Mutagenetix > Incidental Mutation

Incidental Mutation 'R1758:Xdh'

195134

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

039790-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R1758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73910209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 688 (V688E)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably damaging
Transcript: ENSMUST00000024866
AA Change: V688E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: V688E

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,562,237	R38G	possibly damaging	Het
4930590J08Rik	T	C	6: 91,915,222	V155A	possibly damaging	Het
Adgb	A	G	10: 10,426,605	S406P	probably damaging	Het
Adgrb2	C	A	4: 130,011,875	T893N	probably damaging	Het
Adgrf5	T	C	17: 43,424,593		probably null	Het
Alms1	T	A	6: 85,628,505	I2379N	probably damaging	Het
Arap3	C	T	18: 37,989,912	V512I	probably benign	Het
Atf4	C	T	15: 80,257,213	T268I	probably benign	Het
BC067074	A	G	13: 113,368,732	T2132A	possibly damaging	Het
Ccdc154	T	C	17: 25,163,182	L25P	probably damaging	Het
Ccdc9	G	A	7: 16,276,236	S381F	probably damaging	Het
Cdk17	C	T	10: 93,208,250	T17M	probably damaging	Het
Cep128	T	C	12: 91,347,578	N142S	probably benign	Het
Cep78	A	G	19: 15,959,536	I602T	probably damaging	Het
Clasp1	C	T	1: 118,548,025	T935I	probably damaging	Het
Cnr1	T	C	4: 33,945,000	S463P	probably damaging	Het
Cntnap1	T	A	11: 101,184,623	W876R	probably damaging	Het
Cntnap5c	A	G	17: 58,042,550	D286G	probably damaging	Het
Copa	C	T	1: 172,104,144	R321C	probably damaging	Het
Ctla2a	T	G	13: 60,935,442	E98A	probably damaging	Het
Cux1	A	T	5: 136,392,322	D183E	probably damaging	Het
Cxcl15	A	C	5: 90,801,464	T163P	unknown	Het
Ddias	T	C	7: 92,859,363	N448S	probably benign	Het
Dhx8	T	C	11: 101,766,738	F1152S	probably damaging	Het
Dnah12	C	A	14: 26,766,114	Q992K	probably benign	Het
Eno3	G	T	11: 70,661,425	W301L	possibly damaging	Het
Faap100	A	T	11: 120,377,233	V238E	probably damaging	Het
Fgf4	A	G	7: 144,862,312	S137G	probably benign	Het
Fhod3	A	C	18: 25,120,310	D1439A	possibly damaging	Het
Frem2	A	G	3: 53,653,357	L1243P	probably damaging	Het
Gif	G	A	19: 11,757,815	M266I	probably damaging	Het
Gkn3	T	G	6: 87,388,835	M1L	probably benign	Het
Gm10250	T	C	15: 5,121,027		probably benign	Het
Gm12185	T	C	11: 48,908,032	T545A	possibly damaging	Het
Gm14226	T	A	2: 155,025,458	L445H	probably damaging	Het
Gm3404	A	T	5: 146,526,226	M73L	probably benign	Het
Gm4907	A	G	X: 23,906,751	I164V	probably benign	Het
Gm973	G	T	1: 59,634,010	R976S	unknown	Het
Gpr146	A	T	5: 139,393,382	H313L	probably benign	Het
Gys2	T	A	6: 142,472,706	E32D	probably damaging	Het
Igsf10	G	A	3: 59,329,196	T1188I	probably benign	Het
Igsf9b	A	T	9: 27,334,252	T1172S	possibly damaging	Het
Itga8	T	A	2: 12,265,333	N114I	possibly damaging	Het
Itsn2	T	A	12: 4,658,160	V795E	possibly damaging	Het
Kdm1b	T	A	13: 47,060,768	S197T	probably benign	Het
Kif5c	G	A	2: 49,723,133	R161Q	probably benign	Het
