Mutagenetix > Incidental Mutation

Incidental Mutation 'R4600:Xdh'

345581

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

R4600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73910200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 691 (T691N)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably benign
Transcript: ENSMUST00000024866
AA Change: T691N

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: T691N

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
2700049A03Rik	T	C	12: 71,148,263	F145L	possibly damaging	Het
Aars2	T	A	17: 45,516,921	D555E	probably damaging	Het
Ago1	C	A	4: 126,460,392	M208I	probably benign	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Amfr	A	G	8: 93,974,221	L537P	probably damaging	Het
Apob	A	G	12: 8,008,568	D2317G	probably damaging	Het
Asb6	T	A	2: 30,824,471	D209V	probably damaging	Het
AY358078	T	A	14: 51,826,075	C393S	possibly damaging	Het
Baz2a	T	A	10: 128,121,183	C932S	probably damaging	Het
BC067074	A	G	13: 113,319,249	R610G	possibly damaging	Het
Btnl10	A	G	11: 58,923,600	I369V	probably benign	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Clic4	A	T	4: 135,238,989		probably null	Het
Col6a3	A	G	1: 90,781,904	S1857P	unknown	Het
Cracr2a	A	C	6: 127,603,888	D9A	probably benign	Het
Dcst1	T	C	3: 89,356,336	E384G	probably benign	Het
Ddx4	T	C	13: 112,612,060	K435E	probably damaging	Het
Deaf1	T	A	7: 141,310,971	T433S	possibly damaging	Het
Dnah3	T	A	7: 120,089,946	M82L	probably benign	Het
Dnhd1	G	T	7: 105,703,644	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,946,925	G596D	probably benign	Het
Ercc3	G	A	18: 32,245,571	A202T	probably benign	Het
Fam181b	C	A	7: 93,080,784	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,723,500	D178E	probably benign	Het
Frem2	A	G	3: 53,547,807	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,016,797	K54*	probably null	Het
Golgb1	A	G	16: 36,918,625	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705	A1569T	probably damaging	Het
Grik5	C	G	7: 25,068,064	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,897,986	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,236,168	A160P	possibly damaging	Het
Hydin	A	T	8: 110,566,950	T3510S	probably benign	Het
Itgb2	A	G	10: 77,546,115	I84V	probably benign	Het
Itsn1	A	G	16: 91,899,587	Q26R	probably damaging	Het
Kat6a	A	G	8: 22,939,311	S1561G	probably benign	Het
Khnyn	G	A	14: 55,886,981	V231I	probably benign	Het
Kif21b	A	G	1: 136,147,864	D243G	probably benign	Het
Klk4	T	A	7: 43,885,338	N240K	probably damaging	Het
Knl1	T	C	2: 119,070,544	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,323,529	D1419A	probably benign	Het
Lin9	T	A	1: 180,681,194	V421D	probably damaging	Het
Lipt2	T	C	7: 100,160,312	L202P	probably benign	Het
Mbd5	T	G	2: 49,257,197	M473R	probably benign	Het
Mcc	A	T	18: 44,519,520	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,028,592	V60M	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mylk2	G	A	2: 152,917,556	V389M	probably damaging	Het
Ndufs7	T	A	10: 80,256,667	Y203*	probably null	Het
Nup160	T	A	2: 90,685,197		probably null	Het
Nup88	G	A	11: 70,969,696	R62*	probably null	Het
Olfr130	T	C	17: 38,067,962	S264P	probably damaging	Het
Olfr145	T	A	9: 37,898,326	S307R	probably benign	Het
Olfr609	T	A	7: 103,492,581	Q99L	probably damaging	Het
Olfr777	G	A	10: 129,268,405	A306V	probably benign	Het
Olfr952	A	G	9: 39,426,435	M212T	probably benign	Het
Os9	T	C	10: 127,098,354	N471S	probably benign	Het
Otof	C	T	5: 30,371,900	V1757M	probably damaging	Het
Pald1	T	C	10: 61,348,616	T241A	probably benign	Het
Palm2	A	T	4: 57,709,954	T300S	probably benign	Het
Pappa2	G	A	1: 158,814,445	S1347L	probably damaging	Het
Pccb	T	C	9: 101,034,779	T27A	probably benign	Het
Pde4dip	A	T	3: 97,695,944	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,438,201	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,228,327	P145L	possibly damaging	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Rnf133	T	C	6: 23,649,042	E296G	possibly damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Slc35e2	T	C	4: 155,617,649	F290S	probably benign	Het
Slc46a2	C	T	4: 59,911,886	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,342,059	L301P	probably damaging	Het
Spg21	A	G	9: 65,475,975	T148A	probably benign	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Sult1c1	C	A	17: 53,973,955	W40L	probably benign	Het
Sytl2	T	C	7: 90,375,769	S322P	probably benign	Het
Telo2	C	A	17: 25,105,148	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,224,590	V719A	probably damaging	Het
Tlr9	T	A	9: 106,224,533	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,113,248	N230D	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpo	C	T	12: 30,098,229	V558M	probably benign	Het
Trex1	T	G	9: 109,058,284	Q213P	possibly damaging	Het
Ttc30a1	T	C	2: 75,980,633	T369A	probably benign	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ugt1a6a	A	G	1: 88,138,864	K131E	probably benign	Het
Vipr1	T	A	9: 121,665,136		probably null	Het
Vmn1r22	T	C	6: 57,900,875	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,872,622	C17S	probably benign	Het
Vps41	T	C	13: 18,745,283	Y63H	probably damaging	Het
Zfp518b	T	C	5: 38,673,627	N345S	probably damaging	Het
Zfp536	T	A	7: 37,568,493	K499N	probably damaging	Het
Zfp963	A	T	8: 69,742,860		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
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'- AGGGAAGCTGCTGTCAACTG -3'
(R):5'- GCTAAGTTCTTGTGAGAGGCTC -3'

Sequencing Primer
(F):5'- AAGCTGCTGTCAACTGTAGTC -3'
(R):5'- CCTAAAATGTGCTTTGACCAAAGGG -3'

Posted On

2015-09-25