Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Xdh'

31543

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

038595-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73898362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1036 (H1036L)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably damaging
Transcript: ENSMUST00000024866
AA Change: H1036L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: H1036L

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: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,671,404	E30K	unknown	Het
Abi3bp	A	T	16: 56,671,307	T1319S	possibly damaging	Het
Adam18	T	C	8: 24,629,637		probably null	Het
Adgre1	G	A	17: 57,406,839	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,303,788		probably null	Het
Ankhd1	A	G	18: 36,644,599	S1612G	possibly damaging	Het
Anks1	A	G	17: 27,995,952	R458G	possibly damaging	Het
C130026I21Rik	T	A	1: 85,270,052	N5Y	probably benign	Het
Cacna1g	C	T	11: 94,459,697	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,782	V1037E	possibly damaging	Het
Casz1	T	C	4: 148,948,911	V1380A	possibly damaging	Het
Cenpq	T	C	17: 40,933,194		probably benign	Het
Chrac1	T	C	15: 73,093,527	I93T	possibly damaging	Het
Cntnap2	T	A	6: 46,009,637	S359T	probably benign	Het
Col6a6	C	A	9: 105,784,204	M235I	probably benign	Het
Crat	T	C	2: 30,403,628		probably benign	Het
Cyp1a2	T	C	9: 57,682,025	N169D	probably benign	Het
Dennd1c	T	A	17: 57,067,649	T499S	probably benign	Het
Dst	A	G	1: 34,294,550		probably null	Het
Dync2h1	G	T	9: 7,167,244		probably null	Het
Eif3h	C	A	15: 51,799,264	V129F	probably damaging	Het
Eno2	A	G	6: 124,762,691	F380L	probably damaging	Het
Ergic2	T	A	6: 148,183,202	I34F	probably benign	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fam185a	C	T	5: 21,459,285	T339M	probably damaging	Het
Fam20b	A	T	1: 156,681,453	D396E	probably benign	Het
Fam71f2	T	A	6: 29,281,392	V43E	possibly damaging	Het
Fasn	G	T	11: 120,816,182	D881E	probably damaging	Het
Fat1	C	A	8: 44,950,348	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,432,482	C439S	probably benign	Het
Gba2	A	T	4: 43,570,832	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,457,918	I517V	probably benign	Het
Gng13	C	T	17: 25,718,722	Q8*	probably null	Het
Golga1	A	T	2: 39,018,441	S749T	probably damaging	Het
Gphn	A	T	12: 78,590,659	I381F	probably damaging	Het
Grm3	T	C	5: 9,504,794	N833D	probably damaging	Het
Gstt2	G	T	10: 75,832,432	T163K	probably damaging	Het
Gusb	A	T	5: 129,998,086	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hspg2	A	G	4: 137,515,423	T650A	possibly damaging	Het
Ints2	C	T	11: 86,248,851	V306I	probably damaging	Het
Itga1	T	A	13: 114,992,460	D554V	probably benign	Het
Itgam	C	T	7: 128,081,634	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,858,323	T161A	probably benign	Het
Klhl18	A	T	9: 110,428,681	C564S	probably benign	Het
Krt40	T	A	11: 99,541,714	R159*	probably null	Het
L3mbtl4	G	A	17: 68,455,780	V103M	probably damaging	Het
Lnx2	C	A	5: 147,019,040	V649L	possibly damaging	Het
