Mutagenetix > Incidental Mutation

Incidental Mutation 'R0930:Xdh'

80838

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

Xox-1, XO, Xor, Xox1, xanthine oxidase

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R0930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74190890-74257191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74230077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 285 (W285G)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024866]

AlphaFold

Q00519

Predicted Effect

probably benign
Transcript: ENSMUST00000024866
AA Change: W285G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: W285G

Domain	Start	End	E-Value	Type
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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	T	17: 84,990,705 (GRCm39)	V16L	probably benign	Het
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Agpat4	A	T	17: 12,417,723 (GRCm39)	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ankrd2	T	A	19: 42,032,292 (GRCm39)		probably null	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,785,009 (GRCm39)		probably null	Het
Cars1	T	A	7: 143,124,307 (GRCm39)	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,751,618 (GRCm39)	G316V	probably damaging	Het
Cd244a	T	A	1: 171,404,801 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Dact1	A	G	12: 71,365,234 (GRCm39)	R672G	probably damaging	Het
Dapk1	T	C	13: 60,905,262 (GRCm39)	F991L	probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Exosc4	A	G	15: 76,211,734 (GRCm39)	I14M	probably benign	Het
Ezr	G	A	17: 7,021,398 (GRCm39)	R180*	probably null	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Fyb1	A	T	15: 6,668,309 (GRCm39)	I501F	probably damaging	Het
Hdac5	G	T	11: 102,095,472 (GRCm39)	P383Q	probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Krt36	A	G	11: 99,994,225 (GRCm39)	F284S	probably damaging	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lsamp	G	A	16: 41,709,327 (GRCm39)	G86S	probably benign	Het
Myh8	A	G	11: 67,196,824 (GRCm39)	E1819G	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nphp4	T	G	4: 152,622,512 (GRCm39)	L599R	probably benign	Het
Nrcam	A	G	12: 44,596,667 (GRCm39)	I301V	probably benign	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Os9	C	T	10: 126,932,924 (GRCm39)	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,464,105 (GRCm39)	D248G	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sdk2	A	G	11: 113,729,271 (GRCm39)	I1102T	probably benign	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Slc3a1	A	G	17: 85,367,171 (GRCm39)	T453A	probably benign	Het
Sod1	A	G	16: 90,022,071 (GRCm39)	D93G	probably benign	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,512,526 (GRCm39)	M1R	probably null	Het
Tbc1d7	A	T	13: 43,318,812 (GRCm39)	Y108*	probably null	Het
Ticam1	A	T	17: 56,577,226 (GRCm39)	V623D	unknown	Het
Ticam1	A	G	17: 56,578,687 (GRCm39)	L136P	probably damaging	Het
Tjap1	A	C	17: 46,569,455 (GRCm39)	W512G	possibly damaging	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,221,040 (GRCm39)	F213I	probably damaging	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het

Other mutations in Xdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9035:Xdh	UTSW	17	74,217,222 (GRCm39)	missense	probably benign
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'- AATGCTCGACATGAGCTGGGAC -3'
(R):5'- CGCCATACTCAGTGTGATGCTCAAC -3'

Sequencing Primer
(F):5'- GTGATTCAATGCGCCATCAG -3'
(R):5'- GTGTGATGCTCAACAAGCC -3'

Posted On

2013-11-07