Mutagenetix > Incidental Mutations

Incidental Mutation 'R5635:Xdh'

448690

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

043286-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R5635 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 73913875 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 620 (I620L)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024866
AA Change: I620L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: I620L

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

Meta Mutation Damage Score

0.3967

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (90/91)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,218,277	M53K	possibly damaging	Het
Aldh3b3	C	T	19: 3,968,512	T409I	probably benign	Het
Ankrd13a	C	A	5: 114,801,717	H468Q	possibly damaging	Het
Ap2a1	A	C	7: 44,923,901		probably benign	Het
Arfgef1	A	T	1: 10,188,860	S671T	possibly damaging	Het
C1ra	G	A	6: 124,516,724	C145Y	probably damaging	Het
Catsperd	G	A	17: 56,632,335	V55M	possibly damaging	Het
Ccdc30	T	C	4: 119,359,674	N123D	possibly damaging	Het
Cdc20	A	T	4: 118,436,027	V232E	possibly damaging	Het
Cfap58	T	A	19: 47,983,542	V637E	possibly damaging	Het
Coq4	T	A	2: 29,788,355	V24E	possibly damaging	Het
Crim1	T	A	17: 78,315,641	F423I	probably damaging	Het
Crls1	T	C	2: 132,864,142	V262A	possibly damaging	Het
Crybb1	T	C	5: 112,257,559		probably null	Het
Cutc	T	A	19: 43,755,630	N23K	probably benign	Het
Cxcl10	T	A	5: 92,347,839	I82F	probably damaging	Het
Cyp3a44	A	T	5: 145,801,314	F60L	possibly damaging	Het
Dhx9	A	G	1: 153,483,747	M35T	probably benign	Het
Dnah8	A	G	17: 30,706,386	E1265G	probably benign	Het
Dzank1	C	G	2: 144,483,407	D548H	probably damaging	Het
Eef2kmt	A	G	16: 5,249,029	V120A	probably damaging	Het
Elp4	A	G	2: 105,814,264		probably null	Het
Etl4	A	T	2: 20,807,035	I1310F	probably damaging	Het
Exoc6b	A	T	6: 84,851,927	F492I	probably damaging	Het
F2rl2	A	T	13: 95,700,782	I112F	possibly damaging	Het
Farp1	T	A	14: 121,276,304	I837N	possibly damaging	Het
Fars2	A	G	13: 36,410,146	E378G	probably damaging	Het
Fgg	A	G	3: 83,011,423	T248A	probably benign	Het
Flrt3	T	A	2: 140,660,500	T403S	probably damaging	Het
Fndc3b	C	T	3: 27,541,931	E170K	probably damaging	Het
Gm17728	A	G	17: 9,422,370	H104R	probably benign	Het
Hist2h2ab	C	A	3: 96,220,277	T121K	possibly damaging	Het
Hivep1	A	G	13: 42,160,127	T1948A	probably benign	Het
Hspa4l	T	A	3: 40,745,745	I23N	probably damaging	Het
Ighv1-75	A	G	12: 115,834,209	V31A	probably benign	Het
Kalrn	T	A	16: 34,014,084	N627I	probably damaging	Het
Lrp1b	T	G	2: 42,652,822		probably benign	Het
Lrrc36	G	A	8: 105,457,573	V480M	probably damaging	Het
Map4k3	A	T	17: 80,613,495	N534K	possibly damaging	Het
Mybpc3	C	T	2: 91,134,829	T1081I	probably benign	Het
Nfrkb	T	C	9: 31,399,298	S351P	probably damaging	Het
Nme4	A	T	17: 26,094,231	V43E	probably damaging	Het
Notch1	C	T	2: 26,476,161	E794K	probably damaging	Het
Nufip1	A	T	14: 76,126,146	K270M	probably damaging	Het
Olfr1093	A	G	2: 86,785,726		probably null	Het
Olfr1330	G	T	4: 118,893,635	G184V	probably benign	Het
Olfr390	G	T	11: 73,787,634	R232L	probably benign	Het
Olfr65	G	A	7: 103,906,638	M66I	probably benign	Het
Olfr919	A	G	9: 38,698,159	I73T	possibly damaging	Het
Pcdhb15	T	A	18: 37,473,770	Y18*	probably null	Het
Pcdhb21	A	T	18: 37,513,917	Y33F	probably benign	Het
Pds5b	T	A	5: 150,778,221	H772Q	possibly damaging	Het
Pik3r4	C	A	9: 105,667,825	H168N	probably benign	Het
Pitpnm3	A	G	11: 72,067,160	S386P	possibly damaging	Het
Plg	A	G	17: 12,395,754	H307R	probably damaging	Het
Prdm9	A	C	17: 15,562,440	D96E	probably damaging	Het
Prmt8	A	G	6: 127,768,729	S7P	probably damaging	Het
Prune2	T	C	19: 17,118,209	V359A	probably benign	Het
Pxn	A	T	5: 115,551,492	Q279L	probably benign	Het
Rarb	A	T	14: 16,443,788	C167S	probably damaging	Het
Rps6kb2	T	A	19: 4,161,134	I131F	probably damaging	Het
Sec14l3	T	A	11: 4,071,484	V219E	probably damaging	Het
Simc1	A	G	13: 54,525,404	T522A	probably benign	Het
Slc1a6	T	C	10: 78,789,091	V110A	possibly damaging	Het
Slc38a11	T	G	2: 65,361,403		probably null	Het
Snx13	T	A	12: 35,140,171	D840E	probably benign	Het
Sp100	C	A	1: 85,682,264		probably benign	Het
Spc24	G	T	9: 21,757,390	L104I	probably damaging	Het
Surf4	T	C	2: 26,933,313	N4D	probably benign	Het
Tas2r131	A	T	6: 132,957,608	D79E	probably benign	Het
Tbc1d20	T	C	2: 152,311,461	S304P	probably benign	Het
Tbrg1	T	C	9: 37,654,991		probably benign	Het
Tmem214	A	G	5: 30,871,517	N150S	probably damaging	Het
Trappc13	A	T	13: 104,150,098	I217K	probably benign	Het
Ttc41	T	A	10: 86,736,977	C738S	probably benign	Het
Ttn	T	C	2: 76,709,724	Q25979R	probably benign	Het
Tubb2b	A	T	13: 34,128,197	N204K	probably damaging	Het
Ube3a	T	A	7: 59,288,488	M713K	probably damaging	Het
Usp37	T	C	1: 74,495,811		probably benign	Het
Vegfb	T	A	19: 6,982,846	*189C	probably null	Het
Vmn2r82	A	G	10: 79,378,818	N212D	probably benign	Het
Vta1	A	T	10: 14,668,122		probably null	Het
Wdr66	A	T	5: 123,322,572	Q225L	probably benign	Het
Xpnpep3	A	G	15: 81,436,769	Y283C	probably benign	Het
Zscan18	A	G	7: 12,770,864	S609P	probably benign	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
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
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
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
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'- AAAGAACCTCAGGTACCGTG -3'
(R):5'- GGCCTATAGAGAAACCGTGTC -3'

Sequencing Primer
(F):5'- AGGTACCGTGCCTGAACTC -3'
(R):5'- GCCAGACTGGTACCCATATTG -3'

Posted On

2016-12-15