Lpp	A	T	16: 24,608,241	Q39H	probably damaging	Het
Lrpprc	A	T	17: 84,753,112		probably null	Het
Map3k19	A	T	1: 127,822,415	N1066K	probably benign	Het
Mbtps2	G	T	X: 157,568,368	T134K	probably benign	Het
Mfng	C	T	15: 78,764,437	V147M	possibly damaging	Het
Mks1	T	C	11: 87,857,928	S273P	probably benign	Het
Myh2	T	C	11: 67,180,821	L488P	probably damaging	Het
Myo15	A	G	11: 60,478,538	N708S	probably benign	Het
Myo6	A	T	9: 80,292,466	N1019I	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Ncoa1	T	G	12: 4,295,976	N457T	probably benign	Het
Neb	T	C	2: 52,161,477		probably null	Het
Nlrp4e	C	A	7: 23,355,203	N927K	probably damaging	Het
Npffr2	T	C	5: 89,582,754	M181T	probably benign	Het
Nxf7	A	T	X: 135,584,383	C495S	possibly damaging	Het
Oas1g	T	C	5: 120,887,529	T12A	probably benign	Het
Olfr130	C	G	17: 38,067,671	R167G	possibly damaging	Het
Olfr23	T	A	11: 73,941,053	V269E	probably benign	Het
Olfr484	A	G	7: 108,124,816	V149A	probably benign	Het
Olfr591	A	T	7: 103,173,283	V118E	possibly damaging	Het
Olfr744	T	A	14: 50,618,579	L119Q	probably damaging	Het
Papln	C	T	12: 83,783,379	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,412,432	D187A	probably damaging	Het
Phf2	T	A	13: 48,804,489	E1016D	unknown	Het
Phf8	T	A	X: 151,552,622	D197E	probably benign	Het
Pikfyve	A	G	1: 65,196,706	H179R	probably damaging	Het
Prkcz	T	A	4: 155,269,140	D250V	probably damaging	Het
Prpf4	A	G	4: 62,422,605	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,934,614	Y23*	probably null	Het
Prr5	T	A	15: 84,702,951	S301T	probably benign	Het
Psg16	T	A	7: 17,095,163	I224N	probably benign	Het
Radil	A	G	5: 142,543,471	F186L	probably damaging	Het
Reg3g	A	T	6: 78,468,561	M1K	probably null	Het
Rps6ka3	A	G	X: 159,317,967	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,590,363	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,811,507	R614C	probably damaging	Het
Slc12a4	A	G	8: 105,951,967	S244P	probably benign	Het
Sptbn1	T	C	11: 30,139,250	T671A	possibly damaging	Het
Supt16	A	T	14: 52,174,113	N604K	probably damaging	Het
Synj2	G	A	17: 6,029,783	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,951,196	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,172,869	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987	D709G	probably benign	Het
Tfap2d	C	T	1: 19,104,367	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,629,702	T333N	probably benign	Het
Tnk1	T	C	11: 69,855,682	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,378,094	F144S	probably benign	Het
Twnk	G	T	19: 45,008,139	G337V	possibly damaging	Het
Unc13a	A	G	8: 71,658,032	F464L	probably benign	Het
Usp17le	C	A	7: 104,768,460	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,011,762	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,748,311	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,541,074	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,335,986	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,801,494	V196A	probably benign	Het
Zfp930	T	A	8: 69,228,296	Y214*	probably null	Het

