.99
R4756:Xdh UTSW 17 74,193,381 (GRCm39) missense probably benign 0.24
R4761:Xdh UTSW 17 74,217,262 (GRCm39) missense possibly damaging 0.91
R4815:Xdh UTSW 17 74,213,210 (GRCm39) missense probably damaging 1.00
R4850:Xdh UTSW 17 74,205,330 (GRCm39) missense probably damaging 1.00
R4896:Xdh UTSW 17 74,217,238 (GRCm39) missense probably damaging 0.96
R4897:Xdh UTSW 17 74,207,703 (GRCm39) missense probably benign
R4923:Xdh UTSW 17 74,231,931 (GRCm39) missense possibly damaging 0.72
R4977:Xdh UTSW 17 74,205,965 (GRCm39) missense probably benign 0.05
R5030:Xdh UTSW 17 74,198,288 (GRCm39) missense probably damaging 1.00
R5185:Xdh UTSW 17 74,232,006 (GRCm39) missense probably damaging 1.00
R5347:Xdh UTSW 17 74,232,027 (GRCm39) missense probably benign
R5556:Xdh UTSW 17 74,204,759 (GRCm39) missense probably benign 0.21
R5566:Xdh UTSW 17 74,200,617 (GRCm39) missense probably damaging 1.00
R5568:Xdh UTSW 17 74,250,880 (GRCm39) missense possibly damaging 0.90
R5635:Xdh UTSW 17 74,220,870 (GRCm39) missense possibly damaging 0.92
R5662:Xdh UTSW 17 74,248,110 (GRCm39) missense probably damaging 0.99
R5955:Xdh UTSW 17 74,205,315 (GRCm39) missense probably damaging 1.00
R6058:Xdh UTSW 17 74,213,264 (GRCm39) missense probably damaging 1.00
R6061:Xdh UTSW 17 74,228,342 (GRCm39) missense probably damaging 1.00
R6412:Xdh UTSW 17 74,242,902 (GRCm39) missense probably benign 0.09
R6526:Xdh UTSW 17 74,207,546 (GRCm39) missense probably damaging 0.97
R6558:Xdh UTSW 17 74,200,708 (GRCm39) missense possibly damaging 0.95
R6843:Xdh UTSW 17 74,230,125 (GRCm39) missense probably damaging 1.00
R6932:Xdh UTSW 17 74,229,557 (GRCm39) missense probably damaging 0.99
R7028:Xdh UTSW 17 74,250,868 (GRCm39) missense probably damaging 0.99
R7418:Xdh UTSW 17 74,220,960 (GRCm39) missense possibly damaging 0.81
R7503:Xdh UTSW 17 74,233,205 (GRCm39) missense probably damaging 1.00
R7653:Xdh UTSW 17 74,204,040 (GRCm39) missense probably benign 0.10
R7763:Xdh UTSW 17 74,241,829 (GRCm39) missense possibly damaging 0.69
R7768:Xdh UTSW 17 74,246,831 (GRCm39) missense probably benign
R7904:Xdh UTSW 17 74,229,467 (GRCm39) missense probably benign 0.09
R8010:Xdh UTSW 17 74,216,312 (GRCm39) nonsense probably null
R8067:Xdh UTSW 17 74,207,652 (GRCm39) missense probably benign 0.01
R8238:Xdh UTSW 17 74,193,412 (GRCm39) missense probably benign
R8253:Xdh UTSW 17 74,225,377 (GRCm39) missense possibly damaging 0.94
R8346:Xdh UTSW 17 74,220,938 (GRCm39) missense probably damaging 1.00
R8350:Xdh UTSW 17 74,241,837 (GRCm39) missense probably damaging 1.00
R8381:Xdh UTSW 17 74,219,456 (GRCm39) missense probably benign
R8427:Xdh UTSW 17 74,242,926 (GRCm39) missense probably damaging 1.00
R8465:Xdh UTSW 17 74,206,007 (GRCm39) nonsense probably null
R8478:Xdh UTSW 17 74,213,053 (GRCm39) missense probably benign 0.00
R8680:Xdh UTSW 17 74,229,500 (GRCm39) missense probably benign
R8802:Xdh UTSW 17 74,225,405 (GRCm39) missense probably benign 0.00
R8984:Xdh UTSW 17 74,228,346 (GRCm39) missense probably damaging 1.00
R8985:Xdh UTSW 17 74,228,346 (GRCm39) missense probably damaging 1.00
R8995:Xdh UTSW 17 74,205,369 (GRCm39) missense probably damaging 1.00
R9149:Xdh UTSW 17 74,222,688 (GRCm39) missense probably benign
R9181:Xdh UTSW 17 74,232,006 (GRCm39) missense probably damaging 1.00
R9357:Xdh UTSW 17 74,233,541 (GRCm39) critical splice donor site probably null
R9357:Xdh UTSW 17 74,214,711 (GRCm39) missense probably damaging 0.97
R9609:Xdh UTSW 17 74,231,990 (GRCm39) missense possibly damaging 0.91
R9803:Xdh UTSW 17 74,229,455 (GRCm39) missense probably benign
X0019:Xdh UTSW 17 74,225,449 (GRCm39) missense probably damaging 1.00
Z1088:Xdh UTSW 17 74,193,423 (GRCm39) missense probably benign
Z1176:Xdh UTSW 17 74,230,037 (GRCm39) critical splice donor site probably null
Z1177:Xdh UTSW 17 74,204,690 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGTCAACTGTAGTCAAATCTC -3'
(R):5'- TGTGAGAGGCTCATGGTCTC -3'

Sequencing Primer
(F):5'- ATCTCTATGTGCTACTCAAGTTGGAG -3'
(R):5'- GAGGCTCATGGTCTCAGTTAG -3'
Posted On 2021-11-19