Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Xdh'

297050

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73924995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 240 (Q240L)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024866
AA Change: Q240L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: Q240L

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

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 24,611,044	V701I	probably benign	Het
Adam18	A	G	8: 24,641,767		probably benign	Het
Adamts20	G	T	15: 94,283,078		probably null	Het
Adgrf5	G	T	17: 43,449,963	V850F	probably damaging	Het
Agap2	T	A	10: 127,083,201		probably null	Het
Ap4b1	G	A	3: 103,812,848	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Ccdc12	T	A	9: 110,711,101	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,595,010	S529P	probably damaging	Het
Col1a2	A	G	6: 4,531,355		probably benign	Het
Ddx59	A	T	1: 136,417,005	Q138L	probably benign	Het
Dlc1	A	T	8: 36,579,646	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,305,833	V682M	probably benign	Het
Dock9	C	T	14: 121,640,126	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,189,618	V402A	probably damaging	Het
Erlin1	T	C	19: 44,039,195	H268R	probably benign	Het
Ermard	T	C	17: 15,059,339		probably benign	Het
Fam43a	A	G	16: 30,600,778	K60R	probably benign	Het
Frmd4b	T	A	6: 97,412,533	D78V	probably damaging	Het
Gabrq	A	G	X: 72,836,824	T308A	possibly damaging	Het
Gipr	A	G	7: 19,159,765	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,611,223	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,689,907		probably benign	Het
Gm21759	T	C	5: 8,179,967		probably benign	Het
Gm7964	A	G	7: 83,756,042		noncoding transcript	Het
Gspt1	A	G	16: 11,230,990	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,477	S526G	probably benign	Het
Hey2	A	G	10: 30,842,647	M1T	probably null	Het
Hipk3	T	C	2: 104,471,412	D145G	probably damaging	Het
Ick	A	G	9: 78,160,393	K390E	probably benign	Het
Itgae	A	G	11: 73,130,951	D886G	probably damaging	Het
Ktn1	T	A	14: 47,724,743		probably null	Het
Med12l	A	G	3: 59,068,368	K239R	probably benign	Het
Milr1	A	T	11: 106,765,275	M124L	probably benign	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,891,583	S95F	probably benign	Het
Myef2	C	A	2: 125,114,058		probably benign	Het
Nfrkb	T	A	9: 31,414,516	I1085N	possibly damaging	Het
Olfr275	A	T	4: 52,825,616	Y73F	probably damaging	Het
Olfr924	T	A	9: 38,848,240	M42K	possibly damaging	Het
Prodh	G	A	16: 18,072,468	Q430*	probably null	Het
Pstk	G	T	7: 131,371,193	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067	E108D	probably benign	Het
Ptpn9	T	A	9: 57,036,725	Y294*	probably null	Het
Rnls	C	T	19: 33,138,214	V153M	possibly damaging	Het
Ros1	T	C	10: 52,116,042	T1362A	possibly damaging	Het
Samt3	G	A	X: 86,046,921	A140T	possibly damaging	Het
Sbpl	T	A	17: 23,954,863	M16L	unknown	Het
Sephs1	G	A	2: 4,906,596	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,136	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,403,238		probably benign	Het
Slc7a9	T	C	7: 35,453,435	S93P	probably damaging	Het
Slx4	A	G	16: 3,980,597	S1444P	probably damaging	Het
Stk32b	C	T	5: 37,531,633	V116M	probably damaging	Het
Supt5	A	G	7: 28,318,947		probably benign	Het
Syne2	T	A	12: 76,101,003	S6439T	probably damaging	Het
Taar7d	A	G	10: 24,028,096	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971	I51F	probably damaging	Het
Thegl	T	A	5: 77,016,553	D134E	probably benign	Het
Tk2	A	T	8: 104,243,400	N77K	probably benign	Het
Tmprss3	T	A	17: 31,194,891		probably benign	Het
Tnfrsf10b	T	C	14: 69,782,376	M319T	probably damaging	Het
Trim24	A	G	6: 37,945,718	R417G	probably damaging	Het
Ttn	C	A	2: 76,764,314	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,681,185	T525A	probably benign	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wnt3	C	T	11: 103,812,470	R260W	probably damaging	Het
Zbtb5	T	C	4: 44,994,731	T218A	probably benign	Het
Znfx1	C	T	2: 167,037,537	E776K	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
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
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

Posted On

2015-04-16