Other mutations in Xdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Xdh	APN	17	73923106	missense	possibly damaging	0.58
IGL00556:Xdh	APN	17	73884435	makesense	probably null
IGL01524:Xdh	APN	17	73923137	critical splice acceptor site	probably null
IGL01604:Xdh	APN	17	73909337	missense	probably benign	0.02
IGL01625:Xdh	APN	17	73916786	critical splice donor site	probably null
IGL01778:Xdh	APN	17	73900280	missense	probably benign	0.00
IGL01804:Xdh	APN	17	73892759	missense	probably damaging	1.00
IGL01825:Xdh	APN	17	73891245	missense	probably damaging	1.00
IGL01929:Xdh	APN	17	73934855	missense	probably damaging	1.00
IGL02068:Xdh	APN	17	73913950	missense	probably damaging	1.00
IGL02079:Xdh	APN	17	73891277	missense	probably damaging	1.00
IGL02210:Xdh	APN	17	73943895	missense	probably benign	0.00
IGL02261:Xdh	APN	17	73913965	missense	possibly damaging	0.81
IGL02365:Xdh	APN	17	73943890	missense	probably benign	0.14
IGL02424:Xdh	APN	17	73926570	missense	probably benign	0.00
IGL02491:Xdh	APN	17	73886464	missense	probably damaging	0.99
IGL02525:Xdh	APN	17	73924995	missense	possibly damaging	0.91
IGL02578:Xdh	APN	17	73906246	missense	probably damaging	1.00
IGL02793:Xdh	APN	17	73900581	missense	probably damaging	1.00
IGL02939:Xdh	APN	17	73943845	critical splice donor site	probably null
IGL03327:Xdh	APN	17	73916792	missense	probably benign
IGL03345:Xdh	APN	17	73906032	missense	probably damaging	0.98
IGL03353:Xdh	APN	17	73895786	missense	possibly damaging	0.65
inky	UTSW	17	73921351	missense	probably damaging	1.00
nucleus	UTSW	17	73899012	nonsense	probably null
squidgame	UTSW	17	73939836	missense	probably benign
R0018:Xdh	UTSW	17	73925025	missense	probably benign	0.00
R0018:Xdh	UTSW	17	73925025	missense	probably benign	0.00
R0033:Xdh	UTSW	17	73907632	missense	probably benign	0.06
R0079:Xdh	UTSW	17	73891218	missense	probably damaging	1.00
R0086:Xdh	UTSW	17	73884438	missense	probably benign
R0319:Xdh	UTSW	17	73906101	splice site	probably benign
R0336:Xdh	UTSW	17	73922463	missense	possibly damaging	0.91
R0684:Xdh	UTSW	17	73943891	missense	probably damaging	0.97
R0930:Xdh	UTSW	17	73923082	missense	probably benign	0.00
R1073:Xdh	UTSW	17	73939836	missense	probably benign
R1114:Xdh	UTSW	17	73941149	splice site	probably benign
R1201:Xdh	UTSW	17	73918418	missense	probably benign	0.05
R1230:Xdh	UTSW	17	73891256	missense	probably damaging	1.00
R1351:Xdh	UTSW	17	73923078	missense	probably benign	0.02
R1470:Xdh	UTSW	17	73891112	missense	probably damaging	1.00
R1470:Xdh	UTSW	17	73891112	missense	probably damaging	1.00
R1485:Xdh	UTSW	17	73914019	nonsense	probably null
R1548:Xdh	UTSW	17	73913901	missense	probably damaging	0.98
R1637:Xdh	UTSW	17	73900578	missense	probably benign
R1641:Xdh	UTSW	17	73926552	missense	probably benign
R1758:Xdh	UTSW	17	73910209	missense	probably damaging	1.00
R1951:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R1969:Xdh	UTSW	17	73892751	missense	possibly damaging	0.55
R2024:Xdh	UTSW	17	73921305	missense	possibly damaging	0.92
R2080:Xdh	UTSW	17	73909325	missense	probably damaging	1.00
R2157:Xdh	UTSW	17	73922537	missense	probably damaging	1.00
R2300:Xdh	UTSW	17	73891265	missense	probably damaging	1.00
R3783:Xdh	UTSW	17	73893595	splice site	probably benign
R3796:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3797:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3798:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3799:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3819:Xdh	UTSW	17	73906725	missense	probably benign	0.35
R4085:Xdh	UTSW	17	73916879	missense	probably benign	0.35
R4240:Xdh	UTSW	17	73895795	missense	possibly damaging	0.72
R4356:Xdh	UTSW	17	73915690	missense	probably benign	0.01
R4522:Xdh	UTSW	17	73898344	missense	probably damaging	1.00
