Mutagenetix > Incidental Mutations

Incidental Mutation 'R4897:Xdh'

375846

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

042501-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R4897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73900708 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 885 (V885L)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024866
AA Change: V885L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: V885L

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,376,297	M120I	probably damaging	Het
4933427D14Rik	A	T	11: 72,191,516	L328Q	probably damaging	Het
Adgrv1	A	C	13: 81,561,585		probably null	Het
Ankrd46	A	T	15: 36,484,133		probably benign	Het
Arhgef18	A	T	8: 3,444,979	M413L	probably benign	Het
Atp6v1e1	G	A	6: 120,804,083	T87M	probably null	Het
Bap1	T	C	14: 31,258,445		probably benign	Het
Brf1	A	G	12: 112,965,887	L385P	probably benign	Het
C1qtnf1	A	T	11: 118,448,112	N203Y	probably damaging	Het
Catsperb	A	T	12: 101,602,766	N899I	probably damaging	Het
Ccnjl	A	C	11: 43,579,891	D162A	probably damaging	Het
Cd248	A	C	19: 5,069,167	I348L	probably benign	Het
Cdc20	T	C	4: 118,435,832	T265A	probably benign	Het
Cdca5	T	A	19: 6,090,397	L196*	probably null	Het
Cdk4	T	A	10: 127,064,575		probably benign	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Clec4b2	G	T	6: 123,201,040	E105*	probably null	Het
Dapk1	T	A	13: 60,761,786	D1404E	probably benign	Het
Dnah1	T	C	14: 31,267,539	Y3308C	probably damaging	Het
Dnah17	A	C	11: 118,078,593	Y2260D	probably damaging	Het
Dock8	T	G	19: 25,181,637	S1720A	probably benign	Het
Erc1	A	G	6: 119,777,986		probably null	Het
Ergic1	A	G	17: 26,629,623	I66V	probably benign	Het
Fam186a	T	C	15: 99,945,277	T1029A	possibly damaging	Het
Fat4	A	T	3: 38,980,632	Y2811F	probably damaging	Het
Flt3	A	G	5: 147,369,300	M310T	probably damaging	Het
Ganab	T	A	19: 8,914,991	C844S	probably benign	Het
Gas2l2	C	A	11: 83,429,215	V72F	probably damaging	Het
Gm14401	T	A	2: 177,086,780	C220S	probably damaging	Het
Gm9745	T	G	13: 8,940,601		probably benign	Het
Hmmr	A	T	11: 40,728,434	V73E	probably benign	Het
Ifih1	G	T	2: 62,635,014		probably benign	Het
Jak3	A	G	8: 71,685,404	E833G	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Ldb1	G	A	19: 46,034,693	A217V	probably benign	Het
Lrrc8c	A	G	5: 105,608,089	T577A	probably benign	Het
Mfn1	T	A	3: 32,546,562		probably benign	Het
Mki67	G	A	7: 135,696,745	P2187S	probably damaging	Het
Mrc1	T	A	2: 14,319,141	D1096E	probably benign	Het
Msi1	A	G	5: 115,435,595		probably benign	Het
Msto1	T	A	3: 88,912,252	I152F	probably benign	Het
Myo9a	A	G	9: 59,896,517	R2060G	probably benign	Het
Nnt	A	T	13: 119,404,571	C44*	probably null	Het
Nup210l	A	G	3: 90,193,071	D1468G	probably damaging	Het
Olfr1176	C	A	2: 88,344,342	C129F	possibly damaging	Het
Olfr1257	A	G	2: 89,881,132	E102G	probably benign	Het
Olfr19	T	C	16: 16,673,618	D121G	probably damaging	Het
Olfr345	T	C	2: 36,640,894	L285P	probably damaging	Het
P2rx3	G	A	2: 85,024,926	T62I	probably damaging	Het
Pabpc4l	G	T	3: 46,447,143	T22K	probably damaging	Het
Pcdha7	A	G	18: 36,975,593	D557G	probably damaging	Het
Pcdhb20	A	G	18: 37,506,245	K608R	possibly damaging	Het
Pcnx	A	G	12: 81,918,165	S369G	probably damaging	Het
Plod1	T	C	4: 147,920,279	I455V	probably benign	Het
Prune2	A	T	19: 17,121,855	E1574D	probably benign	Het
Ptar1	T	A	19: 23,703,108	L96H	probably damaging	Het
Rabgap1	T	C	2: 37,560,571	S904P	probably benign	Het
Rps6ka4	C	T	19: 6,838,099	V176I	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Runx1t1	T	A	4: 13,771,459	M1K	probably null	Het
Serinc4	T	A	2: 121,452,424	Y419F	probably damaging	Het
Serpina12	A	T	12: 104,037,797	M192K	possibly damaging	Het
Spata21	T	A	4: 141,104,950	M474K	probably damaging	Het
Stpg1	T	C	4: 135,519,365	S135P	possibly damaging	Het
Tdrkh	A	G	3: 94,429,364	D481G	probably damaging	Het
Ube2e1	A	C	14: 18,285,268	S68R	probably damaging	Het
Vcpip1	A	C	1: 9,747,347	N270K	probably damaging	Het
Vmn2r79	T	C	7: 87,001,467	F154L	probably benign	Het
Vwa3b	A	G	1: 37,114,603		probably benign	Het
Zfp141	A	T	7: 42,476,205	V281D	probably benign	Het
Zfp317	T	A	9: 19,646,847	I119N	probably benign	Het
Zfp345	G	A	2: 150,472,688	R310C	probably benign	Het
Zfp760	G	A	17: 21,723,248	C468Y	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
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
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'- ATGTAAGGATCACTCTTCCCGC -3'
(R):5'- AAGCTGGGTTGGGGATCTAC -3'

Sequencing Primer
(F):5'- AAGCAGCTCACCTCCTCTG -3'
(R):5'- TTGGGGATCTACTTAGGAGAGTAAG -3'

Posted On

2016-03-17