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

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

74190890-74257191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74231990 bp (GRCm39)

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: 25,101,060 (GRCm39)	V701I	probably benign	Het
Adam18	A	G	8: 25,131,783 (GRCm39)		probably benign	Het
Adamts20	G	T	15: 94,180,959 (GRCm39)		probably null	Het
Adgrf5	G	T	17: 43,760,854 (GRCm39)	V850F	probably damaging	Het
Agap2	T	A	10: 126,919,070 (GRCm39)		probably null	Het
Ap4b1	G	A	3: 103,720,164 (GRCm39)	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Ccdc12	T	A	9: 110,540,169 (GRCm39)	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,461,249 (GRCm39)	S529P	probably damaging	Het
Cilk1	A	G	9: 78,067,675 (GRCm39)	K390E	probably benign	Het
Col1a2	A	G	6: 4,531,355 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,344,743 (GRCm39)	Q138L	probably benign	Het
Dlc1	A	T	8: 37,046,800 (GRCm39)	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,027,790 (GRCm39)	V682M	probably benign	Het
Dock9	C	T	14: 121,877,538 (GRCm39)	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,346,962 (GRCm39)	V402A	probably damaging	Het
Erlin1	T	C	19: 44,027,634 (GRCm39)	H268R	probably benign	Het
Ermard	T	C	17: 15,279,601 (GRCm39)		probably benign	Het
Fam43a	A	G	16: 30,419,596 (GRCm39)	K60R	probably benign	Het
Frmd4b	T	A	6: 97,389,494 (GRCm39)	D78V	probably damaging	Het
Gabrq	A	G	X: 71,880,430 (GRCm39)	T308A	possibly damaging	Het
Gipr	A	G	7: 18,893,690 (GRCm39)	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,848,680 (GRCm39)	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,739,907 (GRCm39)		probably benign	Het
Gm21759	T	C	5: 8,229,967 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,250 (GRCm39)		noncoding transcript	Het
Gspt1	A	G	16: 11,048,854 (GRCm39)	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,319 (GRCm39)	S526G	probably benign	Het
Hey2	A	G	10: 30,718,643 (GRCm39)	M1T	probably null	Het
Hipk3	T	C	2: 104,301,757 (GRCm39)	D145G	probably damaging	Het
Itgae	A	G	11: 73,021,777 (GRCm39)	D886G	probably damaging	Het
Ktn1	T	A	14: 47,962,200 (GRCm39)		probably null	Het
Med12l	A	G	3: 58,975,789 (GRCm39)	K239R	probably benign	Het
Milr1	A	T	11: 106,656,101 (GRCm39)	M124L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,941,583 (GRCm39)	S95F	probably benign	Het
Myef2	C	A	2: 124,955,978 (GRCm39)		probably benign	Het
Nfrkb	T	A	9: 31,325,812 (GRCm39)	I1085N	possibly damaging	Het
Or13f5	A	T	4: 52,825,616 (GRCm39)	Y73F	probably damaging	Het
Or8d2	T	A	9: 38,759,536 (GRCm39)	M42K	possibly damaging	Het
Prodh	G	A	16: 17,890,332 (GRCm39)	Q430*	probably null	Het
Pstk	G	T	7: 130,972,922 (GRCm39)	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067 (GRCm39)	E108D	probably benign	Het
Ptpn9	T	A	9: 56,944,009 (GRCm39)	Y294*	probably null	Het
Rnls	C	T	19: 33,115,614 (GRCm39)	V153M	possibly damaging	Het
Ros1	T	C	10: 51,992,138 (GRCm39)	T1362A	possibly damaging	Het
Samt3	G	A	X: 85,090,527 (GRCm39)	A140T	possibly damaging	Het
Sbpl	T	A	17: 24,173,837 (GRCm39)	M16L	unknown	Het
Sephs1	G	A	2: 4,911,407 (GRCm39)	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,135 (GRCm39)	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,551,051 (GRCm39)		probably benign	Het