R4523:Xdh	UTSW	17	73898344	missense	probably damaging	1.00
R4524:Xdh	UTSW	17	73898344	missense	probably damaging	1.00
R4600:Xdh	UTSW	17	73910200	missense	probably benign	0.19
R4617:Xdh	UTSW	17	73918394	missense	probably damaging	0.99
R4756:Xdh	UTSW	17	73886386	missense	probably benign	0.24
R4761:Xdh	UTSW	17	73910267	missense	possibly damaging	0.91
R4815:Xdh	UTSW	17	73906215	missense	probably damaging	1.00
R4850:Xdh	UTSW	17	73898335	missense	probably damaging	1.00
R4896:Xdh	UTSW	17	73910243	missense	probably damaging	0.96
R4897:Xdh	UTSW	17	73900708	missense	probably benign
R4923:Xdh	UTSW	17	73924936	missense	possibly damaging	0.72
R4977:Xdh	UTSW	17	73898970	missense	probably benign	0.05
R5030:Xdh	UTSW	17	73891293	missense	probably damaging	1.00
R5185:Xdh	UTSW	17	73925011	missense	probably damaging	1.00
R5347:Xdh	UTSW	17	73925032	missense	probably benign
R5556:Xdh	UTSW	17	73897764	missense	probably benign	0.21
R5566:Xdh	UTSW	17	73893622	missense	probably damaging	1.00
R5568:Xdh	UTSW	17	73943885	missense	possibly damaging	0.90
R5635:Xdh	UTSW	17	73913875	missense	possibly damaging	0.92
R5662:Xdh	UTSW	17	73941115	missense	probably damaging	0.99
R5955:Xdh	UTSW	17	73898320	missense	probably damaging	1.00
R6058:Xdh	UTSW	17	73906269	missense	probably damaging	1.00
R6061:Xdh	UTSW	17	73921347	missense	probably damaging	1.00
R6412:Xdh	UTSW	17	73935907	missense	probably benign	0.09
R6526:Xdh	UTSW	17	73900551	missense	probably damaging	0.97
R6558:Xdh	UTSW	17	73893713	missense	possibly damaging	0.95
R6843:Xdh	UTSW	17	73923130	missense	probably damaging	1.00
R6932:Xdh	UTSW	17	73922562	missense	probably damaging	0.99
R7028:Xdh	UTSW	17	73943873	missense	probably damaging	0.99
R7418:Xdh	UTSW	17	73913965	missense	possibly damaging	0.81
R7503:Xdh	UTSW	17	73926210	missense	probably damaging	1.00
R7653:Xdh	UTSW	17	73897045	missense	probably benign	0.10
R7763:Xdh	UTSW	17	73934834	missense	possibly damaging	0.69
R7768:Xdh	UTSW	17	73939836	missense	probably benign
R7904:Xdh	UTSW	17	73922472	missense	probably benign	0.09
R8010:Xdh	UTSW	17	73909317	nonsense	probably null
R8067:Xdh	UTSW	17	73900657	missense	probably benign	0.01
R8238:Xdh	UTSW	17	73886417	missense	probably benign
R8253:Xdh	UTSW	17	73918382	missense	possibly damaging	0.94
R8346:Xdh	UTSW	17	73913943	missense	probably damaging	1.00
R8350:Xdh	UTSW	17	73934842	missense	probably damaging	1.00
R8381:Xdh	UTSW	17	73912461	missense	probably benign
R8427:Xdh	UTSW	17	73935931	missense	probably damaging	1.00
R8465:Xdh	UTSW	17	73899012	nonsense	probably null
R8478:Xdh	UTSW	17	73906058	missense	probably benign	0.00
R8680:Xdh	UTSW	17	73922505	missense	probably benign
R8802:Xdh	UTSW	17	73918410	missense	probably benign	0.00
R8984:Xdh	UTSW	17	73921351	missense	probably damaging	1.00
R8985:Xdh	UTSW	17	73921351	missense	probably damaging	1.00
R8995:Xdh	UTSW	17	73898374	missense	probably damaging	1.00
R9035:Xdh	UTSW	17	73910227	missense	probably benign
R9149:Xdh	UTSW	17	73915693	missense	probably benign
R9181:Xdh	UTSW	17	73925011	missense	probably damaging	1.00
R9357:Xdh	UTSW	17	73907716	missense	probably damaging	0.97
R9357:Xdh	UTSW	17	73926546	critical splice donor site	probably null
R9609:Xdh	UTSW	17	73924995	missense	possibly damaging	0.91
R9803:Xdh	UTSW	17	73922460	missense	probably benign
X0019:Xdh	UTSW	17	73918454	missense	probably damaging	1.00
Z1088:Xdh	UTSW	17	73886428	missense	probably benign
Z1176:Xdh	UTSW	17	73923042	critical splice donor site	probably null
Z1177:Xdh	UTSW	17	73897695	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGCCATGTGTGATGTTTTCTCAG -3'
(R):5'- GCTACAAGACAGTCACTCGGCTTC -3'

Sequencing Primer
(F):5'- GGCCTGATGCTTCTCCTGG -3'
(R):5'- CCAAATGTTGTGGTTGGCCTT -3'

Posted On

2013-04-24