Krt33b	T	C	11: 100,025,535	Y232C	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrp1	A	T	10: 127,588,584	N744K	possibly damaging	Het
Mcm10	C	A	2: 5,004,050	L369F	probably damaging	Het
Muc5ac	T	A	7: 141,801,531	I1018N	possibly damaging	Het
Myom2	T	C	8: 15,065,795	L70P	probably benign	Het
Myt1l	T	A	12: 29,827,242	N297K	unknown	Het
Ncr1	C	T	7: 4,340,808	T98I	probably benign	Het
Nek3	T	C	8: 22,160,262	E78G	probably damaging	Het
Nfatc3	T	A	8: 106,099,136	N606K	probably damaging	Het
Nup107	T	G	10: 117,761,343	D669A	probably damaging	Het
Olfr1113	A	T	2: 87,213,414	Q174L	probably benign	Het
Olfr1264	T	C	2: 90,021,329	T246A	probably benign	Het
Olfr922	A	T	9: 38,815,575	H24L	probably benign	Het
Olfr95	A	T	17: 37,211,313	I180N	possibly damaging	Het
Pcnx	T	C	12: 81,983,484	V1711A	probably benign	Het
Pik3c3	A	G	18: 30,277,010	D99G	probably damaging	Het
Pinx1	C	A	14: 63,919,575	T317K	probably benign	Het
Ppargc1b	G	T	18: 61,298,786		probably null	Het
Pradc1	T	A	6: 85,447,221	I119F	possibly damaging	Het
Psat1	G	T	19: 15,914,879	T242K	probably damaging	Het
Psma6	G	A	12: 55,407,532	C28Y	probably damaging	Het
Pyurf	A	T	6: 57,691,832	C58*	probably null	Het
Rab3gap2	C	A	1: 185,283,884	A1331E	probably benign	Het
Rnase4	T	C	14: 51,105,265	*149Q	probably null	Het
Ruvbl2	T	C	7: 45,425,162	K184R	probably benign	Het
Scn7a	T	G	2: 66,680,183	M1292L	probably benign	Het
Scn7a	A	T	2: 66,700,887	Y549N	probably damaging	Het
Selp	A	G	1: 164,132,285	D370G	possibly damaging	Het
Slc22a15	G	A	3: 101,860,453	Q386*	probably null	Het
Slc22a29	A	G	19: 8,217,762		probably null	Het
Slc26a7	A	C	4: 14,548,491	I266S	possibly damaging	Het
Smpd4	T	C	16: 17,626,008	S112P	probably damaging	Het
Smpd4	T	A	16: 17,640,880	L165Q	probably damaging	Het
Snx33	A	G	9: 56,926,698	I29T	probably benign	Het
Spen	G	A	4: 141,476,375	P1647L	unknown	Het
Strip2	T	C	6: 29,941,941		probably null	Het
Swsap1	C	T	9: 21,955,984	R75*	probably null	Het
Tmem210	C	T	2: 25,288,423	T32I	probably damaging	Het
Tnn	C	T	1: 160,147,584	R91H	possibly damaging	Het
Tnni1	G	A	1: 135,808,682	R94H	probably damaging	Het
Tnrc6c	T	A	11: 117,760,730	V1693D	probably benign	Het
Trip4	G	A	9: 65,874,977	Q158*	probably null	Het
Ttc39b	T	C	4: 83,237,349	E474G	probably damaging	Het
Usp50	C	A	2: 126,775,862	C221F	probably damaging	Het
Vmn1r171	T	C	7: 23,632,356	I2T	probably benign	Het
Wdr62	T	A	7: 30,267,903	I309F	probably damaging	Het
Zfyve26	A	G	12: 79,238,944	L2353P	probably damaging	Het
Zgpat	C	A	2: 181,378,840	R269S	probably damaging	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
R0389:Xdh	UTSW	17	73898362	missense	probably damaging	1.00
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
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'- GGTGAAAGGTAAGACTTCCTGGAGC -3'
(R):5'- AGGCCAGAGAACATTCCTAAAATGTGC -3'

Sequencing Primer
(F):5'- acaaactcagaaaacctatattagcc -3'
(R):5'- CTAAAATGTGCTTTGACCAAAGGG -3'

Posted On

2014-05-23