Slc7a9	T	C	7: 35,152,860 (GRCm39)	S93P	probably damaging	Het
Slx4	A	G	16: 3,798,461 (GRCm39)	S1444P	probably damaging	Het
Spmap2l	T	A	5: 77,164,400 (GRCm39)	D134E	probably benign	Het
Stk32b	C	T	5: 37,688,977 (GRCm39)	V116M	probably damaging	Het
Supt5	A	G	7: 28,018,372 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,147,777 (GRCm39)	S6439T	probably damaging	Het
Taar7d	A	G	10: 23,903,994 (GRCm39)	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971 (GRCm39)	I51F	probably damaging	Het
Tk2	A	T	8: 104,970,032 (GRCm39)	N77K	probably benign	Het
Tmprss3	T	A	17: 31,413,865 (GRCm39)		probably benign	Het
Tnfrsf10b	T	C	14: 70,019,825 (GRCm39)	M319T	probably damaging	Het
Trim24	A	G	6: 37,922,653 (GRCm39)	R417G	probably damaging	Het
Ttn	C	A	2: 76,594,658 (GRCm39)	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,901,447 (GRCm39)	T525A	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnt3	C	T	11: 103,703,296 (GRCm39)	R260W	probably damaging	Het
Zbtb5	T	C	4: 44,994,731 (GRCm39)	T218A	probably benign	Het
Znfx1	C	T	2: 166,879,457 (GRCm39)	E776K	probably benign	Het

Other mutations in Xdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Xdh	APN	17	74,230,101 (GRCm39)	missense	possibly damaging	0.58
IGL00556:Xdh	APN	17	74,191,430 (GRCm39)	makesense	probably null
IGL01524:Xdh	APN	17	74,230,132 (GRCm39)	critical splice acceptor site	probably null
IGL01604:Xdh	APN	17	74,216,332 (GRCm39)	missense	probably benign	0.02
IGL01625:Xdh	APN	17	74,223,781 (GRCm39)	critical splice donor site	probably null
IGL01778:Xdh	APN	17	74,207,275 (GRCm39)	missense	probably benign	0.00
IGL01804:Xdh	APN	17	74,199,754 (GRCm39)	missense	probably damaging	1.00
IGL01825:Xdh	APN	17	74,198,240 (GRCm39)	missense	probably damaging	1.00
IGL01929:Xdh	APN	17	74,241,850 (GRCm39)	missense	probably damaging	1.00
IGL02068:Xdh	APN	17	74,220,945 (GRCm39)	missense	probably damaging	1.00
IGL02079:Xdh	APN	17	74,198,272 (GRCm39)	missense	probably damaging	1.00
IGL02210:Xdh	APN	17	74,250,890 (GRCm39)	missense	probably benign	0.00
IGL02261:Xdh	APN	17	74,220,960 (GRCm39)	missense	possibly damaging	0.81
IGL02365:Xdh	APN	17	74,250,885 (GRCm39)	missense	probably benign	0.14
IGL02424:Xdh	APN	17	74,233,565 (GRCm39)	missense	probably benign	0.00
IGL02491:Xdh	APN	17	74,193,459 (GRCm39)	missense	probably damaging	0.99
IGL02578:Xdh	APN	17	74,213,241 (GRCm39)	missense	probably damaging	1.00
IGL02793:Xdh	APN	17	74,207,576 (GRCm39)	missense	probably damaging	1.00
IGL02939:Xdh	APN	17	74,250,840 (GRCm39)	critical splice donor site	probably null
IGL03327:Xdh	APN	17	74,223,787 (GRCm39)	missense	probably benign
IGL03345:Xdh	APN	17	74,213,027 (GRCm39)	missense	probably damaging	0.98
IGL03353:Xdh	APN	17	74,202,781 (GRCm39)	missense	possibly damaging	0.65
inky	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
nucleus	UTSW	17	74,206,007 (GRCm39)	nonsense	probably null
squidgame	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R0018:Xdh	UTSW	17	74,232,020 (GRCm39)	missense	probably benign	0.00
R0018:Xdh	UTSW	17	74,232,020 (GRCm39)	missense	probably benign	0.00
R0033:Xdh	UTSW	17	74,214,627 (GRCm39)	missense	probably benign	0.06
R0079:Xdh	UTSW	17	74,198,213 (GRCm39)	missense	probably damaging	1.00
