Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Xdh'

378829

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R4923 (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 73924936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 260 (V260L)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024866
AA Change: V260L

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: V260L

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

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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
5330417C22Rik	C	T	3: 108,471,968		probably null	Het
5830473C10Rik	A	G	5: 90,561,299	T23A	probably benign	Het
Aim2	A	G	1: 173,459,806	D124G	probably benign	Het
Akr1c6	T	C	13: 4,454,495	M293T	probably damaging	Het
Ankhd1	A	G	18: 36,589,452	T343A	probably damaging	Het
Ano2	T	C	6: 125,903,055		probably benign	Het
Arfgap2	G	A	2: 91,273,659	G353R	probably damaging	Het
Armc3	A	G	2: 19,292,980		probably null	Het
Armc4	C	G	18: 7,181,787	D846H	probably damaging	Het
Atp11b	T	C	3: 35,835,379		probably null	Het
BC037034	A	T	5: 138,262,379		probably benign	Het
Brd4	A	G	17: 32,199,240	M13T	probably benign	Het
Btd	T	A	14: 31,662,087	M10K	possibly damaging	Het
C1s2	T	C	6: 124,625,690	K515E	probably benign	Het
Cars	A	T	7: 143,569,850	Y455N	probably damaging	Het
Ccdc110	A	G	8: 45,943,423	S784G	probably benign	Het
Chic2	A	G	5: 75,011,211		probably benign	Het
Chka	A	T	19: 3,892,105		probably null	Het
Chrne	A	G	11: 70,615,275	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,645,029	V747A	probably benign	Het
Cobll1	A	G	2: 65,099,258	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,788,948	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,848,745		probably benign	Het
Cpsf2	T	C	12: 101,981,984	V13A	probably benign	Het
Creb3l4	T	A	3: 90,242,214	I115L	probably benign	Het
Cyp2j12	C	T	4: 96,102,109	A407T	possibly damaging	Het
D11Wsu47e	C	A	11: 113,688,979	T400K	probably benign	Het
Ddr2	A	G	1: 169,997,929		probably null	Het
Dennd4c	T	C	4: 86,807,538	L743P	probably damaging	Het
Egfl8	T	C	17: 34,614,197	T192A	probably benign	Het
Elf3	A	G	1: 135,256,735		probably benign	Het
Etv3	T	G	3: 87,535,916	L269R	possibly damaging	Het
Fah	C	A	7: 84,602,052		probably benign	Het
Fam189a1	A	G	7: 64,767,691	S322P	probably benign	Het
Fbll1	C	A	11: 35,797,580	L285F	probably benign	Het
Fcrla	A	T	1: 170,921,113	F154I	probably damaging	Het
Fnip2	T	A	3: 79,489,394		probably null	Het
Focad	T	C	4: 88,196,846		probably benign	Het
Gabrr1	T	A	4: 33,162,820	I462N	possibly damaging	Het
Gnptab	A	G	10: 88,429,623	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,331,452		probably benign	Het
Il17ra	T	A	6: 120,477,445	V299E	possibly damaging	Het
Impg1	G	A	9: 80,345,078	Q607*	probably null	Het
Impg1	T	A	9: 80,345,545	E374V	probably damaging	Het
Itgax	C	T	7: 128,148,528	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,339,936	V65D	probably damaging	Het
Kif20b	A	C	19: 34,941,211		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lama5	T	G	2: 180,184,149	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,492,043	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,778,223	H330N	probably benign	Het
Mars	C	A	10: 127,296,680		probably benign	Het
Mdga1	C	A	17: 29,838,078	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,147,965	E178G	probably benign	Het
Myg1	A	G	15: 102,331,853	N38S	probably benign	Het
Ncam1	A	T	9: 49,505,479	D837E	probably benign	Het
Ncam2	C	T	16: 81,589,791	P686L	possibly damaging	Het
Nck2	T	C	1: 43,461,071		probably benign	Het
Nfya	T	C	17: 48,400,535		probably benign	Het
Npat	A	G	9: 53,571,030	K1346R	probably damaging	Het
Olfr1245	T	C	2: 89,575,679	T16A	probably damaging	Het
Olfr530	G	T	7: 140,373,007	T201K	probably benign	Het
Olfr805	A	G	10: 129,722,812	V244A	probably benign	Het
Pde7b	G	T	10: 20,413,127	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,422,712	M1345K	probably benign	Het
Prkcz	T	C	4: 155,357,489	D62G	probably damaging	Het
Pros1	T	A	16: 62,903,572	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,078,498	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,389,173	D225G	probably benign	Het
Recql4	G	A	15: 76,710,181	R46C	probably damaging	Het
Rnf220	C	T	4: 117,489,600	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,662,747	D11G	probably benign	Het
Scp2d1	T	A	2: 144,824,110	I123K	probably benign	Het
Skap1	A	T	11: 96,754,044	Y311F	probably damaging	Het
Slc17a2	G	A	13: 23,819,095	V243M	probably benign	Het
Slc2a10	T	C	2: 165,514,756	I112T	possibly damaging	Het
Slc39a2	G	A	14: 51,895,254	G218D	probably damaging	Het
Sos1	T	C	17: 80,434,952	N382S	probably benign	Het
Spam1	C	T	6: 24,796,656	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,612,886	Q142L	possibly damaging	Het
Tec	T	A	5: 72,782,022	R217*	probably null	Het
Tmeff2	T	A	1: 50,930,645	V90D	probably benign	Het
Tmem119	T	C	5: 113,795,344	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,312,836	I204V	probably benign	Het
Ttn	A	T	2: 76,770,888	I17001N	probably damaging	Het
Vit	T	A	17: 78,586,841	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,929,066	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,361,816	N305D	probably benign	Het
Vmn2r61	A	G	7: 42,267,096	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,478,566	Y384H	probably damaging	Het
Wiz	C	T	17: 32,361,596	A294T	probably benign	Het
Xirp2	A	G	2: 67,512,893	K1826R	probably benign	Het
Zfp445	A	C	9: 122,852,293	I861R	probably benign	Het
Zfp691	T	C	4: 119,170,802	T78A	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
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
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'- ACTCCAAAGCCGATGTCTC -3'
(R):5'- TCAGTAAACAGGTTGACCCC -3'

Sequencing Primer
(F):5'- CGATGTCTCGGGAGTCCATG -3'
(R):5'- GTAAACAGGTTGACCCCCTTGC -3'

Posted On

2016-04-15