Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Xdh'

382807

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

042572-MU

Accession Numbers

Essential gene?

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

Stock #

R4977 (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 73898970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1016 (F1016L)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably benign
Transcript: ENSMUST00000024866
AA Change: F1016L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: F1016L

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: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,136,073	D910G	probably benign	Het
Amy1	C	T	3: 113,569,377		probably null	Het
C1s2	A	G	6: 124,635,639	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,479	I276T	probably damaging	Het
Cdyl2	A	G	8: 116,575,269	C458R	probably damaging	Het
Cep112	T	C	11: 108,434,236	S35P	probably damaging	Het
Chd9	T	C	8: 91,033,708	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,291,437	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,349,426		probably null	Het
Dis3l	A	C	9: 64,307,201	S919A	probably benign	Het
Dnah8	A	G	17: 30,663,301	T616A	probably benign	Het
Emx2	A	G	19: 59,459,246	T11A	probably damaging	Het
Fam160a2	A	T	7: 105,389,335	D232E	probably damaging	Het
Fbxl18	A	G	5: 142,886,085	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,772,119	T311I	probably damaging	Het
Fstl5	C	T	3: 76,410,494	Q156*	probably null	Het
Ggn	G	T	7: 29,172,196	G334C	probably damaging	Het
Grik2	T	C	10: 49,132,745	N749D	probably damaging	Het
Helb	A	G	10: 120,110,881	S176P	probably benign	Het
Hyal1	A	G	9: 107,578,954	D73G	probably benign	Het
Ifi205	C	A	1: 174,015,008	R374I	probably benign	Het
Ift172	A	T	5: 31,272,116	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,946,225	S26T	possibly damaging	Het
Il21	C	A	3: 37,232,504	S21I	probably damaging	Het
Jam3	A	G	9: 27,098,373	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,746,833	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,440,687	V250A	probably benign	Het
Lama1	A	G	17: 67,737,682	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,487,647	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,914,383	R204S	probably benign	Het
Lrrn1	A	G	6: 107,568,707	I489V	probably benign	Het
Mdh2	T	A	5: 135,783,409	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,950,509	S282P	probably benign	Het
Midn	T	A	10: 80,150,184	I36N	probably damaging	Het
Mpped1	A	T	15: 83,796,706		probably benign	Het
Myh10	A	G	11: 68,798,371	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,829,025	S155P	possibly damaging	Het
Olfr130	A	T	17: 38,067,747	H192L	possibly damaging	Het
Olfr325	A	G	11: 58,581,629	T262A	possibly damaging	Het
Olfr598	A	T	7: 103,328,833	M116L	probably benign	Het
Pex7	T	C	10: 19,869,332	T258A	probably benign	Het
Plg	A	G	17: 12,403,089	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,994,376	S144T	probably damaging	Het
Prkch	T	C	12: 73,702,893	F420S	possibly damaging	Het
Psg26	A	G	7: 18,475,310	V391A	probably benign	Het
Psg29	G	A	7: 17,208,631	G186R	probably damaging	Het
Rev3l	T	A	10: 39,823,578	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,916		probably benign	Het
Runx1	T	A	16: 92,644,347		probably null	Het
Sapcd1	A	T	17: 35,026,451	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,186	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,217,055	E59K	probably benign	Het
Slc8b1	A	G	5: 120,524,287	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,657,557	M221I	probably benign	Het
Smg5	C	T	3: 88,355,725	Q812*	probably null	Het
Smr3a	T	G	5: 88,008,103		probably null	Het
Syt9	G	A	7: 107,504,272	D426N	probably damaging	Het
Tcf25	T	C	8: 123,388,635	Y204H	probably benign	Het
Tmeff2	T	A	1: 50,979,556	C232*	probably null	Het
Tmem184a	C	A	5: 139,808,002	G219V	probably null	Het
Tnc	G	T	4: 64,006,248	T1071K	possibly damaging	Het
Tnn	C	A	1: 160,120,618	G842W	probably damaging	Het
Tshz3	T	A	7: 36,771,190	I868N	probably benign	Het
Ulbp1	C	T	10: 7,447,391	R238H	probably benign	Het
Ushbp1	C	T	8: 71,395,049		probably null	Het
Usp34	G	C	11: 23,488,982	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,910,791	E10G	probably damaging	Het
Zfp235	T	G	7: 24,142,184	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,537,387	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,353,811	S163P	probably damaging	Het
Zfp93	A	G	7: 24,275,411	I274V	probably benign	Het
Zswim4	C	T	8: 84,226,667		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
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
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
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'- ACACTACACTAGCAGCAATATGC -3'
(R):5'- CTTTCAAGGATCTGTTCTGACTTAAT -3'

Sequencing Primer
(F):5'- GCAAATTTTATTTCAGAAGCAGAGAG -3'
(R):5'- GAGTGAGGCCTTGAATGT -3'

Posted On

2016-04-27