R0086:Xdh	UTSW	17	74,191,433 (GRCm39)	missense	probably benign
R0319:Xdh	UTSW	17	74,213,096 (GRCm39)	splice site	probably benign
R0336:Xdh	UTSW	17	74,229,458 (GRCm39)	missense	possibly damaging	0.91
R0389:Xdh	UTSW	17	74,205,357 (GRCm39)	missense	probably damaging	1.00
R0684:Xdh	UTSW	17	74,250,886 (GRCm39)	missense	probably damaging	0.97
R0930:Xdh	UTSW	17	74,230,077 (GRCm39)	missense	probably benign	0.00
R1073:Xdh	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R1114:Xdh	UTSW	17	74,248,144 (GRCm39)	splice site	probably benign
R1201:Xdh	UTSW	17	74,225,413 (GRCm39)	missense	probably benign	0.05
R1230:Xdh	UTSW	17	74,198,251 (GRCm39)	missense	probably damaging	1.00
R1351:Xdh	UTSW	17	74,230,073 (GRCm39)	missense	probably benign	0.02
R1470:Xdh	UTSW	17	74,198,107 (GRCm39)	missense	probably damaging	1.00
R1470:Xdh	UTSW	17	74,198,107 (GRCm39)	missense	probably damaging	1.00
R1485:Xdh	UTSW	17	74,221,014 (GRCm39)	nonsense	probably null
R1548:Xdh	UTSW	17	74,220,896 (GRCm39)	missense	probably damaging	0.98
R1637:Xdh	UTSW	17	74,207,573 (GRCm39)	missense	probably benign
R1641:Xdh	UTSW	17	74,233,547 (GRCm39)	missense	probably benign
R1758:Xdh	UTSW	17	74,217,204 (GRCm39)	missense	probably damaging	1.00
R1951:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R1969:Xdh	UTSW	17	74,199,746 (GRCm39)	missense	possibly damaging	0.55
R2024:Xdh	UTSW	17	74,228,300 (GRCm39)	missense	possibly damaging	0.92
R2080:Xdh	UTSW	17	74,216,320 (GRCm39)	missense	probably damaging	1.00
R2157:Xdh	UTSW	17	74,229,532 (GRCm39)	missense	probably damaging	1.00
R2300:Xdh	UTSW	17	74,198,260 (GRCm39)	missense	probably damaging	1.00
R3783:Xdh	UTSW	17	74,200,590 (GRCm39)	splice site	probably benign
R3796:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3797:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3798:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3799:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3819:Xdh	UTSW	17	74,213,720 (GRCm39)	missense	probably benign	0.35
R4085:Xdh	UTSW	17	74,223,874 (GRCm39)	missense	probably benign	0.35
R4240:Xdh	UTSW	17	74,202,790 (GRCm39)	missense	possibly damaging	0.72
R4356:Xdh	UTSW	17	74,222,685 (GRCm39)	missense	probably benign	0.01
R4522:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4523:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4524:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4600:Xdh	UTSW	17	74,217,195 (GRCm39)	missense	probably benign	0.19
R4617:Xdh	UTSW	17	74,225,389 (GRCm39)	missense	probably damaging	0.99
R4756:Xdh	UTSW	17	74,193,381 (GRCm39)	missense	probably benign	0.24
R4761:Xdh	UTSW	17	74,217,262 (GRCm39)	missense	possibly damaging	0.91
R4815:Xdh	UTSW	17	74,213,210 (GRCm39)	missense	probably damaging	1.00
R4850:Xdh	UTSW	17	74,205,330 (GRCm39)	missense	probably damaging	1.00
R4896:Xdh	UTSW	17	74,217,238 (GRCm39)	missense	probably damaging	0.96
R4897:Xdh	UTSW	17	74,207,703 (GRCm39)	missense	probably benign
R4923:Xdh	UTSW	17	74,231,931 (GRCm39)	missense	possibly damaging	0.72
R4977:Xdh	UTSW	17	74,205,965 (GRCm39)	missense	probably benign	0.05
R5030:Xdh	UTSW	17	74,198,288 (GRCm39)	missense	probably damaging	1.00
R5185:Xdh	UTSW	17	74,232,006 (GRCm39)	missense	probably damaging	1.00
R5347:Xdh	UTSW	17	74,232,027 (GRCm39)	missense	probably benign
R5556:Xdh	UTSW	17	74,204,759 (GRCm39)	missense	probably benign	0.21
R5566:Xdh	UTSW	17	74,200,617 (GRCm39)	missense	probably damaging	1.00
R5568:Xdh	UTSW	17	74,250,880 (GRCm39)	missense	possibly damaging	0.90
R5635:Xdh	UTSW	17	74,220,870 (GRCm39)	missense	possibly damaging	0.92
R5662:Xdh	UTSW	17	74,248,110 (GRCm39)	missense	probably damaging	0.99
R5955:Xdh	UTSW	17	74,205,315 (GRCm39)	missense	probably damaging	1.00
R6058:Xdh	UTSW	17	74,213,264 (GRCm39)	missense	probably damaging	1.00
R6061:Xdh	UTSW	17	74,228,342 (GRCm39)	missense	probably damaging	1.00
R6412:Xdh	UTSW	17	74,242,902 (GRCm39)	missense	probably benign	0.09
R6526:Xdh	UTSW	17	74,207,546 (GRCm39)	missense	probably damaging	0.97
R6558:Xdh	UTSW	17	74,200,708 (GRCm39)	missense	possibly damaging	0.95
R6843:Xdh	UTSW	17	74,230,125 (GRCm39)	missense	probably damaging	1.00
R6932:Xdh	UTSW	17	74,229,557 (GRCm39)	missense	probably damaging	0.99
R7028:Xdh	UTSW	17	74,250,868 (GRCm39)	missense	probably damaging	0.99
R7418:Xdh	UTSW	17	74,220,960 (GRCm39)	missense	possibly damaging	0.81
R7503:Xdh	UTSW	17	74,233,205 (GRCm39)	missense	probably damaging	1.00
R7653:Xdh	UTSW	17	74,204,040 (GRCm39)	missense	probably benign	0.10
R7763:Xdh	UTSW	17	74,241,829 (GRCm39)	missense	possibly damaging	0.69
R7768:Xdh	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R7904:Xdh	UTSW	17	74,229,467 (GRCm39)	missense	probably benign	0.09
R8010:Xdh	UTSW	17	74,216,312 (GRCm39)	nonsense	probably null
R8067:Xdh	UTSW	17	74,207,652 (GRCm39)	missense	probably benign	0.01
R8238:Xdh	UTSW	17	74,193,412 (GRCm39)	missense	probably benign
R8253:Xdh	UTSW	17	74,225,377 (GRCm39)	missense	possibly damaging	0.94
R8346:Xdh	UTSW	17	74,220,938 (GRCm39)	missense	probably damaging	1.00
R8350:Xdh	UTSW	17	74,241,837 (GRCm39)	missense	probably damaging	1.00
R8381:Xdh	UTSW	17	74,219,456 (GRCm39)	missense	probably benign
R8427:Xdh	UTSW	17	74,242,926 (GRCm39)	missense	probably damaging	1.00
R8465:Xdh	UTSW	17	74,206,007 (GRCm39)	nonsense	probably null
R8478:Xdh	UTSW	17	74,213,053 (GRCm39)	missense	probably benign	0.00
R8680:Xdh	UTSW	17	74,229,500 (GRCm39)	missense	probably benign
R8802:Xdh	UTSW	17	74,225,405 (GRCm39)	missense	probably benign	0.00
R8984:Xdh	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
R8985:Xdh	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
R8995:Xdh	UTSW	17	74,205,369 (GRCm39)	missense	probably damaging	1.00
R9035:Xdh	UTSW	17	74,217,222 (GRCm39)	missense	probably benign
R9149:Xdh	UTSW	17	74,222,688 (GRCm39)	missense	probably benign
R9181:Xdh	UTSW	17	74,232,006 (GRCm39)	missense	probably damaging	1.00
R9357:Xdh	UTSW	17	74,233,541 (GRCm39)	critical splice donor site	probably null
R9357:Xdh	UTSW	17	74,214,711 (GRCm39)	missense	probably damaging	0.97
R9609:Xdh	UTSW	17	74,231,990 (GRCm39)	missense	possibly damaging	0.91
R9803:Xdh	UTSW	17	74,229,455 (GRCm39)	missense	probably benign
X0019:Xdh	UTSW	17	74,225,449 (GRCm39)	missense	probably damaging	1.00
Z1088:Xdh	UTSW	17	74,193,423 (GRCm39)	missense	probably benign
Z1176:Xdh	UTSW	17	74,230,037 (GRCm39)	critical splice donor site	probably null
Z1177:Xdh	UTSW	17	74,204,690 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16